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Cases for Paces Flashcards

1
Q

What are the peripheral signs of chronic liver disease?

A

General: Cachexia, icterus (also in acute), excoriation and bruising

Hands: leuconychia, clubbing, Dupuytren’s contractures and palmar erythema

Face: xanthelasma, parotid swelling and fetor hepaticus

Chest and abdomen: spider naevi and caput medusa, reduced body hair, gynaecomastia and testicular atrophy (in males)

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2
Q

What are the causes of hepatomegaly?

A

The big three:
-Cirrhosis (alcoholic)
-Carcinoma (secondaries)
-CCF

Plus:
-Infectious (HBV and HCV)
-Immune (PBC, PSC and AIH)
-Infiltrative (amyloid and myeloproliferative disorders)

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3
Q

What investigations do you perform in chronic liver disease?

A

Bloods: FBC, clotting, U+Es, LFT and glucose
Abdominal USS
Ascitic tap (if present)

If cirrhotic
-Liver screen bloods: autoantibodies and immunoglobulins (PBC, PSC and AIH), Hepatitis B and C serology, Ferritin (haemochromatosis), Caeruloplasmin (Wilson’s disease), A-1 antitrypsin), AFP
-Hepatic synthetic function: INR (acute) and albumin (chronic)
-Liver biopsy (diagnosis and staging)
-ERCP (diagnosis/exclude PSC)

If malignancy
-Imaging: CXR and CT abdomen/chest
-Colonoscopy/ gastroscopy
-Biopsy

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4
Q

What are the complications of cirrhosis?

A

Variceal haemorrhage due to portal hypertension

Hepatic encephalopathy

SBP

HCC

Hepatorenal syndrome

Hepatopulmonary syndrome

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5
Q

What is the Child-Pugh classification of cirrhosis and what do the scores correspond to?

A

Prognostic score based on bilirubin/ albumin/ INR/ ascites/ encephalopathy

A: score 5-6 = 100% 1 year survival

B: 7-9 = 81% 1 year survival

C: 10-15 = 45% 1 year survival

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6
Q

What are the causes of ascites?

A

Cirrhosis (80%)
Carcinomatosis
CCF

Other:
-Nephrotic, kwoshiokor
-Meig’s
-Pancreatitis
-Hypothyroid

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7
Q

What is the treatment of ascites in cirrhotics

A

Abstinence from alcohol
Salt restriction
Fluid restriction
Diuretics (aim 1kg wt loss/ day)
Ascitic drain (when discomfort, cardiac, or resp compromise)
TIPPS
Liver transplantation

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8
Q

What are the causes of palmar erythema?

A

Cirrhosis
Hyperthyroidism
Rheumatoid arthritis
Pregnancy
Polycytheamia

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9
Q

What are the risk factors for CAD?

A

smoking
diabetes
Family history
cholesterol
Hypertension
Age
Ethnic origin (south east asian)

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10
Q

What are the driving restrictions post MI

A

1 week if successful angioplasty
4 weeks if unsuccessful angioplasty
4 weeks if no angioplasty

Bus, coach and lorry licence- cant drive for 6 weeks after any event

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11
Q

What factors are included in TIMI score

A

Age >65
>3 CAD risk factors
Known CAD
Taking aspirin on admission
Severe angina (refractory to medication)
Troponin elevation
ST depression >1mm

> 3 points = high mortality risk

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12
Q

What are the risk factors for common headaches to rule out?

A

Meningitis: immunosuppressed, close meningitis contact and foreign travel

SAH: hypertension

Migraine: stress, tiredness, chocolate, red wine

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13
Q

What are the features of migraine?

A

POUNDing

Pulsating
duration of 4-72 hOurs
Unilateral
Nausea
Disabling

May have aura or focal neurological deficits in 30%

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14
Q

What are the precipitating factors for DKA?

A

4 Is
Insulin forgotten
Infection
Infarction
Injury

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15
Q

Station 5 examination: Chest pain

A

Risk factors: Tar staining, pulse rate and rhythm, anaemia

Cause: MSK pain on chest wall, Heart sounds, lung bases

Swollen ankles

BP

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16
Q

Station 5 exam headache ?CNS infection

A

Look for meningism: neck stiffness, fundoscopy (photophobia), Kernig’s sign, fever

Look for rash (non blanching)

Complications:
-Cerebral abscess: pronator drift, tone power, lower limb extensor plantar, cranial nerve palsy
-Cerebral oedema: pupils and fundoscopy

Heamodynamic stability
-Pulse and BP

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17
Q

Station 5 exam DVT

A

Confirm: Calf swelling 10cm below tibial tuberosity (>3cm difference)
Superficial venous engorgement and pitting oedema

Ellicit a cause: examine abdomen and pelvis (exclude mass compression)

Complications: thrombophlebitis - local tenderness and erythema
PE: pleural rub and right heart failure (JVP, Heave)

Treatment considerations: peripheral pulses for compression stockings

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18
Q

Station 5 exam Diabetes

A

BP and pulse

eyes and fundoscopy

cardiovascular exam

Dip urine etc

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19
Q

Station 5 anaemia exam

A

Nails (koilonychia (iron deficiency))
Eyes (general pallor and pale conjunctivae)
Mouth (glossitis (iron) and angular stomatitis (vit B deficiency))
Lymph nodes
Heart sounds
Abdominal mass and hepatomegaly/ splenomegaly
Rectal and vaginal exam

Haemodynamics (pulse and BP)

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20
Q

Station 5 exam lung cancer exam

A

Cachexia
Nail clubbing and tar staining
Tattoos from previous radiotherapy

Cervical lymphadenopathy
Tracheal deviation: lobar collapse
Dull percussion: consolidation and effusion
Reduced air entry/ bronchial breathing

METS
Hepatomegaly
Spinal tenderness on percussion with heel of hand
Focal neurology

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21
Q

Station 5 exam: persistant fever

A

DDx to cover: infection (endocarditis), drug induced, malignancy, inflammatory disease

Splinter haemorrhages, osler nodes
Track marks
Joints and skin ?inflammatory
Fundoscopy (roth spots)
Lymphadenopathy
Heart sounds (murmur)
Chest ?TB
Liver, spleen
Dip urine

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22
Q

What are the DVLA rules for syncope?

A

Check the 3 Ps: Provocation/ Prodrome/ Postural - if all present then likely benign and can continue driving

Solitary with no clear cause - 6 month ban
Clear cause that has been treated - 4 week ban

Recurrent syncope due to seizures - must be seizure free for 1 year

Group 2 license in general must not drive and consult DVLA
Seizure free for 5 years if 1 seizure or 10 years if epilepsy

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23
Q

Station 5 exam AF

A

Pulse and BP
Tremor
Thyroid eye disease
Goitre

Cardio exam
Check for overload

Neurological exam
Visual fields

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24
Q

What are the contents of the CHADSVASC score?

A

Congestive cardiac failure = 1
Hypertension = 1
Age >/= 2
Diabetes = 1
Stroke/TIA/embolus = 2
Vascular disease = 1
Age 65-74 = 1
Sex category (female) = 1

0= no anticoagulation
1 = medium risk (1.3% per year) = patient preference
2 = high risk (>2.2% per annum) = oral anticoagulation recommended

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25
Q

What are the contents of the ORBIT bleeding score for AF?

A

Sex
Age >74
Bleeding history
egfr <60
Treatment with antiplatelets

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26
Q

What are the contents of the HASBLED score?

A

Hypertension = 1
Abnormal kidney or liver function = 1 for each
Stroke =1
Bleeding =1
Labile INR = 1
Elderly = 1
Drugs (NSAIDs) and alcohol = 1 for each

> /= 3 = high risk (avoid anticoagulation

Patients high risk for both embolic and bleeding complications should be considered for left atrial appendage occlusion to isolate the commonest source of thrombus in AF

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27
Q

What is the differential diagnosis in Crohn’s disease?

A

Yersinia
TB
Lymphoma
UC

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28
Q

What is the differential diagnosis in UC?

A

Infection (e.g. campylobacter), ischaemia, drugs and radiation (and crohn’s)

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29
Q

What is the medical management of Crohn’s disease

A

Mild/ moderate:
-Oral steroid (5ASA)
-Ileoceacal treated with budeonide

Severe: IV steroid, IV infliximab

Maintanence:
-Azathioprine/ mercaptopurine (first line) Methotrexate, steroid
-TNFa inhibitors: infliximab, adalimumab; ustekinumab, vedolizumab

Antibiotics: metronidazole - in Crohn’s with perianal infection, fistulae or small bowel bacterial overgrowth

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30
Q

What is the medical management of UC?

A

Mild/ moderate:
-5ASA (e.g. mesalazine) oral and enema (preferred)
-Oral or topical (rectal) steroid (second line) - budesonide/ beclometasone

Severe disease
-IV steroid
-IV ciclosporin

Maintenance therapy
-5ASA (first line)
-Oral steroid
-Azathioprine, TNFa or tofacitinib

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31
Q

What are the non medical management options in IBD?

A

Nutritional support: high fibre, elemental and low residue diets
Psychological support

Surgery:
-Crohn’s: obstruction from strictures, complications from fistulae and perianal disease and failure to respond to medical therapy
-UC: chronic symptomatic relief, emergency surgery for severe refractory colitis and colonic dysplasia or carcinoma

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32
Q

What are the complications in Crohn’s disease?

A

Malabsorption
Anaemia
Abscess
Fistula
Intestinal obstruction

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33
Q

What are the complications in ulcerative colitis?

A

Anaemia
Toxic dilatation
Perforation
Colonic carcinoma

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34
Q

What is the colonic carcinoma risk in UC and surveillance programme?

A

Higher risk in patients with pancolitis (5-10% at 15-20 years), and in those with PSC

Surveillance: 3 yearly colonoscopy for patients with pancolitis >10 years, increasing in frequency with every decade from diagnosis (2-yearly 20-30 years, annually >30 years)

Colectomy if dysplasia detected

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35
Q

What are the extra-intestinal manifestations of IBD?

A

Mouth - apthous ulcers *

Skin:
-Erythema nodosum *
-Pyoderma gangrenosum *
-Finger clubbing *

Joint:
-Large joint arthritis *
-Seronegative arthritides

Eye:
-Uveitis *, Episcleritis * and iritis *

Liver: Primary sclerosing cholangitis (UC)

Systemic amyloidosis

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36
Q

What are the causes of erythema nodosum?

A

Infection:
-Strep,
-TB,
-Yersinia,
-Clamydia,
-Fungal (histoplasmosis, coccidioidomycosis)
-Parasitic infection: amoebiasis, giardiasis

Drugs:
-Sulfonamide, Amoxicillin, Oral contraceptive, NSAIDs, Bromide, Salicylate, Iodide, Gold salt

Inflammatory
-bowel disease (ulcerative colitis or Crohn disease)
-Sarcoidosis (11–-25%); X-ray shows bilateral hilar adenopathy in Löfgren syndrome
-Malignancy
-Lymphoma
-Leukaemia
-Behçet disease

Pregnancy

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37
Q

What are the findings of hypertensive retinopathy?

A

Grade 1: silver wiring (increased reflectance from thickened arterioles)

Grade 2: plus AV nipping

Grade 3: plus cotton wool spots and flame haemorrhages

Grade 4: plus papilledema

may also be hard exudates

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38
Q

What are the causes of hypertension?

A

Essential (94%: associated with age, obesity, salt, alcohol)

Renal (4%: underlying CKD 2nd glomerulonephritis, ADPKD, renovascular disease)

Endocrine (1%: Conn’s, cushing’s, acromegaly or phaeochromocytoma)

Aortic coarctation

Pre-eclampsia: PREGNANCY

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39
Q

What are the investigations for hypertension?

A

Confirm: BP

End organ damage: fundoscopy, LVH on ECG, renal impairment, CCF on CXR, urine dip, ECHO, CT (bleed or stroke)

Underlying cause: pregnancy testing, urinalysis and ACR, renin/aldosterone levels (Conn’s), plasma and/or urinary metanephrines, iGF1, random glucose, TFTs, low dose dex testing

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40
Q

What are the definitions for hypertension?

A

Please see NICE sheet

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41
Q

What are some history factors to consider in rashes?

A

Psychosocial impact: relationships, confidence, work

Exacerbating factors: Stress, alcohol, cigarettes, drugs, trauma, allergies or atopy

Melanoma risk: sunbeds, family history, fair skin etc
Immunosuppression/ infections
Pregnancy (some treatments teratogenic)

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42
Q

What are the 5 forms of psoriatic arthritis?
10% of psoriasis patients

A

DIPJ involvement (similar to OA)
Large joint mono/oligoarthritis
Seronegative (similar to RA)
Sacroilitis (similar to ank spond)
Arthritis mutilans

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43
Q

What are the treatments for psoriasis?

A

Emollients (itch)
Calcipotriol and steroid (different times of day)
Coal Tar: stains brown (8 weeks treatment failure)
Dithranol: stains purple and burns normal skin

Phototherapy: UVB or psoralen + UVA (PUVA)

Systemic
-Cytotoxics (methotrexate and ciclosporin)
-Anti-TNFa (adalimumab: Humira)
-Retinoids (Acitretin): teratogenic

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44
Q

What is the life threatening complication of psoriasis?

A

Erythroderma

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45
Q

What are the causes of nail pitting?

A

Psoriasis
Lichen planus
Alopecia areata
Fungal infections

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46
Q

What are the causes of the koebner phenomenon?

A

Psoriasis
Lichen planus
Viral warts
Vitiligo
Sarcoid

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47
Q

What are the treatments for eczema?

A

Avoid precipitants

Topical: emollients, steroids, tacrolimus (protopic and small increased risk of Bowen’s disease)

Anti-histamines for pruritis

Antibiotics for secondary infection

UV light therapy

Systemic therapy (pred) in severe cases

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48
Q

Station 5 history leg ulcers

A

PAIN: arterial (venous and neuropathic are painless)

Associated diseases:
-Venous: DVT, chronic venous insufficiency, varicose veins, CCF
-Arterial: PVD
-Neuropathic: sensory neuropathy, diabetes

Complications: systemic signs of infection

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49
Q

Station 5 exam leg ulcers?

A

Venous:
-Gaiter area of lower leg
-STIGMATA OF VENOUS HTN: varicose, oedema, lipodermatosclerosis, varicose eczema, atrophie blanche
-PELVIC/ ABDOMINAL MASS

Arterial
-Distal extremities and pressure points
-Trophic changes: hairless and paper-thin shiny skin
-Cold with poor capillary refill
-ABSENT DISTAL PULSES

Neuropathic
-Pressure areas e.g. under the metatarsal heads
-PERIPHERAL NEUROPATHY
-Charcot’s joints

Complications
-Infection: temperature, pus and cellulitis
-Malignant change: Marjolin’s ulcer (squamous cell carcinoma)

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50
Q

What are the causes of leg ulcers?

A

Venous,
arterial,
neuropathic (DM, Tabes dorsalis, syringomyelia)

Pressure
Vasculitic e.g. RA
Neoplastic e.g. SCC
Infectious e.g. syphilis
Haematological e.g. sickle cell anaemia
Tropical e.g. cutaneous leishmaniasis

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51
Q

What are the differentials for “diabetes and the skin”?

A

Shin:
-Necrobiosis lipoidica diabeticorum (wazy yellow, bruise, blood vessels)
-Diabetic dermopathy: red/brown, atrophic lesions
-vitiligo

Feet
-Granuloma annulare (fresh coloured papules in annular configuration (dorsum feet))
-leg ulcers
-eruptive xanthomata (yellow papules buttocks and knees (also elbow)
-candidiasis

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52
Q

What are the treatments for necrobiosis lipoidica diabeticorum?

A

Topical steroid and support bandaging
Tight glycaemic control does not help

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53
Q

What are the causes of xanthomata?

A

Hypercholesterolaemia: tendon xanthomata, xanthelasma and corneal arcus

Hypertriglyceridaemia: eruptive xanthomata and lipaemia retinalis

Other causes of secondary hyperlipidaemia:
-Hypothyroidism
-Nephrotic syndrome
-Alcohol
-Cholestasis

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54
Q

What are the causes of gynaecomastia?

A

Physiological: puberty and senility
Kleinifelter’s syndrome
Cirrhosis
Drugs: spironolactone and digoxin
Testicular tumour/ orchidectomy
Endocrinopathy (e.g. hyper/hypothyroidism and addisons

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55
Q

What are the autoantibodies in PBC?

A

Antimitochondrial antibody (M2 subtype) in 98%, increased IgM

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56
Q

What are the autoantibodies in PSC?

A

ANA, anti-smooth muscle may be positive

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57
Q

What are the autoantibodies in autoimmune hepatitis?

A

Anti smooth muscle
Anti liver/kidney microsomal type 1
Occasionally ANA may be positive

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58
Q

What are the complications of alcohol abuse?

A

Cardiac: Dilated cardiomyopathy and HTN

GI: Pancreatitis, peptic ulceration, upper GI cancer

Neuro: Cerebellar atrophy, polyneuropathy, Wernicke’s encephalopathy, Korsakoff’s syndrome

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59
Q

What are the clinical signs of haemochromatosis?

A

Increased skin pigmentation (slate grey colour)
Stigmata of chronic liver disease
Hepatomegaly

Scars:
-Venesection
-Liver biopsy
-Joint replacement
-Abdominal rooftop incision (hemihepatectomy for hepatocellular carcinoma)

Evidence of complications:
-Endocrine: “bronze diabetes” (e.g. injection sites), hypogonadism and testicular atrophy
-Cardiac: congestive cardiac failure
-Joints: arthropathy (pseudogout)

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60
Q

What is the inheritance of haemochromatosis?

A

Autosomal recessive on chromosome 6
HFE gene mutation: regulator of gut iron absorption
Homozygous prevalence: 1:300, carrier rate 1:10
Males affected at an earlier age than females: protected by menstrual iron losses

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61
Q

What is the investigation of haemochromatosis?

A

Increased serum ferritin
Increased transferrin saturation
Liver biopsy (previously) now more likely MRI (diagnosis and staging)
Genotyping

Also consider:
-Blood glucose (DM)
-ECG, CXR, ECHO (cardiac failure)
-Liver ultrasound, AFP (HCC)

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62
Q

What is the treatment of haemochromatosis?

A

Regular venesection (1unit/week) until iron deficient, then 1 unit 3-4 times per year

Avoid alcohol

Surveillance for HCC

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63
Q

What is the prognosis of haemochromatosis?

A

200 x increased risk of HCC if cirrhotic

Reduced life expectancy if cirrhotic

Normal life expectancy without cirrhosis + effective treatment

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64
Q

What is the triad of Henoch-Schonlein Purpura?

A

Purpuric rash: usually buttocks and legs
Arthritis
Abdominal Pain

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65
Q

What are the precipitants of Henoch-Schonlein Purpura?

A

Infections: streptococci, HSV, parvovirus B19 etc
Drugs: Abx

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66
Q

What is the prognosis in Breslow thickness?

A

<1.5mm = 90% 5 year survival
>3.5mm = 40% 5 year survival

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67
Q

What are the features of pseudoxanthoma elasticum?

A

Plucked chicken skin appearance: caused by loose skin folds (esp neck and axillae) with yellow pseudoxanthomatous plaques

Eyes:
-blue sclerae
-retinal angioid streaks (Cracks in Bruch’s membrane) and macular degeneration

Cardiovascular:
-Blood pressure: 50% are hypertensive, premature CAD
-Mitral valve prolapse: EC and PSM

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68
Q

What is the inheritance of pseudoxanthoma elasticum?

A

80% are autosomal recessive (ABCC6 gene on chromosome 16)

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69
Q

Station 5 exam Ehlers-Danlos

A

Skin and joints:
-Fragile skin: multiple ecchymoses, scarring - fish mouth scars esp on knees
-Hyperextensible skin: able to tent up skin when pulled
-Joint hypermobility and dislocation (scar from joint repair/ replacement)

Cardiac
-Mitral valve prolapse

Abdominal:
-Scars: aneurysmal rupture and dissection, bowel perf and bleeding

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70
Q

What are the rheumatoid arthritis hand signs?

A

Symmetrical and deforming polyarthropathy
Volar subluxation and ulnar deviation at the MCPJs
Subluxation at the wrist
Swan-neck deformity (hyperextension of PIPJ and flexion of DIPJ)
Boutonniere’s deformity (flexion of the PIPJ and hyperextension of the DIPJ)
Z thumbs
Muscle wasting (disuse atrophy)

Surgical scars:
-Carpal tunnel release (wrist)
-Joint replacement (especially thumb)
-Tendon transfer (dorsum of hand)

Rheumatoid nodules (elbows)

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71
Q

What are the systemic manifestations of RA?

A

Pulmonary:
-Pleural effusions
-Fibrosing alveolitis
-Obliterative bronchiolitis
-Caplan’s nodules

Eyes:
-Dry (secondary Sjogren’s)
-Scleritis

Neurological
-Carpal tunnel syndrome (commonest)
-Atlanto-axial subluxation (quadriplegia)
-Peripheral neuropathy

Haemotological
-Felty’s syndrome: RA and splenomegaly and neutropenia
-Anaemia (all types!)

Cardiac
-Pericarditis

Renal
-Nephrotic syndrome (secondary amyloidosis or membraneous glomerulonephritis, e.g. due to penicillamine)

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72
Q

What is the diagnostic criteria for rheumatoid arthritis?

A

4/7 of american college of rheumatology criteria

Morning stiffness
Arthritis in 3+ joint areas
Arthritis of hands
Symmetrical arthritis
Rheumatoid nodules
Positive rheumatoid factor
Erosions on joint radiographs

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73
Q

What is the prognosis of rheumatoid arthritis?

A

5 years - 1/3 unable to work
10 years - 1/2 significant disability

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74
Q

Station 5 exam SLE

A

Face:
-Malar ‘butterfly’ rash
-Discoid rash +/- scarring (discoid lupus)
-Oral ulceration
-Scarring alopecia

Hands:
-Vasculitis lesions (nail fold infarcts)
-Jaccoud’s arthropathy (mimics RA but due to contractures)

Systemic effects of SLE
-Resp: pleural effusion, pleural rub, fibrosing alveolitis
-Neuro: focal neurology, chorea, ataxia
-Renal: HTN

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75
Q

What is the diagnostic criteria for SLE?

A

4/11 of american college of rheumatology criteria

Malar rash
Discoid rash
Photosensitivity
Oral ulcers
arthritis
Serositis (pleuritis or pericarditis)
Renal involvement (proteinuria or cellular casts)
Neurological disorder (seizures of psychosis)
Haematological disorder (AHA or pancytopenia)
Immunological disorders (positive anti-dsDNA or anti-SM antibodies)
Elevated ANA titre

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76
Q

What is the treatment for SLE?

A

Mild disease (cutaneous/ joint involvement only)
-Topical corticosteroids
-Hydroxychloroquine

Moderate disease (+ other organ involvement)
-Prednisolone
-Azathioprine

Severe disease (+ severe inflammatory involvement of vital organs):
-Methylprednisolone
-Mycophenolate motefil (lupus nephritis)
-Cyclophosphamide
-Azathioprine

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77
Q

What are the side effects of cyclophosphamide?

A

HHIT

Haematological and Haemorrhagic cystitis (mesna)
Infertility
Teratogenicity

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78
Q

Station 5 examination: Systemic sclerosis?

A

Hands:
-Sclerodactyly: ‘prayer sign’
-Calcinosis (may ulcerate)
-Assess function: holding cup or pen

Face:
-Tight skin
-Beaked nose
-Microstomia
-Peri-oral furrowing
-Telangiectasia
-Alopecia

Other skin lesions:
-Morphoea: focal/ generalised patches of sclerotic skin
-En coup de sabre (scar down central forehead)

Blood pressure:
-HTN

Respiratory
-Interstitial Fibrosis (fine and bibasal creps)

Cardiac
-Pulmonary HTN: RV heave, loud P2 and TR
-Evidence of failure
-Pericarditis (rub)

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79
Q

What is the difference in features of limited systemic sclerosis and diffuse systemic sclerosis?

A

Limited:
-Distribution limited to below elbows and knees and face
-Slow progression (years)

Diffuse:
-Widespread cutaneous and early visceral involvement
-Rapid progression (months)
-Includes CREST

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80
Q

What are the features of CREST syndrome?

A

Calcinosis
Raynaud’s phenomenon
Esophageal dysmotility
Sclerodactyly
Telangiectasia

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81
Q

What are the investigations for systemic sclerosis?

A

Autoantibodies:
-ANA positive in 90%
-Anti-centromere antibody = limited (in 80%)
-Scl-70 antibody = diffuse (in 70%)

Hand radiographs: calcinosis

Pulmonary disease: lower lobe fibrosis and aspiration pneumonia
-CXR, HRCT and pulmonary function tests

GI disease: dysmotility and malabsorption
-Contrast scans, FBC and B12/folate

Renal disease: glomerulonephritis
-U+Es, urinalysis, urine microscopy (casts) and consider renal biopsy

Cardiac disease: myocardial fibrosis and arrhythmias
-ECG and ECHO

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82
Q

What is the management of systemic sclerosis?

A

Symptomatic treatment only:
-Camouflage creams
-Raynaud’s therapy: gloves, hand warmers etc; CCBs; ACEi; prostacyclin infusion (if severe)
-Renal: ACEi: prevent HTN crisis and reduce mortality from renal failure
-GI: PPI for reflux

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83
Q

What is the prognosis for diffuse systemic sclerosis?

A

50% survival to 5 years (most deaths are due to respiratory failure)

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84
Q

What are the complications of ankylosing spondylosis?

A

Anterior uveitis (commonest 30%)
Apical lung fibrosis
Aortic regurgitation (4%): midline sternotomy
Atrio-ventricular nodal heart block (10%): pacemaker
Arthritis (may be psoriatic arthropathy)

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85
Q

Station 5 exam: Marfan’s syndrome

A

Spot diagnosis: Tall with long extremities (arm span > height)

Hands:
-Arachnodactyly: can encircle wrist with thumb and little finger
-Hyperextensible joints: thumb able to touch ipsilateral wrist

Face:
-high arched palate with crowded teeth
-iridodonesis (with upward lens dislocation)

Respiratory:
-Pectus carinatum or excavatum
-Scoliosis
-Scars from cardiac surgery or chest drains (pneumothorax)

Cardiac
-Aortic incompetence: collapsing pulse
-Mitral valve prolapse
-Coarctation

Abdominal
-Inguinal herniae and scars

CNS
-NORMAL IQ

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86
Q

What are the genetics of marfan’s syndrome?

A

Autosomal dominant and chromosome 15
Defect in fibrillin protein (connective tissue)

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87
Q

What is the management of marfan’s syndrome?

A

Surveillance: monitoring of aortic root size with annual TTE

Treatment: B-blockers and angiotensin receptor blocker to slow aortic root dilatation and pre-emptive aortic root surgery to prevent dissection and aortic rupture

Screen family members

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88
Q

What are the stages and features of diabetic retinopathy?

A

Background retinopathy
-Hard exudates
-Blot haemorrhages
-Microaneurysms
(Routine referral to eye clinic)

Pre-proliferative retinopathy
-Background changes plus:
-Cotton wool spots
-Flame haemorrhages
Also venous beading and loops and IRMAs (intraretinal microvascular abnormalities)
(Urgent referral to ophthalmology)

Proliferative retinopathy
-Pre-proliferative changes plus:
-Neovascularisation of the disc (NVD) and elsewhere
-Panretinal photocoagulation scars (treatment)
(Urgent referral to ophthalmology)

Diabetic maculopathy
-Macular oedema or hard exudates within one disc space of the fovea
-Treated with focal photocoagulation
(Urgent referral to ophthalmology)

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89
Q

What are the indications for photocoagulation therapy in diabetic retinopathy?

A

Maculopathy

Proliferative and pre-proliferative diabetic retinopathy

Pan retinal photocoagulation prevents the ischaemic retinal cells secreting angiogenesis factors causing neovascularisation. Focal photocoagulation targets problem vessels at risk of bleeding.

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90
Q

What are the complications of proliferative diabetic retinopathy?

A

Vitreous haemorrhage (may require vitrectomy)

Traction retinal detachment

Neovascular glaucoma due to rubeosis iridis

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91
Q

What are the causes of glaucoma?

A

Congenital (pre-senile): rubella, Turner’s syndrome, Dystrophia myotonica (bilateral ptosis)

Acquired: age (usually bilateral), diabetes, drugs (steroids), radiation exposure, trauma and storage disorders

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92
Q

What is the treatment of glaucoma?

A

Phacoemulsification with prosthetic lens implantation

Yttrium aluminium garnet (YAG) laser capsulotomy

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93
Q

Station 5 exam: Thyroid

A

Smooth diffuse goitre

EYE SIGNS
Specific to graves
-Proptosis
-Chemosis
-Exposure keratitis
-Ophthalmoplegia

Hyperthyroidism
-Lid retraction
-Lid lag

PERIPHERAL SIGNS
Specific to Graves’
-Thyroid acropachy
-Pretibial myxoedema

Hyperthyroidism
-Agitation
-Sweating
-Tremor
-Palmar erythema
-Sinus tachy/ AF
-Brisk reflexes

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94
Q

Describe the progression of eye signs in Graves’ disease

A

NOSPECS

No signs or symptoms
Only lid lag/ retraction
Soft tissue involvement
Proptosis
Extraocular muscle involvement
Chemosis
Sight loss due to optic nerve compression and atrophy

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95
Q

What is the management of Graves’ disease?

A

B-blocker, e.g. propranolol

Carbimazole or propylthiouracil (both thionamides)
-Block and replace with thyroxine
-Titrate dose and monitor endogenous thyroxine
—Stop at 18 months and assess for return of thyrotoxicosis. One third will remain euthyroid

If thyrotoxicosis returns, the options are:
-A repeat course of a thionamide
-Radioiodine: hypothyroidism common
-Subtotal thyroidectomy

Severe ophthalmopathy may require high-dose steroids, orbital irradiation or surgical decompression to prevent visual loss

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96
Q

What drugs are associated with hypothyroidism?

A

Amiodarone
Lithium
Anti-thyroid drugs

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97
Q

What illnesses are associated with hypothyroidism?

A

Previously treated thyroid disease
Autoimmune: Addison’s disease, vitiligo and T1DM
Hypercholesterolaemia
History of ischaemic heart disease: treatment with thyroxine may precipitate angina

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98
Q

Station 5 exam hypothyroidism

A

Hands
-Slow pulse
-Dry skin
-Cool peripheries

Head/face/neck
-‘Peaches and cream’ complexion (anaemia and carotenaemia)
-Eyes: peri-orbital oedema, loss of eyebrows and xanthelasma
-Thinning hair
-Goitre or thyroidectomy scar

Legs:
-Slow relaxing ankle jerk (tested with patient kneeling on chair)

Complications:
-Cardiac: pericardial effusion (rub), CCF (oedema)
-Neurological: carpel tunnel syndrome (Phalen’s, Tinel’s test), proximal myopathy (stand from sitting), ataxia

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99
Q

What are the investigations for hypothyroidism?

A

TSH (increased in thyroid failure, decreased in pituitary failure), T4 decreased, autoantibodies

Other bloods:
-Hyponatraemia
-Hypercholesterolaemia
-Macrocytic anaemia
-Consider short synACTHen test (exclude addison’s)

ECG: pericardia effusion and ischaemia

CXR: pleural effusion and CCF

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100
Q

What are the causes of hypothyroidism?

A

Autoimmune:
-Hashimoto’s thyroiditis (+goitre) and atrophic hypothyroidism

Iatrogenic:
-Post thyroidectomy or iodine, amiodarone, lithium and anti-thyroid drugs

Iodine deficiency: dietary (‘Derbyshire neck’)

Dyshormonogenesis

Genetic: Pendred’s syndrome (with deafness)

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101
Q

What are the complications to look for in acromegaly?

A

ABCD….

Acanthosis nigricans
BP (increased)
Carpal tunnel syndrome, Calcium
DM*
Enlarged organs
Field defect* (bitemporal hemianopia)
Goitre, GI malignancy
Heart failure, hirsute, hypopituitary
IGF-1
Joint arthropathy
Kyphosis
Lactation (galactorrhoea)
Myopathy (proximal)

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102
Q

What are the investigations in acromegaly?

A

Diagnostic
-Non suppression of GH after oral glucose tolerance test
-Raised plasma IGF-1
-CT/MRI pituitary fossa: pituitary adenoma
-Also assess other pituitary functions

Complications:
-CXR: cardiomegaly
-ECG: ischaemia (DM and hypertension)
-Pituitary function tests: T4, ACTH, PRL and testosterone
-Glucose: DM
-Visual perimetry: bitemporal hemianopia
-Obstructive sleep apnoea (in 50%): due to macroglossia
-Scopes: GI malignancy surveillance

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103
Q

What is the management of acromegaly?

A

Aim is to normalise GH and IGF-1 levels

Surgery: trans-sphenoidal approach
-Medical post op complications: meningitis, diabetes insipidus, panhypopituitarism

Medical therapy: somatostatin analogues (Ocreotide), dopamine agonists (Cabergoline) and GHR antagonists (Pegvisomant)

Radiotherapy in non-surgical candidates

Follow up: Annual GH, PRL, ECG, visual fields and CXR +/- CTB

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104
Q

What are the features of MEN 1?

A

Parathyroid hyperplasia (hypercalcaemia)
Pituitary tumours
Pancreatic tumours (gastrinomas)

Autosomal dominant, chromosome 11

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105
Q

What are the causes of macroglossia?

A

Acromegaly
Amyloidosis
Hypothyroidism
Down’s syndrome

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106
Q

What are the associations of acanthosis nigricans?

A

Obesity
T2DM
Acromegaly
Cushing’s syndrome
Ethnicity: Indian Subcontinent
Malignancy: e.g. gastric carcinoma and lymphoma

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107
Q

What are the complications of cushing’s disease?

A

HTN
DM
Osteoporosis
Cellulitis
Proximal myopathy (stand from sitting)

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108
Q

What is the investigations for Cushing’s?

A
  1. Confirm high cortisol
    -24 hour urine collection
    -Low dose (for 48hrs) or overnight dexamethasone suppression test

(suppressed cortisol: alcohol/ depression/ obesity (“pseudocushing’s”)

  1. If elevated cortisol confirmed, then identify cause
    -ACTH level:
    —High: ectopic ACTH secreting tumour or pituitary adenoma
    —Low: adrenal adenoma/ carcinoma
    -MRI pituitary fossa +/- adrenal CT +/- whole body CT (to locate lesion)
    -Bilateral inferior petrosal sinus vein sampling (best test to confirm pituitary vs ectopic origin; may also lateralise pituitary adenoma)
    -High dose dexamethasone suppression test may help >50% suppressed cortisol = Cushing’s disease
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109
Q

What it the treatment for Cushing’s disease?

A

Surgical: Trans-sphenoidal approach to remove pituitary tumours. Adrenalectomy for adrenal tumours

Nelson’s syndrome: bilateral adrenalectomy (scars) to treat Cushing’s disease, causing massive production of ACTH (and melanocyte-stimulating hormone), due to lack of feedback inhibition, leading to hyper-pigmentation and pituitary overgrowth)

Pituitary irradiation

Medical: Metyrapone

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110
Q

What is the prognosis of untreated Cushing’s syndrome?

A

50% mortality at 5 years (due to accelerated ischaemic heart disease secondary to diabetes and hypertension)

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111
Q

What are the causes of proximal myopathy?

A

Inherited: Myotonic dystrophy, Muscular dystrophy

Endocrine: Cushing’s syndrome, Hyperparathyroidism, thyrotoxicosis, Diabetic amyotrophy

Inflammatory: polymyositis, RA

Metabolic: osteomalacia

Malignancy: paraneoplastic, lambert-eaton myasthenic syndrome

Drugs: alcohol, steroids

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112
Q

What are the causes of addison’s ?

A

80% due to autoimmune disease

Adrenal mets
Adrenal TB
Amyloidosis
Adrenalectomy
Waterhouse-Friederichsen syndrome (meningococcal sepsis and adrenal infarction)

113
Q

What are the investigations for addison’s disease?

A

Investigations in order:
-8am cortisol: no morning elevation suggests Addison’s (unreliable)
-Short synACTHen test: exclude Addison’s disease if cortisol rises to adequate levels
-Long synACTHen test: diagnosis Addison’s disease if cortisol does not rise to adequate levels
-Adrenal imaging (primary) and/or pituitary imaging (secondary with MRI or CT

Other tests:
-Blood: eosinophilia, hyponatraemia, hyperkalaemia, increased urea, hypoglycaemia, adrenal autoantibodies, TFTs
-CXR: malignancy or TB

114
Q

What is the treatment for Addison’s disease?

A

Acute (adrenal crisis)
-0.9% saline IV rehydration +++ and glucose
-Hydrocortisone
-Treatment may unmask diabetes insipidus (cortisol is required to excrete a water load)
-Anti-TB treatment increases clearance of steroid, therefore higher doses required

Chronic:
-Education: compliance, increase steroid dose if ill, steroid card, medic alert bracelet
-Titrate maintanence hydrocortisone (and fludrocortisone) dose to levels/ response

115
Q

What are the investigations for sickle cell?

A

Blood tests: low Hb, high WCC and CRP; renal impairment; sickling on blood film

CXR: linear atelectasis in chest crisis/ cardiomegaly (anaemia)

Urinalysis: microscopic haematuria if renal involvement in crisis

ABG: T1RF

Echo: dilated right ventricle with impaired systolic function; raised peak TR velocity: abnormal range for sickle cell patients is lower than other populations

CTPA: linear atelectasis with patchy consolidation +/- acute PE

116
Q

What is the treatment for sickle cell anaemia?

A

Oxygen +/- CPAP
IVF
ANALGESIA
Antibiotics if evidence of infection
Blood transfusion/exchange transfusion depending on degree of anaemia and severity of crisis

Hydroxycarbamide or exchange transfusion programme is frequent crises or other features suggestive of a poor prognosis

Long term treatment with folic acid and penicillin as patient will have features of hyposplenism

May need further investigation of possible pumonary HTN

117
Q

What are the signs of the 4 common PACES underlying disorders to detect in splenomegaly?

A

Lymphadenopathy - Haematological and infective

Stigmata of chronic liver disease - Cirrhosis with portal hypertension

Splinter haemorrhages, murmur etc - Bacterial endocarditis

Rheumatoid hands - Felty’s syndrome

118
Q

What are the causes of massive (>8cm), Moderate (4-8cm), Tip (<4cm) splenomegaly?

A

Massive:
-Myeloproliferative disorders (CML and myelofibrosis)
-Tropical infections (malaria, visceral leishmaniasis: kala-azar)

Moderate:
-Myelo/lymphoproliferative disorders
-Infiltration (Gaucher’s and amyloidosis)

Tip:
-Myelo/lymphoproliferative disorders
-Portal hypertension
-Infections (EBV, infective endocarditis and infective hepatitis)
-Haemolytic anaemia

119
Q

What are the indications for splenectomy?

A

Rupture (trauma)

Haematological (ITP and hereditary spherocytosis)

120
Q

What must all patients have post splenectomy?

A

Vaccination (ideally 2/52 prior to protect against encapsulated organisms)
-Pneumococcus
-Meningococcus
-Haemophilus influenzae

Prophylactic penicillin: (lifelong)

Medic alert bracelet

121
Q

What are the causes of unilateral kidney enlargement?

A

Polycystic kidney disease (other kidney not palpable or contralateral nephrectomy - flank scar)

Renal cell carcinoma

Simple cyts

Hydronephrosis (due to ureteric obstruction)

122
Q

What are the causes of bilateral kidney enlargement?

A

Polycystic kidney disease

Bilateral renal cell carcinoma (5%)

Bilateral hydronephrosis

Tuberous sclerosis (renal angiomyolipomata and cysts)

Amyloidosis

123
Q

What are the genetics of autosomal dominant polycystic kidney disease?

A

Prevalence 1:1000

Genetics: 85% ADPKD1 chromosome 16; 15% ADPKD2 chromosome 4

124
Q

What is the other organ involvement in ADPKD?

A

Hepatic cysts and hepatomegaly (rarely liver failure)

Intracranial berry aneurysms (neurological sequelae/ craniotomy scar?)

Mitral valve prolapse

125
Q

What is the treatment for ADPKD?

A

Mostly symptomatic/ complication management

Pain: paracetamol or opiates (avoid NSAIDs)
HTN control

Surgical management: high cyst burden or high total kidney volume

Transplant is gold standard in renal failure with haemo/peritoneal dialysis as bridge

Tolvaptan in those who qualify.

126
Q

What are the top 3 reasons for liver transplantation?

A

Cirrhosis

Acute hepatic failure: hep A and B, paracetamol overdose

Hepatic malignancy (hepatocellular carcinoma)

127
Q

What is the success of liver transplantation?

A

80% 1 year survival
70% 5 year survival

128
Q

What are the causes of gum hypertrophy?

A

Drugs: ciclosporin, phenytoin and nifedipine
Scurvy
Acute myelomonocytic leukaemia
Pregnancy
Familial

129
Q

What skin signs should you look for in any transplanted patient?

A

Malignancy:
-Dysplastic change (actinic keratoses)
-Squamous cell carcinoma (100 x increased risk and multiple lesions)
-Basal cell carcinoma and malignant melanoma (10 x increased risk)

Infection:
-Viral warts
-Cellulitis

130
Q

What are the top three causes of renal transplantation?

A

Glomerulonephritis
Diabetic nephropathy
Polycystic kidney disease

131
Q

What are the post transplant problems in renal patients?

A

Rejection: acute or chronic

Infection secondary to immunosuppression: PCP, CMV

Increased risk of other pathology: skin malignancy, PTLD, HTN and hyperlipidaemia causing cardiovascular disease

Immunosuppressant drug side effects/ toxicity
-Ciclosporin nephrotoxicity

Recurrence of original disease

Chronic graft rejection

132
Q

What is the success of renal transplants?

A

90% 1 year graft survival
50% 10 year graft survival (better with live-related donor grafts)

133
Q

What are the investigations for pulmonary fibrosis?

A

Bloods: including ESR, RF, ANA, aspergillus serology and IgE

CXR: reticulonodular changes; loss of differentiation of either heart border; small lungs

ABG: T1RF

PFTs: FEV1/FVC >0.8; low TLC (small lungs)
-Reduced TLco and Kco

Bronchoalveolar lavage: main indication to exclude infection prior to immunosuppression plus if lymphocytes > neutrophils indicate a better response to steroids and better prognosis (sarcoidosis)

High resolution CT scan:
-Bibasal subpleural honeycombing typical of UIP
-Widespread ground glass more NSIP (often associated with autoimmune disease)
-Apical think sarcoidosis, ABPA, old TB, HP, Langerhan’s cell histiocytosis

Lung biopsy (associated morbidity around 7%)

134
Q

What is the treatment for pulmonary fibrosis?

A

Treat underlying cause

Immunosuppression if likely to be inflammatory
-Steroids NSIP (steroids + azathioprine no longer used since PANTHER trial)

Pirfenidone - for UIP when FEV1 50-80% pred

N-acetyl cysteine - free radical scavenger

Single lung transplant

135
Q

What is the prognosis for pulmonary fibrosis?

A

Highly variable (depends on aetiology)

Highly cellular with ground glass infiltrate - responds to immunosuppression: 80% 5 year survival

Honeycombing on CT - no response to immunosuppression: 80% 5 year mortality

There is increased risk of bronchogenic carcinoma

136
Q

What are the causes of basal fibrosis?

A

UIP
Asbestosis
Connective tissue diseases
Aspiration

RASCO
rheumatoid arthritis
asbestosis
scleroderma
cryptogenic fibrosing alveolitis
other (drugs, e.g. busulphan, bleomycin, nitrofurantoin, hydralazine, methotrexate, amiodarone)

137
Q

What are the causes of upper lobe fibrosis?

A

CHARTS
coal workers’ pneumoconiosis (progressive massive fibrosis)
histiocytosis
ankylosing spondylitis
allergic bronchopulmonary aspergillosis
radiation
tuberculosis
silicosis (progressive massive fibrosis), sarcoidosis

138
Q

What are the investigations for bronchiectasis?

A

General:
-Sputum culture and cytology
-CXR: tramlines and ring shadows
-HRCT

For a specific cause
-Immunoglobulins: hypogammaglobulinaemia
-Aspergillus RAST or skin prick
-Rheumatoid serology
-Saccharine ciliary motility test
-Genetic screening
-History of IBD

139
Q

What are the causes of bronchiectasis?

A

Congenital: Kartagener’s and CF

Childhood infection: measles and TB

Immune OVER activity: ABPA; inflammatory bowel disease associated

Immune UNDER activity: hypogammaglobulinaemia; CVID

Aspiration: chronic alcoholics and GORD; localised to right lower lobe

140
Q

What is the treatment for bronchiectasis?

A

PT- active cycle breathing
Prompt antibiotic therapy for exacerbations
Long term treatment with low dose azithromycin 3x weekly
Bronchodilators/ inhaled corticosteroids if airflow obstruction
Surgery occasionally for localised disease

141
Q

What are the complications of bronchiectasis?

A

Cor pulmonale

(Secondary) amyloidosis (dip urine for protein)

Massive haemoptysis (mycotic aneurysm)

142
Q

What are the features of aortic stenosis?

A

Crescendo-decresendo, ESM loudest in the aortic area during respiration and radiating to the carotids

Severity:
-soft and delayed A2
-Delayed ESM
-fourth heart sound

143
Q

What is the differential diagnosis for aortic stenosis?

A

HOCM
VSD
Aortic sclerosis
Aortic flow: pregnancy or anaemia
MR

144
Q

What are the causes of aortic stenosis?

A

Congenital: bicuspid
Acquired = AS = Age, Streptococcal (rheumatic)

145
Q

What are the associations of aortic stenosis?

A

Coarctation and bicuspid aortic valve
Angiodysplasia

146
Q

What is the prognosis of aortic stenosis based on symptoms?

A

Angina = 50% mortality at 5 years

Syncope = 50% mortality at 3 years

Breathlessness = 50% mortality at 2 years

147
Q

What is the management of aortic stenosis?

A

Asymptomatic = monitor

Symptomatic:
-Surgical: Aortic valve replacement +/- CABG
-Percutaneous: balloon aortic valvuloplasty, TAVI

148
Q

What is Duke’s criteria?

A

Major
-Typical organism in two blood cultures
-ECHO: abscess, large vegetation, dehiscence

Minor
-Pyrexia >38
-ECHO suggestive
-Predisposed, e.g. prosthetic valve
-Embolic phenomena (increased ESR, CRP)
-Atypical organism on blood culture

Diagnose IE if 2 major, 1 major and 2 minor or 5 minor criteria

149
Q

Who has antibiotic prophylaxis for IE?

A

Prosthetic valves
Previous IE
Cardiac transplant with valvulopathy
Certain types of congenital heart disease

150
Q

What are the features of aortic incompetence?

A

Collapsing pulse
Apex beat hyperkinetic and displaced laterally (thrusting)
Thrill in aortic area

Early diastolic murmur loudest at lower left sternal edge with patient sat forward on expiration

There may be aortic flow murmur (crescendo-decresendo systole) and a mid diastolic murmur (Austin flint) due to regurgitant flow impeding mitral opening

151
Q

What are the causes of aortic incompetence?

A

Congenital: bicuspid aortic valve; perimembranous VSD

Valve leaflet:
-Acute: IE
-Chronic: Rheumatic fever, Drugs: pergolide, slimming agents

Aortic root:
-Acute: Dissection (Type A), Trauma
-Chronic: dilatation (marfan’s and hypertension), Aortitis (syphilis, ank spond, vasculitis)

152
Q

What are the causes of a collapsing pulse?

A

Aortic incompetence
Pregnancy
PDA
Paget’s disease
Anaemia
Thyrotoxicosis

153
Q

What is the management of aortic incompetence?

A

Medical
-ACEi and ARBs (reduce the afterload)
-Regular review: symptoms, ECHO

Surgery:
-Acute: dissection, aortic root abscess/ endocarditis

Chronic:
Replace valve when symptomatic and/or certain criteria are met
-Wide pulse pressure >100mmHg
-ECG changes (on ETT)
-ECHO: LV enlargement >5.5cm systolic diameter or EF <50%

154
Q

What are the examination findings for mitral stenosis?

A

Malar flush
Irregularly irregular pulse
Tapping apex (palpable first heart sound)
Left parasternal heave if pulm HTN or enlarged left atrium

Loud first heart sound
Opening snap followed by mid diastolic murmur heard best at apex, in left lateral position, in expiration with bell

Look for Pulm HTN, endocarditis or stroke (risk high if mitral stenosis and AF)

155
Q

What are the causes of mitral stenosis?

A

Congenital (rare)

Acquired
-Rheumatic (commonest)
-Senile degeneration
-Large mitral leaflet vegetation from endocarditis (mitral plop and late diastolic murmur)

156
Q

What is the differential for mitral stenosis?

A

Left atrial myxoma
Austin-Flint Murmur

157
Q

What are the investigations for mitral stenosis?

A

ECG: p-mitrale (broad, bifid) and AF

CXR: enlarged left atrium (splayed carina), calcified valve, pulmonary oedema

TTE/TOE: valve area (<0.1cm is severe), cusp mobility, calcification and left atrial thrombus, right ventricular failure

158
Q

What is the management of mitral stenosis?

A

Medical: +AF: rate control and oral anticoagulants, diuretics

Mitral valvuloplasty: if pliable, non-calcified with minimal regurgitation and no left atrial thrombus

Surgery: closed mitral valvotomy (without opening the heart) or open valvotomy or valve replacement

159
Q

What is the prognosis of mitral regurgitation?

A

Latent asymptomatic phase 15-20 years
NYHA >II - 50% mortality at 5 years

160
Q

What are the Duckett-Jones diagnostic criteria for Rheumatic fever?

A

Proven B-haemolytic streptococcal infection diagnosed by throat swab, rapid antigen detection test, anti-streptolysin-O titre or clinical scarlet fever

PLUS

2 major or 1 major and 2 minor:

Major:
-Chorea
-Erythema marginatum
-Subcutaneous nodules
-Polyarthritis
-Carditis

Minor:
-Raised ESR
-Raised WCC
-Arthralgia
-Prev rheumatic fever
-Pyrexia
-Prolonged PR interval

161
Q

What are the causes of mitral incompetence?

A

Congenital (association between cleft mitral valve and primum ASD)

Acquired:

Valve leaflets
-Acute: IE
-Chronic: Myomatous degeneration (prolapse), rheumatic, connective tissue disease, fibrosis (fenfluramine/ pergolide)

Valve annulus:
-Dilated left ventricle (functional MR)
-Calcification

Chordae/ papillae
-Acute: rupture
-Chronic: infiltration (e.g. amyloid), fibrosis (post MI/ trauma)

162
Q

What are the investigations for mitral incompetence?

A

ECG: p-mitrale, AF and previous infarction (q waves)

CXR: cardiomegaly, enlargement of the left atrium and pulmonary oedema

3x blood cultures

TTE/TOE:
-Severity: size/ density of MR jet, angle of regurgitant jet determines if MVP, LV dilatation and reduced EF
-Can show underlying cause

163
Q

What is the management of mitral regurgitation?

A

Medical: anticoagulation for AF or embolic complications

Percutaneous: mitral clip device for palliation in inoperative cases of mitral valve prolapse

Surgical: valve repair (preferable) with annuloplasty ring or replacement
-aim to operate when symptomatic, prior to severe LV dilatation and dysfunction

164
Q

What is the prognosis of mitral incompetence?

A

Often asymptomatic for >10 years

Symptomatic - 25% mortality at 5 years

165
Q

What are the indications for surgery in mitral incompetence?

A

Symptomatic
LVEF <60%
LV end systolic dimension >45mm
AF
Systolic pulmonary pressure >50mmHg

166
Q

What are the clinical signs of tricuspid incompetence?

A

Raised JVP with giant CV waves
Thrill left sternal edge

-Pan-systolic murmur (PSM) loudest at the tricuspid area (lower left sternal edge) in inspiration

-Reverse split second heart sound due to rapid RV emptying

-Right ventricular rapid filling gives an S3

Pulsatile liver, ascites and peripheral oedema
Endocarditis (IVDU)
Pulm HTN
other valve lesions: rheumatic mitral stenosis

167
Q

What are the causes of tricuspid regurgitation?

A

Congenital: Ebstein’s anomaly (atrialization of the right ventricle and TR)

Acquired:
-Acute: infective endocarditis (IVDU)
-Chronic: functional (commonest), rheumatic and carcinoid syndrome

168
Q

What is the investigation for tricuspid regurgitation?

A

ECG: p-pulmonale (large, peaked) and RVH

CXR: double right heart border (enlarged right atrium)

TTE: TR jet, RV dilatation

169
Q

What is the management of tricuspid regurgitation?

A

Medical: diuretics, B-blockers, ACE inhibitors and support stockings for oedma

Surgical: valve repair annuloplasty if medical treatment fails

170
Q

What are the clinical signs of old TB?

A

Chest deformity and absent ribs; thoracoplasty scar

Tracheal deviation towards the site of the fibrosis (traction)

Reduced expansion

Dull percussion but present tactile vocal fremitus

Crackles and bronchial breathing

171
Q

What are the TB drugs and their side effects?

A

Isoniazid - Peripheral neuropathy (Rx Pyridoxine) and hepatitis

Rifampicin - Hepatitis and increased contraceptive pill metabolism

Ethambutol - Retro-bulbar neuritis and hepatitis

Pyrazinamide - Hepatitis

172
Q

What are the causes of apical fibrosis?

A

CHARTS

-Coal workers pneumoconiosis (and other hypersensitivity pneumonitis)
-Histoplasmosis/ Histiocytosis X
-Ankylosing spondylosis
-Radiation
-TB
-Sarcoidosis

173
Q

What are the clinical signs of a lobectomy?

A

Reduced expansion and chest wall deformity

Thoracotomy scar: same for either upper or lower lobe

Trachea is central

Lower lobectomy: dull percussion note over lower zone with absent breath sounds

Upper lobectomy: may have normal examination or may have a hyper-resonant percussion note over upper zone with a dull percussion note at the base where the hemidiaphragm is elevated.

174
Q

What are the clinical signs of a pneumonectomy?

A

Thoracotomy scar (indistinguishable from thoracotomy scar for lobectomy)

Reduced expansion on side of pneumonectomy

Trachea deviated towards the side of the pneumonectomy

Dull percussion note throughout the hemithorax

Absent tactile vocal fremitus beneath the thoracotomy scar

Bronchial breathing in the upper zone with reduced breath sound throughout remainder of hemithorax.

175
Q

What are the indications for a single lung transplant?

A

Dry lung conditions:
-COPD, pulmonary fibrosis

176
Q

What are the indications for a double lung transplant?

A

Wet lung conditions:
-CF, bronchiectasis, pulmonary HTN

177
Q

What is the surgical management of COPD?

A

(careful patient selection is important)

-Bullectomy (if bullae >1L and compresses surrounding lung)
-Endobronchial valve placement
-Lung reduction surgery (only suitable for a few patients with heterogenous distribution of emphysema
-Single lung transplant

178
Q

What are the inclusion criteria for LTOT in COPD?

A

Non smoker

PaO2 <7.3 on air
PaO2 <8 if cor pulmonale

(improves average survival by 9 months)

179
Q

What are the clinical signs of pulmonary stenosis?

A

Raised JVP with giant a waves

Left parasternal heave

Thrill in the pulmonary area

Ejection systolic murmur heard loudest in the pulmonary area in inspiration.
-Widely split second heart sounds, due to a delay in RV emptying
-Severe: inaudible P2, longer murmur duration obscuring A2

Right ventricular failure: ascites and peripheral oedema

Tetralogy of Fallot: PS, VSD, overriding aorta and RVH (sternotomy scar)

Noonan’s syndrome: phenotypically like Turner’s syndrome but male sex

180
Q

What is the management of pulmonary stenosis?

A

Pulmonary valvotomy - if gradient >70mmHg or there is RV failure

Percutaneous pulmonary valve implantation (PPVI)

Surgical repair/ replacement

181
Q

What are the complications of a metallic heart valve?

A

Thromboembolus: 1-2% annually despite warfarin

Bleeding: fatal 0.6%, major 3%, minor 7% per annum on warfarin

Bioprosthetic dysfunction and LVF: usually within 10 years, can be treated percutaneously (valve in valve)

Haemolysis: mechanical red blood cell destruction

Infective endocarditis: 60% mortality if prosthetic valve infected

AF: particularly in MVR.

182
Q

What are the primary prevention indications for an ICD?

A

MI >4 weeks ago (NYHA no worse than III)
-LVEF <35% AND non sustained VT AND positive EP study OR
-LVEF <30% and QRSd > 120 ms

Familial conduction with high-risk SCD
-LQTS, ARVD, Brugada, HCM, Complex congenital heart disease

183
Q

What are the secondary prevention indications for an ICD?

A

Cardiac arrest due to VT or VF OR

Haemodynamically compromising VT OR

VT with LVEF <35% (not NHYA IV)

184
Q

What are the indications for cardiac resynchronisation therapy (CRT)?

A

LVEF <35%

NYHA II-IV on optimal medical therapy

Sinus rhythm and QRSd >150 milliseconds (if LBBB morphology may be >120 miliseconds)

185
Q

What are the clinical signs of pericardial disease (e.g. constrictive or restrictive pericarditis)?

A

Predominantly right side heart failure
-Raised JVP (dominant, brief y-descent)
-Kussmaul’s sign (paradoxical increase in JVP on inspiration

Pulsus paradoxus (10mmHg drop in systolic pressure in inspiration)

Auscultation: pericardial knock (audible, early S3)

Ascites, hepatomegaly (congestion) and bilateral peripheral oedema

186
Q

What investigation finding differentiate constrictive and restrictive pericardial disease?

A

Constrictive
-Calcification on CXR
-Bright, thick and white pericardium on ECHO

Cardiac MRI will show restrictive cardiomyopathy

Cardiac CT will show constrictive or restrictive pathology

Right and left heart catheterisation for invasive haemodynamics.

187
Q

What are the causes of constrictive pericardial disease?

A

Viral/ bacterial pericarditis, recurrent pericarditis, post surgery (CABG), TB, radiation

188
Q

What are the causes of restrictive pericardial disease?

A

Endomyocardial fibrosis, Loffler’s

-Secondary: = systemic: sarcoidosis, scleroderma, haemochromatosis

-Others: malignancy, radiotherapy, amyloidosis

189
Q

What is the treatment for pericardial disease?

A

Depends on underlying cause:

Constrictive = surgery = stripping pericardium

Restrictive = address underlying cause and treat with diuretics

Low output = look at transplantation

190
Q

What are the clinical signs of atrial septal defect?

A

Raised JVP
Pulmonary area thrill

Fixed split second heart sounds that do not change with respiration.
Pulmonary ejection systolic and mid diastolic flow murmurs with large left to right shunts
————————————-
Consider:
-Pumonary HTN: RV heave and loud P2 + cyanosis and clubbing (Eisenmenger’s: right to left shunt)
-CCF

191
Q

What are the types of atrial septal defect?

A

Primum associated with AVSD and cleft mitral valve (seen in down’s syndrome)

Secundum (commonest)

192
Q

What are the complications of an ASD?

A

Paradoxical embolus
Atrial arrhythmias
RV dilatation

193
Q

What are the investigations for an ASD?

A

ECG: RBBB +LAD (primum) or +RAD (secundum); AF

CXR: small aortic knuckle, pulmonary plethora and double heart border (enlarged RA)

TTE/TOE: site, size and shunt calculation; amenability to closure

Right heart catheter shunt calculation (not always necessary)

194
Q

What are the indications for closure of an ASD?

A

Symptomatic : paradoxical systemic embolism, breathlessness

Contraindication for closure:
-Severe pulmonary HTN and Eisenmenger’s syndrome

195
Q

What are the clinical signs of a VSD?

A

Thrill at the lower left sternal edge

Systolic murmur well localised at left sternal edge with no radiation
No Audible A2
——————————-

Loudness does not corelate with size

Extra points:
-other associated lesions: AR, PDA (10%), Fallot’s tetralogy and coarctation
-Pulmonary HTN (Eisenmenger’s - clubbing)
-Endocarditis

196
Q

What are the causes of VSD?

A

Congenital

Acquired (traumatic, post operative, post MI

197
Q

What is the investigation of VSD?

A

ECG: conduction defect: BBB

CXR: pulmonary plethora

TTE/TOE: site, size, shunt calculation and associated lesions

Cardiac catheterisation: consideration of closure

198
Q

What are the features of Fallot’s tetralogy?

A

Right ventricular hypertrophy

Overriding aorta

VSD

Pulmonary stenosis

199
Q

What are the clinical features of HOCM?

A

Jerky pulse character
Double apical impulse (palpable atrial and ventricular contraction)
Thrill at the lower left sternal edge

ESM at the lower left sternal edge that radiates throughout the precordium.

S4

Dynamic ESM accentuated by reducing LV volume (standing from squatting or straining)

May be associated MVP

May be features of friedreich’s ataxia or myotonic dystrophy

200
Q

What are the investigations for HOCM?

A

ECG: LVH with strain (deep TWI across precordial leads)

CXR: often normal

TTE: asymmetrical septal hypertrophy and systolic anterior motion of the anterior mitral leaflet across the LVOT due to misalignment of septal papillary muscle

Cardiac MR: identifies apical HCM better than TTE

Cardiac catheterisation: gradient accentuated by a ventricular ectopic or pharmacological stress,

Genetic tests: sarcomeric protein mutation

201
Q

What is the management of HOCM?

A

Asymptomatic:
-Avoidance of strenuous exercise, dehydration and vasodilators

Symptomatic and LVOT gradient >30mmHg
-B-blockers
-Pacemaker
-Alcohol septal ablation
-Surgical myomectomy

Rhythm disturbance/ high risk SCD
-ICD

Refractory:
-Cardiac transplant

Genetic counselling of first degree relatives (autosomal dominant inheritance)

202
Q

What is the prognosis in HOCM?

A

Annual mortality rate in adults is 2.5%

Poor prognosis factors:
-Young age at diagnosis
-Syncope
-FHx of sudden death
-Septal thickness >3cm

203
Q

What are the lung cancer complications to look for on examination?

A

Superior vena cava obstruction

Recurrent laryngeal nerve palsy

Horner’s sign and wasted small muscles of the hand (T1): Pancoast’s tumour

Endocrine: gynaecomastia (ectopic BHCG)

Neurological: Lambert eaton, peripheral neuropathy, proximal myopathy and paraneoplastic cerebellar degeneration

Dermatological: dermatomyositis (heliotrope rash on eyelids and purple papules on knuckles (Gottron’s papules)), and acanthosis nigricans

204
Q

What are the types of lung cancer?

A

Squamous 35%
Small 24%
Adeno 21%
Large 19%
Alveolar 1%

205
Q

What is the investigation of lung cancer?

A
  1. Diagnosis of mass
    -CXR
    -Volume acquisition CT thorax
  2. Determine cell type:
    -Induced sputum cytology
    -Bronchoscopy and biopsy or percutaneous needle (peripheral lesion; FEV1 >1L)
  3. Stage
    -CT, bronchoscopy, EBUS, mediastinoscopy, thoracoscopy, PET
  4. Lung function tests for operability assessment:
    -Pneumonectomy contraindicated if FEV1 <1.2L
  5. Complications
    -Mets, PTHrp, ACTH, SIADH
206
Q

What is the treatment for lung cancer?

A

NSCLC:
-Surgery: lobectomy (FEV1 >1.5L, peripheral lesion), pneumonectomy (FEV1 >2L, central lesion)
-Radiotherapy
-Chemotherapy

Palliative care:
-Dex and radiotherapy for brain mets
-SVCO: dex and radiotherapy or stent
-Radiotherapy for haemoptysis, bone pain and cough
-Chemical pleurodesis for effusion
-Opiates for pain and cough

207
Q

How do you determine between a lobectomy/ pneumonectomy?

A

Lobectomy: tracheal deviation to side of lobectomy, reduced breath sounds over side as hyperinflation occurs (this can reverse)

Pneumonectomy:
-Tracheal deviation towards site
-Reduced chest expansion over that side
-Dull to percussion
-Absent breath sounds

208
Q

What are the indications for lobectomy/ pneumonectomy?

A

NSCLC
Malignant nodules
Lung abscess, treated with either lobectomy or wedge resection
Localised bronchiectasis
TB
Lung trauma with significant damage to lung

209
Q

What are the clinical signs of CF?

A

Small stature, clubbed, tachypnoeic, sputum put (purulent ++)

Hyperinflated with reduced chest expansion

Course crackles and wheeze (bronchiectatic)

Portex reseroir (Portacath) under the skin or Hickman line/ scars for long term Abx plus PEG for malabsorption.

210
Q

What is the genetics of CF?

A

Incidence of 1/2500 live births
Autosomal recessive chromosome 7q
Gene encodes CFTR (Cl- channel)
Commonest and most severe mutation is the deletion delta F508 (70%)

211
Q

What is the investigation of CF?

A

Screened at birth: low immunoreactive trypsin (heel prick)

Sweat test: Na >60 mmol/L (false positive in hypothyroidism and Addison’s)

Genetic screening

212
Q

What is the treatment for CF?

A

Physiotherapy: postural drainage and active cycle breathing techniques

Prompt antibiotics for intercurrent infections

Pancrease and fat soluble vitamin supplements

Mucolytics (DNAse)

Immunisations

Double lung transplant (50% survival at 5 years)

Gene therapy is under development

213
Q

What is the prognosis in CF?

A

Median survival is 35 years but is rising

Poor prognosis if becomes infected with Burkholderia cepacia

214
Q

What are the signs of dystrophia myotonica?

A

Face:
-Myopathic facies: long, thin, expressionless
-Wasting of facial muscles and sternocleidomastoid
-Bilateral ptosis
-Frontal balding
-Dysarthria: due to myotonia of tongue and pharynx

Hands:
-Myotonia: ‘grip my hand, now let go’, ‘screw up your eyes, now open them’
-Wasting and weakness of distal muscles with areflexia
-Percussion myotonia: percuss thenar eminence and watch for involuntary thumb flexion

Additional signs:
-Cataracts, cardiomyopathy (pacemaker), diabetes (dip urine), testicular atrophy, dysphagia (ask about swallowing)

215
Q

What are the genetics of dystrophia myotonica?

A

DM1: expansion of CTG trinucleotide repeat sequence within DMPK gene chromosome 19

DM2: expansion of CCTG tetranucleotide repeat sequence within ZNF9 gene on chromosome 3

Genetic anticipation with DM1

Both DM1 and DM2 are autosomal dominant

216
Q

What are the investigations for dystrophia myotonica?

A

Clinical features

EMG: dive bomber potentials

Genetic testing

217
Q

What is the management for dystrophia myotonica?

A

Affected individuals die prematurely of respiratory and cardiac complications

Weakness is major problem - no treatment

Phenytoin may help myotonia

Advise against general anaesthetic (high risk of compromise)

218
Q

What are the causes of cerebellar syndrome?

A

PASTRIES

Paraneoplastic cerebellar syndrome
Alcoholic cerebellar degeneration
Sclerosis (MS)
Tumour (posterior fossa SOL)
Rare (Friedrich’s and ataxia telangiectasia)
Iatrogenic (phenytoin toxicity)
Endocrine (hypothyroidism)
Stroke (brain stem vascular event)

219
Q

What is the investigation of MS?

A

CSF: oligoclonal IgG bands

MRI: periventricular white matter plaques

Visual evoked potentials (VEPs): delayed velocity but normal amplitude (evidence of previous optic neuritis)

220
Q

What is the management of MS?

A

MDT: nurse, PT, OT, SW, doctor

Disease modifying treatment:
-IFb and glatiramer reduce relapse rate but dont affect progression
-Monoclonal antibody potentially reduced disease progression and accumulated disability (toxicity limits use)

Symptomatic treatments:
-Methylpred during acute phase shortens attack
-Anti-spasmodics e.g. baclofen
-Carbamazepine (for neuropathic pain)
-Laxatives and intermittent catheterisation/ oxybutynin for blow and bladder

221
Q

How is MS and pregnancy interlinked?

A

Reduced relapse rate during pregnancy

Increased risk of relapse in postpartum period

Safe for foetus (possibly reduced birth weight)

222
Q

What are the investigations for stroke?

A

Bloods: FBC, CRP/ESR (young CVA may be due to arthritis), glucose and renal function

ECG: AF or previous infarction

CXR: cardiomegaly or aspiration

CT head: infarct or bleed, territory

Consider ECHO, carotid doppler, MRI/A/V (dissection or venous sinus thrombosis in young patient), clotting screen (thrombophilia), vasculitis screen

223
Q

What is the bramford classification for stroke?

A

TACS:
-Hemiplegia (contralateral to lesion)
-Homonomous hemianopia (contralateral)
-Higher cortical dysfunction (e.g. dysphagia, dyspraxia and neglect)

PACS: 2/3 of the above

Lacunar (LACS)
-Pure hemi motor or sensory loss

224
Q

What are the features of lateral medullary syndrome?

A

Ipsilateral:
-Cerebellar signs
-Nystagmus (vertigo and vomiting)
-Horner syndrome
-Palatal paralysis and decreased gag reflex
-Loss of trigeminal pain and temperature sensation faces

Contralateral to lesion
-Loss of pain and temperature sensation body

225
Q

What are the common and uncommon causes of spastic legs?

A

Common:
-Multiple sclerosis
-Spinal cord compression/ cervical myelopathy
-Trauma
-Motor neurone disease (no sensory signs)

Other causes:
-Anterior spinal artery thrombosis: dissociated sensory loss with preservation of dorsal columns
-Syringomyelia (with typical upper limb signs)
-Hereditary spastic paraplegia: stiffness exceeds weakness, positive family history
-Subacute combined degeneration of the cord: absent reflexes with upgoing plantars
-Friedreich’s ataxia
-Parasagittal falx meningioma

226
Q

What are the lower limb myotomes?

A

L2/3 Hip flexion
L3/4 Knee extension (Knee jerk L3/4)
L4/5 Foot dorsi-flexion
L5/S1 Knee flexion, hip extension
S1/2 Foot plantar flexion (ankle jerk S1/2)

227
Q

What are the lower limb dermatomes?

A

L3 (knee)
L4 (to the floor medially)
S2,3,4 (keeps the faeces off the floor)

228
Q

What are the clinical signs of syringomyelia?

A

Weakness and wasting of small muscles of the hands

Loss of reflexes in the upper limbs

Dissociated sensory loss in upper limbs and chest: loss of pain and temperature (spinothalamic) with preservation of joint position and vibration sense (dorsal columns)

Scars from painless burns

Additional signs:
-Pyramidal weakness in lower limbs with upgoing (extensor) plantars
-Kyphoscoliosis is common
-Horner’s syndrome
-If syrinx extends into brain stem (syringobulbia) there may be cerebellar and lower cranial nerve signs

Signs may be asymmetrical

229
Q

In what order are structures affected in syringomyelia?

A

Syrinx expands ventrally affecting:

  1. Decussating spinothalamic neurones producing segmental pain and temperature loss at the level of the syrinx
  2. Anterior horn cells producing segmental lower motor neurone weakness at the level of the syrinx
  3. Corticospinal tract producing upper motor neurone weakness below the level of the syrinx

It usually spares the dorsal columns 4 (proprioception)

230
Q

What is the investigation for syringomyelia?

A

spinal MRI

231
Q

What are the upper limb myotomes?

A

C5/6 = Elbow flexion and supination
-Biceps and supinator jerks C5/6

C7/8 = Elbow extension
-Triceps jerk C7/8

T1 = finger adduction

232
Q

What are the 3 types of motor neurone disease?

A

Amyotrophic lateral sclerosis (50%): affecting the cortico-spinal tracts predominantly producing spastic paraparesis or tetraparesis

Progressive muscular atrophy (25%): affecting anterior horn cells predominantly producing wasting, fasciculation and weakness. Best prognosis

Progressive bulbar palsy (25%): affecting lower cranial nerves and suprabulbar nuclei producing speech and swallow problems. Worst prognosis.

233
Q

What are the investigations for MND?

A

Clinical diagnosis

EMG: fasciculation

MRI (brain and spine): excludes the main differential diagnoses of cervical cord compression and myelopathy and brain stem lesions

234
Q

What is the treatment for MND?

A

Supportive, e.g. PEG feeding and NIPPV

Multidisciplinary approach to care

Riluzole (glutamate antagonist): slows disease progression by an average of 3 months but does not improve function or quality of life and is costly

235
Q

What is the prognosis of NMD?

A

Most die within 3 years of diagnosis from bronchopneumonia and respiratory failure. Some disease variants may survive longer

Worst if elderly at onset, female and with bulbar involvement.

236
Q

What are the causes of generalised wasting of hand muscles?

A

Anterior horn cell:
-MND
-Syringomyelia
-Cervical cord compression
-Polio

Brachial plexus
-Cervical rib
-Pancoast’s tumour
-Trauma

Peripheral nerve
-Combined median and ulnar nerve lesions
-Peripheral neuropathy

Muscle
-Disuse atrophy, e.g. RA

237
Q

What are the causes of parkinsonism?

A

Idiopathic Parkinson’s disease

Parkinson plus syndromes:
-Multiple system atrophy (Shy-Drager)
-Progressive supranuclear palsy (Steele-Richardson-Olszewski)
-Corticobasal degeneration; unilateral Parkinsonian signs

Drug induced, particularly phenothiazines

Anoxic brain damage

Post-encephalitis

MPTP toxicity (‘frozen addict syndrome’)

238
Q

What is the treatment for Parkinson’s disease?

A

Please see book.

239
Q

What are the non-motor symptoms seen in Parkinson’s disease?

A

Anosmia
Cognition, mood, pain
Decreased sleep and REM sleep disorders
Autonomic dysfunction

240
Q

What are the clinical signs of hereditary sensory motor neuropathy?

A

Wasting of distal lower limb muscles with preservation of the thigh muscle bulk

Pes cavus (seen also in Friedreich’s ataxia)

Weakness of ankle dorsi-flexion and toe extension

Variable degree of stocking distribution sensory loss (usually mild)

Gait is high stepping (due to foot drop) and stamping (absent proprioception)

Wasting of hand muscles

Palpable lateral popliteal nerve

241
Q

What are the types and genetics of hereditary sensory motor neuropathy?

A

Commonest types are I (demyelinating) and II (axonal)

Autosomal dominant inheritance (test for PMP22 mutations in HSMN I)

HSMN is also known as Charcot-Marie-Tooth disease and peroneal muscular atrophy

242
Q

What are the predominantly sensory peripheral neuropathies?

A

DM
Alcohol
Drugs, e.g. isoniazid and vincristine
Vitamin deficiency, e.g. B12 and B1

243
Q

What are the causes of predominantly motor peripheral neuropathy?

A

GBS and botulism present acutely

Lead toxicity

Porphyria

HSMN

244
Q

What are the causes of mononeuritis multiplex?

A

DM

Connective tissue disease, e.g. SLE and RA

Vasculitis, e.g. polyarteritis nodosa and Churg-Strauss

Infection, e.g. HIV

Malignancy

245
Q

What are the clinical signs of Friedreich’s ataxia?

A

Young adult, wheelchair or ataxic gait

Pes Cavus

Bilateral cerebellar ataxia (ataxic hand shake + other arm signs, dysarthria, nystagmus)

Leg wasting with absent reflexes and bilateral upgoing plantars

Other signs:
-Kyphoscoliosis
-Optic atrophy (30%)
-High arched palate
-Sensorineural deafness (10%)
-Listen for murmur of HOCM
-Ask to dip urine (10% develop diabetes)

246
Q

What is the inheritance of Friedreich’s ataxia?

A

Usually autosomal recessive

Survival rarely exceeds 20 years from diagnosis

247
Q

What are the causes of extensor plantars with absent knee jerks?

A

Friedreich’s ataxia

Subacute combined degeneration of the cord

Motor neurone disease

Taboparesis

Conus medullaris lesions

Combined upper and lower pathology, e.g. cervical spondylosis with peripheral neuropathy

248
Q

How do you determine the level of the lesion in facial nerve palsy?

A

Pons: + VI palsy and long tract signs
-MS and stroke

Cerebellar-pontine angle: + V, VI, VIII and cerebellar signs
-Tumour, e.g. acoustic neuroma

Auditory/ facial canal: +VIII
-Cholesteatoma and abscess

Neck and face: +scars or parotid mass
-Tumour and trauma

249
Q

What are the causes of a VII nerve palsy?

A

Bell’s palsy (HSV-1 has been implicated)

Herpes zoster (Ramsay-Hunt syndrome)

Mononeuropathy due to diabetes, sarcoidosis or Lyme disease

Tumour/ trauma

MS/ Stroke

250
Q

What are the causes bilateral facial palsy?

A

Guillian-Barre
Sarcoidosis
Lyme disease
Myasthenia gravis
Bilateral Bell’s palsy

251
Q

What is the treatment for myasthenia gravis?

A

Acute:
-IV immunoglobulin or plasma pheresis (if severe)

Chronic:
-Acetylcholine esterase inhibitor, e.g. pyridostigmine
-Immunosuppression: steroids and azathioprine
-Thymectomy is beneficial even if the patient does not have a thymoma (usually young females)

252
Q

What are the causes of bilateral extra-ocular palsies?

A

Myasthenia gravis
Graves’ disease
Mitochondrial cytopathies, e.g. Kearns-Sayre syndrome
Miller-Fisher variant of Guillain-Barre syndrome
Cavernous sinus pathology

253
Q

What are the causes of bilateral ptosis?

A

Congenital
Senile
Myasthenia gravis
Myotonic dystrophy
Mitochondrial cytopathies, e.g. Kearns-Sayre syndrome
Bilateral Horner’s syndrome

254
Q

How do you differentiate common and inflammatory causes of mixed motor + sensory neuropathy?

A

Peripheral neuropathy = length dependent = glove and stocking and distal weakness
-Causes most likely: diabetes, alcohol, hypothyroid

If proximal weakness +/- asymmetry in sensation think inflammatory
-Acute = GBS, Chronic = CIDP

255
Q

What are the clinical features of tuberous sclerosis?

A

Skin changes
-Facial (perinasal: butterfly distribution) adenoma sebaceum (angiofibromata)
-Periungual fibromas (hands and feet)
-Shagreen patch: roughened, leathery skin over the lumber region
-Ash leaf macules: depigmented macules on trunk (fluoresce with UV/ Wood’s light)

Respiratory: Cystic lung disease

Abdominal:
-Renal enlargement: polycystic kidneys and/or renal angiomyolipmata
-Transplanted kidney
-Dialysis fistulae

Eyes: Retinal phakomas (dense white patches in 50%)

CNS:
-Mental retardation
-Seizures
-Signs of antiepileptic treatment, e.g. phenytoin: gum hypertrophy and hirsuitism

256
Q

What are the genetics of tuberous sclerosis?

A

Autosomal dominant (TSC1 on chromosome 9, TSC2 on chromosome 16) with variable penetrance

257
Q

What are the renal manifestations of tuberous sclerosis?

A

Renal angiomyolipomas, renal cysts, RCC

The genes for tuberous sclerosis and ADPKD are contiguous on chromosome 16, hence some mutations lead to both conditions

Renal failure may result from cystic disease, or parenchymal destruction by massive angiomyolipmas

258
Q

What is the investigation for tuberous sclerosis?

A

Skull films: ‘railroad track’ calcification

CT/MRI head: tuberous masses in cerebral cortex (often calcify)

Echo and abdominal ultrasound: hamartomas and renal cysts

259
Q

What are the clinical signs of neurofibromatosis?

A

Cutaneous neurofibromas: two or more

Cafe au lait patches: six or more, >15mm diameter in adults

Axillary freckling

Lisch nodules: melanocytic hamartomas of the iris

Blood pressure: hypertension (associated with renal artery stenosis and phaeochromocytoma)

Examine chest: fine crackles (honeycomb lung and fibrosis)

Neuropathy with enlarged palpable nerves

Visual acuity: optic glioma/ compression

260
Q

What are the genetics of neurofibromatosis?

A

Inheritance is autosomal dominant

Type I (chromosome 17) is the classical peripheral form

Type II (chromosome 22) is central and presents with bilateral acoustic neuromas and sensorineural deafness rather than skin lesions

261
Q

What are the associations of neurofibromatosis?

A

Phaeochromocytoma (2%)
Renal artery stenosis (2%)

262
Q

What are the complications for neurofibromatosis?

A

Epilepsy

Sarcomatous change (5%)

Scoliosis (5%)

Mental retardation

263
Q

What are the causes of enlarged nerves and peripheral neuropathy?

A

NEUROFIBROMATOSIS
Leprosy
Amyloidosis
Acromegaly
Refsum’s disease

264
Q

What are the features of Horner’s pupil?

A

PEAS

Ptosis (levator palpebrae is partially supplied by sympathetic fibres)

Enopthalmos (sunken eye)

Anhydrosis (sympathetic fibres control sweating)

May also have flushed/ warm skin ipsilaterally to the Horner’s pupil due to loss of vasomotor sympathetic tone to the face

Look at the ipsilateral side of the neck for scars (central lines, carotid endarterectomy or aneurysms) and tumours (Pancoast’s)

265
Q

What are the causes of Horner’s syndrome?

A

Brain stem: stroke (Wallenberg’s), MS

Spinal cord: syrinx

Neck: aneurysm, Trauma, Pancoast’s

266
Q

What are the signs of Holmes-Adie (myotonic pupil)

A

Moderately dilater pupil that has a poor response to light and a sluggish response to accommodation

Absent or diminished reflexes indicated Holmes-Adie syndrome

267
Q

What are the signs of Argyle-Robertson pupil?

A

Small, irregular pupil

Accommodates but doesnt react to light

Offer to look for sensory ataxia (tabes dorsalis)

268
Q

What are the causes of an oculomotor (III) nerve palsy?

A

If the pupil is normal consider medical causes of III palsy

Medical causes (MMMMM)
-Mononeuritis multiplex, e.g. DM
-Midbrain infarction: Weber’s
-Midbrain demyelination (MS)
-Migraine

Surgical causes (CCCC)
-Communicating artery aneurysm (posterior)
-Cavernous sinus pathology: thrombosis, tumour or fistula (IV, V and VI may also be affected)
-Cerebral uncus herniation

269
Q

What are the causes of optic atrophy?

A

On examining the fundus
-Glaucoma (cupping of the disc)
-Retinitis pigmentosa
-Central retinal artery occlusion
-Frontal brain tumour: Foster-Kennedy Syndrome

At a glance from end of bed:
-Cerebellar signs, e.g. nystagmus: multiple sclerosis (INO), Friedreich’s Ataxia (scoliosis and pes cavus)

270
Q

What are the clinical signs of age-related macular degeneration?

A

Wet (neovascular and exudative) or dry (non-neovascular, atrophic and non-exudative)

Macular changes:
-Drusen (extracellular material)
-Geographic atrophy
-Fibrosis
-Neovascularisation (wet)

271
Q

What are the risk factors for age-related macular degeneration?

A

Age, white race, family history and smoking

Wet AMD have a higher incidence of coronary heart disease and stroke

272
Q

What is the treatment for age-related macular degeneration?

A

Ophthalmology referral

Wet AMD may be treated by intravitreal injections of anti-VEGF (though can increase cerebrovascular and cardiovascular risk)

273
Q

What is the prognosis of age related macular degeneration?

A

Majority of patients progress to blindness in the affected eye within 2 years of diagnosis

274
Q

What are the clinical signs of retinitis pigmentosa?

A

White stick and braille book (registered blind)
Reduced peripheral field of vision (tunnel vision)

Fundoscopy:
-Peripheral retina ‘ bone spicule pigmentation which follows the veins and spares macula
-Optic atrophy due to neuronal loss (consecutive)
-Associated cataract (loss red reflex)

At a glance features can help make diagnosis:
-Ataxia: Friedreich’s ataxia, abetalipoproteinaemia, Refsum’s disease, Kearns-Sayre syndrome
-Deafness: Refsum’s disease, Kearn’s Sayre syndrome, Usher’s disease
-Ophthalmoplegia/ ptosis and permanent pacemaker: Kearn’s-Sayre syndrome
-Polydactyly: Laurence-Moon-Biedl syndrome
-Icthyosis: Refsum’s disease

275
Q

What are the causes of retinitis pigmentosa (by itself not as part of syndrome)?

A

Congenital: often autosomal recessive inheritance, 15% due to rhodopsin pigment mutations
-Can be AD recessive or x-linked

Acquired: post-inflammatory retinitis

276
Q

What is the prognosis of retinitis pigmentosa?

A

Progressive loss of vision due to retinal degeneration. Begins with reduced night vision

Most are registered blind at 40 years, with central visual loss in the seventh decade

No treatment although vitamin A may slow disease progression

277
Q

What are the causes of tunnel vision?

A

Papilloedema
Glaucoma
Choroidoretinitis
Migraine
Hysteria

278
Q
A

PACES (9 decks)

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