Cases for Paces

Question 1

What are the peripheral signs of chronic liver disease?

Answer 1

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)

Question 2

What are the causes of hepatomegaly?

Answer 2

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

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

Question 3

What investigations do you perform in chronic liver disease?

Answer 3

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

Question 4

What are the complications of cirrhosis?

Answer 4

Variceal haemorrhage due to portal hypertension

Hepatic encephalopathy

SBP

HCC

Hepatorenal syndrome

Hepatopulmonary syndrome

Question 5

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

Answer 5

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

Question 6

What are the causes of ascites?

Answer 6

Cirrhosis (80%)
Carcinomatosis
CCF

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

Question 7

What is the treatment of ascites in cirrhotics

Answer 7

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

Question 8

What are the causes of palmar erythema?

Answer 8

Cirrhosis
Hyperthyroidism
Rheumatoid arthritis
Pregnancy
Polycytheamia

Question 9

What are the risk factors for CAD?

Answer 9

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

Question 10

What are the driving restrictions post MI

Answer 10

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

Question 11

What factors are included in TIMI score

Answer 11

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

Question 12

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

Answer 12

Meningitis: immunosuppressed, close meningitis contact and foreign travel

SAH: hypertension

Migraine: stress, tiredness, chocolate, red wine

Question 13

What are the features of migraine?

Answer 13

POUNDing

Pulsating
duration of 4-72 hOurs
Unilateral
Nausea
Disabling

May have aura or focal neurological deficits in 30%

Question 14

What are the precipitating factors for DKA?

Answer 14

4 Is
Insulin forgotten
Infection
Infarction
Injury

Question 15

Station 5 examination: Chest pain

Answer 15

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

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

Swollen ankles

BP

Question 16

Station 5 exam headache ?CNS infection

Answer 16

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

Question 17

Station 5 exam DVT

Answer 17

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

Question 18

Station 5 exam Diabetes

Answer 18

BP and pulse

eyes and fundoscopy

cardiovascular exam

Dip urine etc

Question 19

Station 5 anaemia exam

Answer 19

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)

Question 20

Station 5 exam lung cancer exam

Answer 20

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

Question 21

Station 5 exam: persistant fever

Answer 21

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

Question 22

What are the DVLA rules for syncope?

Answer 22

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

Question 23

Station 5 exam AF

Answer 23

Pulse and BP
Tremor
Thyroid eye disease
Goitre

Cardio exam
Check for overload

Neurological exam
Visual fields

Question 24

What are the contents of the CHADSVASC score?

Answer 24

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

Question 25

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

Answer 25

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

Question 26

What are the contents of the HASBLED score?

Answer 26

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

Question 27

What is the differential diagnosis in Crohn's disease?

Answer 27

Yersinia TB Lymphoma UC

Question 28

What is the differential diagnosis in UC?

Answer 28

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

Question 29

What is the medical management of Crohn's disease

Answer 29

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

Question 30

What is the medical management of UC?

Answer 30

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

Question 31

What are the non medical management options in IBD?

Answer 31

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

Question 32

What are the complications in Crohn's disease?

Answer 32

Malabsorption Anaemia Abscess Fistula Intestinal obstruction

Question 33

What are the complications in ulcerative colitis?

Answer 33

Anaemia Toxic dilatation Perforation Colonic carcinoma

Question 34

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

Answer 34

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

Question 35

What are the extra-intestinal manifestations of IBD?

Answer 35

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

Question 36

What are the causes of erythema nodosum?

Answer 36

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

Question 37

What are the findings of hypertensive retinopathy?

Answer 37

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

Question 38

What are the causes of hypertension?

Answer 38

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

Question 39

What are the investigations for hypertension?

Answer 39

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

Question 40

What are the definitions for hypertension?

Answer 40

Please see NICE sheet

Question 41

What are some history factors to consider in rashes?

Answer 41

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)

Question 42

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

Answer 42

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

Question 43

What are the treatments for psoriasis?

Answer 43

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

Question 44

What is the life threatening complication of psoriasis?

Answer 44

Erythroderma

Question 45

What are the causes of nail pitting?

Answer 45

Psoriasis Lichen planus Alopecia areata Fungal infections

Question 46

What are the causes of the koebner phenomenon?

Answer 46

Psoriasis Lichen planus Viral warts Vitiligo Sarcoid

Question 47

What are the treatments for eczema?

Answer 47

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

Question 48

Station 5 history leg ulcers

Answer 48

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

Question 49

Station 5 exam leg ulcers?

Answer 49

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)

Question 50

What are the causes of leg ulcers?

Answer 50

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

Question 51

What are the differentials for "diabetes and the skin"?

Answer 51

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

Question 52

What are the treatments for necrobiosis lipoidica diabeticorum?

Answer 52

Topical steroid and support bandaging Tight glycaemic control does not help

Question 53

What are the causes of xanthomata?

Answer 53

Hypercholesterolaemia: tendon xanthomata, xanthelasma and corneal arcus Hypertriglyceridaemia: eruptive xanthomata and lipaemia retinalis Other causes of secondary hyperlipidaemia: -Hypothyroidism -Nephrotic syndrome -Alcohol -Cholestasis

Question 54

What are the causes of gynaecomastia?

Answer 54

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

Question 55

What are the autoantibodies in PBC?

Answer 55

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

Question 56

What are the autoantibodies in PSC?

Answer 56

ANA, anti-smooth muscle may be positive

Question 57

What are the autoantibodies in autoimmune hepatitis?

Answer 57

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

Question 58

What are the complications of alcohol abuse?

Answer 58

Cardiac: Dilated cardiomyopathy and HTN GI: Pancreatitis, peptic ulceration, upper GI cancer Neuro: Cerebellar atrophy, polyneuropathy, Wernicke's encephalopathy, Korsakoff's syndrome

Question 59

What are the clinical signs of haemochromatosis?

Answer 59

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)

Question 60

What is the inheritance of haemochromatosis?

Answer 60

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

Question 61

What is the investigation of haemochromatosis?

Answer 61

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)

Question 62

What is the treatment of haemochromatosis?

Answer 62

Regular venesection (1unit/week) until iron deficient, then 1 unit 3-4 times per year Avoid alcohol Surveillance for HCC

Question 63

What is the prognosis of haemochromatosis?

Answer 63

200 x increased risk of HCC if cirrhotic Reduced life expectancy if cirrhotic Normal life expectancy without cirrhosis + effective treatment

Question 64

What is the triad of Henoch-Schonlein Purpura?

Answer 64

Purpuric rash: usually buttocks and legs Arthritis Abdominal Pain

Question 65

What are the precipitants of Henoch-Schonlein Purpura?

Answer 65

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

Question 66

What is the prognosis in Breslow thickness?

Answer 66

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

Question 67

What are the features of pseudoxanthoma elasticum?

Answer 67

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

Question 68

What is the inheritance of pseudoxanthoma elasticum?

Answer 68

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

Question 69

Station 5 exam Ehlers-Danlos

Answer 69

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

Question 70

What are the rheumatoid arthritis hand signs?

Answer 70

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)

Question 71

What are the systemic manifestations of RA?

Answer 71

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)

Question 72

What is the diagnostic criteria for rheumatoid arthritis?

Answer 72

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

Question 73

What is the prognosis of rheumatoid arthritis?

Answer 73

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

Question 74

Station 5 exam SLE

Answer 74

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

Question 75

What is the diagnostic criteria for SLE?

Answer 75

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

Question 76

What is the treatment for SLE?

Answer 76

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

Question 77

What are the side effects of cyclophosphamide?

Answer 77

HHIT Haematological and Haemorrhagic cystitis (mesna) Infertility Teratogenicity

Question 78

Station 5 examination: Systemic sclerosis?

Answer 78

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)

Question 79

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

Answer 79

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

Question 80

What are the features of CREST syndrome?

Answer 80

Calcinosis Raynaud's phenomenon Esophageal dysmotility Sclerodactyly Telangiectasia

Question 81

What are the investigations for systemic sclerosis?

Answer 81

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

Question 82

What is the management of systemic sclerosis?

Answer 82

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

Question 83

What is the prognosis for diffuse systemic sclerosis?

Answer 83

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

Question 84

What are the complications of ankylosing spondylosis?

Answer 84

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

Question 85

Station 5 exam: Marfan's syndrome

Answer 85

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

Question 86

What are the genetics of marfan's syndrome?

Answer 86

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

Question 87

What is the management of marfan's syndrome?

Answer 87

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

Question 88

What are the stages and features of diabetic retinopathy?

Answer 88

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)

Question 89

What are the indications for photocoagulation therapy in diabetic retinopathy?

Answer 89

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.

Question 90

What are the complications of proliferative diabetic retinopathy?

Answer 90

Vitreous haemorrhage (may require vitrectomy) Traction retinal detachment Neovascular glaucoma due to rubeosis iridis

Question 91

What are the causes of glaucoma?

Answer 91

Congenital (pre-senile): rubella, Turner's syndrome, Dystrophia myotonica (bilateral ptosis) Acquired: age (usually bilateral), diabetes, drugs (steroids), radiation exposure, trauma and storage disorders

Question 92

What is the treatment of glaucoma?

Answer 92

Phacoemulsification with prosthetic lens implantation Yttrium aluminium garnet (YAG) laser capsulotomy

Question 93

Station 5 exam: Thyroid

Answer 93

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

Question 94

Describe the progression of eye signs in Graves' disease

Answer 94

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

Question 95

What is the management of Graves' disease?

Answer 95

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

Question 96

What drugs are associated with hypothyroidism?

Answer 96

Amiodarone Lithium Anti-thyroid drugs

Question 97

What illnesses are associated with hypothyroidism?

Answer 97

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

Question 98

Station 5 exam hypothyroidism

Answer 98

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

Question 99

What are the investigations for hypothyroidism?

Answer 99

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

Question 100

What are the causes of hypothyroidism?

Answer 100

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)

Question 101

What are the complications to look for in acromegaly?

Answer 101

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)

Question 102

What are the investigations in acromegaly?

Answer 102

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

Question 103

What is the management of acromegaly?

Answer 103

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

Question 104

What are the features of MEN 1?

Answer 104

Parathyroid hyperplasia (hypercalcaemia) Pituitary tumours Pancreatic tumours (gastrinomas) Autosomal dominant, chromosome 11

Question 105

What are the causes of macroglossia?

Answer 105

Acromegaly Amyloidosis Hypothyroidism Down's syndrome

Question 106

What are the associations of acanthosis nigricans?

Answer 106

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

Question 107

What are the complications of cushing's disease?

Answer 107

HTN DM Osteoporosis Cellulitis Proximal myopathy (stand from sitting)

Question 108

What is the investigations for Cushing's?

Answer 108

1. Confirm high cortisol -24 hour urine collection -Low dose (for 48hrs) or overnight dexamethasone suppression test (suppressed cortisol: alcohol/ depression/ obesity ("pseudocushing's") 2. 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

Question 109

What it the treatment for Cushing's disease?

Answer 109

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

Question 110

What is the prognosis of untreated Cushing's syndrome?

Answer 110

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

Question 111

What are the causes of proximal myopathy?

Answer 111

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

Question 112

What are the causes of addison's ?

Answer 112

80% due to autoimmune disease Adrenal mets Adrenal TB Amyloidosis Adrenalectomy Waterhouse-Friederichsen syndrome (meningococcal sepsis and adrenal infarction)

Question 113

What are the investigations for addison's disease?

Answer 113

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

Question 114

What is the treatment for Addison's disease?

Answer 114

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

Question 115

What are the investigations for sickle cell?

Answer 115

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

Question 116

What is the treatment for sickle cell anaemia?

Answer 116

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

Question 117

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

Answer 117

Lymphadenopathy - Haematological and infective Stigmata of chronic liver disease - Cirrhosis with portal hypertension Splinter haemorrhages, murmur etc - Bacterial endocarditis Rheumatoid hands - Felty's syndrome

Question 118

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

Answer 118

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

Question 119

What are the indications for splenectomy?

Answer 119

Rupture (trauma) Haematological (ITP and hereditary spherocytosis)

Question 120

What must all patients have post splenectomy?

Answer 120

Vaccination (ideally 2/52 prior to protect against encapsulated organisms) -Pneumococcus -Meningococcus -Haemophilus influenzae Prophylactic penicillin: (lifelong) Medic alert bracelet

Question 121

What are the causes of unilateral kidney enlargement?

Answer 121

Polycystic kidney disease (other kidney not palpable or contralateral nephrectomy - flank scar) Renal cell carcinoma Simple cyts Hydronephrosis (due to ureteric obstruction)

Question 122

What are the causes of bilateral kidney enlargement?

Answer 122

Polycystic kidney disease Bilateral renal cell carcinoma (5%) Bilateral hydronephrosis Tuberous sclerosis (renal angiomyolipomata and cysts) Amyloidosis

Question 123

What are the genetics of autosomal dominant polycystic kidney disease?

Answer 123

Prevalence 1:1000 Genetics: 85% ADPKD1 chromosome 16; 15% ADPKD2 chromosome 4

Question 124

What is the other organ involvement in ADPKD?

Answer 124

Hepatic cysts and hepatomegaly (rarely liver failure) Intracranial berry aneurysms (neurological sequelae/ craniotomy scar?) Mitral valve prolapse

Question 125

What is the treatment for ADPKD?

Answer 125

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.

Question 126

What are the top 3 reasons for liver transplantation?

Answer 126

Cirrhosis Acute hepatic failure: hep A and B, paracetamol overdose Hepatic malignancy (hepatocellular carcinoma)

Question 127

What is the success of liver transplantation?

Answer 127

80% 1 year survival 70% 5 year survival

Question 128

What are the causes of gum hypertrophy?

Answer 128

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

Question 129

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

Answer 129

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

Question 130

What are the top three causes of renal transplantation?

Answer 130

Glomerulonephritis Diabetic nephropathy Polycystic kidney disease

Question 131

What are the post transplant problems in renal patients?

Answer 131

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

Question 132

What is the success of renal transplants?

Answer 132

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

Question 133

What are the investigations for pulmonary fibrosis?

Answer 133

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%)

Question 134

What is the treatment for pulmonary fibrosis?

Answer 134

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

Question 135

What is the prognosis for pulmonary fibrosis?

Answer 135

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

Question 136

What are the causes of basal fibrosis?

Answer 136

UIP Asbestosis Connective tissue diseases Aspiration RASCO rheumatoid arthritis asbestosis scleroderma cryptogenic fibrosing alveolitis other (drugs, e.g. busulphan, bleomycin, nitrofurantoin, hydralazine, methotrexate, amiodarone)

Question 137

What are the causes of upper lobe fibrosis?

Answer 137

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

Question 138

What are the investigations for bronchiectasis?

Answer 138

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

Question 139

What are the causes of bronchiectasis?

Answer 139

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

Question 140

What is the treatment for bronchiectasis?

Answer 140

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

Question 141

What are the complications of bronchiectasis?

Answer 141

Cor pulmonale (Secondary) amyloidosis (dip urine for protein) Massive haemoptysis (mycotic aneurysm)

Question 142

What are the features of aortic stenosis?

Answer 142

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

Question 143

What is the differential diagnosis for aortic stenosis?

Answer 143

HOCM VSD Aortic sclerosis Aortic flow: pregnancy or anaemia MR

Question 144

What are the causes of aortic stenosis?

Answer 144

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

Question 145

What are the associations of aortic stenosis?

Answer 145

Coarctation and bicuspid aortic valve Angiodysplasia

Question 146

What is the prognosis of aortic stenosis based on symptoms?

Answer 146

Angina = 50% mortality at 5 years Syncope = 50% mortality at 3 years Breathlessness = 50% mortality at 2 years

Question 147

What is the management of aortic stenosis?

Answer 147

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

Question 148

What is Duke's criteria?

Answer 148

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

Question 149

Who has antibiotic prophylaxis for IE?

Answer 149

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

Question 150

What are the features of aortic incompetence?

Answer 150

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

Question 151

What are the causes of aortic incompetence?

Answer 151

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)

Question 152

What are the causes of a collapsing pulse?

Answer 152

Aortic incompetence Pregnancy PDA Paget's disease Anaemia Thyrotoxicosis

Question 153

What is the management of aortic incompetence?

Answer 153

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%

Question 154

What are the examination findings for mitral stenosis?

Answer 154

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)

Question 155

What are the causes of mitral stenosis?

Answer 155

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

Question 156

What is the differential for mitral stenosis?

Answer 156

Left atrial myxoma Austin-Flint Murmur

Question 157

What are the investigations for mitral stenosis?

Answer 157

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

Question 158

What is the management of mitral stenosis?

Answer 158

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

Question 159

What is the prognosis of mitral regurgitation?

Answer 159

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

Question 160

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

Answer 160

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

Question 161

What are the causes of mitral incompetence?

Answer 161

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)

Question 162

What are the investigations for mitral incompetence?

Answer 162

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

Question 163

What is the management of mitral regurgitation?

Answer 163

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

Question 164

What is the prognosis of mitral incompetence?

Answer 164

Often asymptomatic for >10 years Symptomatic - 25% mortality at 5 years

Question 165

What are the indications for surgery in mitral incompetence?

Answer 165

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

Question 166

What are the clinical signs of tricuspid incompetence?

Answer 166

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

Question 167

What are the causes of tricuspid regurgitation?

Answer 167

Congenital: Ebstein's anomaly (atrialization of the right ventricle and TR) Acquired: -Acute: infective endocarditis (IVDU) -Chronic: functional (commonest), rheumatic and carcinoid syndrome

Question 168

What is the investigation for tricuspid regurgitation?

Answer 168

ECG: p-pulmonale (large, peaked) and RVH CXR: double right heart border (enlarged right atrium) TTE: TR jet, RV dilatation

Question 169

What is the management of tricuspid regurgitation?

Answer 169

Medical: diuretics, B-blockers, ACE inhibitors and support stockings for oedma Surgical: valve repair annuloplasty if medical treatment fails

Question 170

What are the clinical signs of old TB?

Answer 170

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

Question 171

What are the TB drugs and their side effects?

Answer 171

Isoniazid - Peripheral neuropathy (Rx Pyridoxine) and hepatitis Rifampicin - Hepatitis and increased contraceptive pill metabolism Ethambutol - Retro-bulbar neuritis and hepatitis Pyrazinamide - Hepatitis

Question 172

What are the causes of apical fibrosis?

Answer 172

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

Question 173

What are the clinical signs of a lobectomy?

Answer 173

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.

Question 174

What are the clinical signs of a pneumonectomy?

Answer 174

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.

Question 175

What are the indications for a single lung transplant?

Answer 175

Dry lung conditions: -COPD, pulmonary fibrosis

Question 176

What are the indications for a double lung transplant?

Answer 176

Wet lung conditions: -CF, bronchiectasis, pulmonary HTN

Question 177

What is the surgical management of COPD?

Answer 177

(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

Question 178

What are the inclusion criteria for LTOT in COPD?

Answer 178

Non smoker PaO2 <7.3 on air PaO2 <8 if cor pulmonale (improves average survival by 9 months)

Question 179

What are the clinical signs of pulmonary stenosis?

Answer 179

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

Question 180

What is the management of pulmonary stenosis?

Answer 180

Pulmonary valvotomy - if gradient >70mmHg or there is RV failure Percutaneous pulmonary valve implantation (PPVI) Surgical repair/ replacement

Question 181

What are the complications of a metallic heart valve?

Answer 181

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.

Question 182

What are the primary prevention indications for an ICD?

Answer 182

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

Question 183

What are the secondary prevention indications for an ICD?

Answer 183

Cardiac arrest due to VT or VF OR Haemodynamically compromising VT OR VT with LVEF <35% (not NHYA IV)

Question 184

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

Answer 184

LVEF <35% NYHA II-IV on optimal medical therapy Sinus rhythm and QRSd >150 milliseconds (if LBBB morphology may be >120 miliseconds)

Question 185

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

Answer 185

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

Question 186

What investigation finding differentiate constrictive and restrictive pericardial disease?

Answer 186

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.

Question 187

What are the causes of constrictive pericardial disease?

Answer 187

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

Question 188

What are the causes of restrictive pericardial disease?

Answer 188

Endomyocardial fibrosis, Loffler's -Secondary: = systemic: sarcoidosis, scleroderma, haemochromatosis -Others: malignancy, radiotherapy, amyloidosis

Question 189

What is the treatment for pericardial disease?

Answer 189

Depends on underlying cause: Constrictive = surgery = stripping pericardium Restrictive = address underlying cause and treat with diuretics Low output = look at transplantation

Question 190

What are the clinical signs of atrial septal defect?

Answer 190

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

Question 191

What are the types of atrial septal defect?

Answer 191

Primum associated with AVSD and cleft mitral valve (seen in down's syndrome) Secundum (commonest)

Question 192

What are the complications of an ASD?

Answer 192

Paradoxical embolus Atrial arrhythmias RV dilatation

Question 193

What are the investigations for an ASD?

Answer 193

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)

Question 194

What are the indications for closure of an ASD?

Answer 194

Symptomatic : paradoxical systemic embolism, breathlessness Significant shunt: Qp:Qs>1.5:1, RV dilatation -------------------- Contraindication for closure: -Severe pulmonary HTN and Eisenmenger's syndrome

Question 195

What are the clinical signs of a VSD?

Answer 195

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 If Eisenmenger's develops the murmur often disappears as the gradient diminishes. -------------------------------------- Extra points: -other associated lesions: AR, PDA (10%), Fallot's tetralogy and coarctation -Pulmonary HTN (Eisenmenger's - clubbing) -Endocarditis

Question 196

What are the causes of VSD?

Answer 196

Congenital Acquired (traumatic, post operative, post MI

Question 197

What is the investigation of VSD?

Answer 197

ECG: conduction defect: BBB CXR: pulmonary plethora TTE/TOE: site, size, shunt calculation and associated lesions Cardiac catheterisation: consideration of closure

Question 198

What are the features of Fallot's tetralogy?

Answer 198

Right ventricular hypertrophy Overriding aorta VSD Pulmonary stenosis

Question 199

What are the clinical features of HOCM?

Answer 199

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

Question 200

What are the investigations for HOCM?

Answer 200

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

Question 201

What is the management of HOCM?

Answer 201

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)

Question 202

What is the prognosis in HOCM?

Answer 202

Annual mortality rate in adults is 2.5% Poor prognosis factors: -Young age at diagnosis -Syncope -FHx of sudden death -Septal thickness >3cm

Question 203

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

Answer 203

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

Question 204

What are the types of lung cancer?

Answer 204

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

Question 205

What is the investigation of lung cancer?

Answer 205

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

Question 206

What is the treatment for lung cancer?

Answer 206

NSCLC: -Surgery: lobectomy (FEV1 >1.5L, peripheral lesion), pneumonectomy (FEV1 >2L, central lesion) -Radiotherapy -Chemotherapy SCLC: Chemo (benefit with 6 courses) -------------------------- 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

Question 207

How do you determine between a lobectomy/ pneumonectomy?

Answer 207

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

Question 208

What are the indications for lobectomy/ pneumonectomy?

Answer 208

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

Question 209

What are the clinical signs of CF?

Answer 209

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.

Question 210

What is the genetics of CF?

Answer 210

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%)

Question 211

What is the investigation of CF?

Answer 211

Screened at birth: low immunoreactive trypsin (heel prick) Sweat test: Na >60 mmol/L (false positive in hypothyroidism and Addison's) Genetic screening

Question 212

What is the treatment for CF?

Answer 212

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

Question 213

What is the prognosis in CF?

Answer 213

Median survival is 35 years but is rising Poor prognosis if becomes infected with Burkholderia cepacia

Question 214

What are the signs of dystrophia myotonica?

Answer 214

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)

Question 215

What are the genetics of dystrophia myotonica?

Answer 215

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

Question 216

What are the investigations for dystrophia myotonica?

Answer 216

Clinical features EMG: dive bomber potentials Genetic testing

Question 217

What is the management for dystrophia myotonica?

Answer 217

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)

Question 218

What are the causes of cerebellar syndrome?

Answer 218

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)

Question 219

What is the investigation of MS?

Answer 219

CSF: oligoclonal IgG bands MRI: periventricular white matter plaques Visual evoked potentials (VEPs): delayed velocity but normal amplitude (evidence of previous optic neuritis)

Question 220

What is the management of MS?

Answer 220

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

Question 221

How is MS and pregnancy interlinked?

Answer 221

Reduced relapse rate during pregnancy Increased risk of relapse in postpartum period Safe for foetus (possibly reduced birth weight)

Question 222

What are the investigations for stroke?

Answer 222

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

Question 223

What is the bramford classification for stroke?

Answer 223

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

Question 224

What are the features of lateral medullary syndrome?

Answer 224

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

Question 225

What are the common and uncommon causes of spastic legs?

Answer 225

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

Question 226

What are the lower limb myotomes?

Answer 226

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)

Question 227

What are the lower limb dermatomes?

Answer 227

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

Question 228

What are the clinical signs of syringomyelia?

Answer 228

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 Charcot joints: elbow and shoulder ----------------------------------------------------------- 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

Question 229

In what order are structures affected in syringomyelia?

Answer 229

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)

Question 230

What is the investigation for syringomyelia?

Answer 230

spinal MRI

Question 231

What are the upper limb myotomes?

Answer 231

C5/6 = Elbow flexion and supination -Biceps and supinator jerks C5/6 C7/8 = Elbow extension -Triceps jerk C7/8 T1 = finger adduction

Question 232

What are the 3 types of motor neurone disease?

Answer 232

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.

Question 233

What are the investigations for MND?

Answer 233

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

Question 234

What is the treatment for MND?

Answer 234

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

Question 235

What is the prognosis of NMD?

Answer 235

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.

Question 236

What are the causes of generalised wasting of hand muscles?

Answer 236

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

Question 237

What are the causes of parkinsonism?

Answer 237

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')

Question 238

What is the treatment for Parkinson's disease?

Answer 238

Please see book.

Question 239

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

Answer 239

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

Question 240

What are the clinical signs of hereditary sensory motor neuropathy?

Answer 240

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

Question 241

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

Answer 241

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

Question 242

What are the predominantly sensory peripheral neuropathies?

Answer 242

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

Question 243

What are the causes of predominantly motor peripheral neuropathy?

Answer 243

GBS and botulism present acutely Lead toxicity Porphyria HSMN

Question 244

What are the causes of mononeuritis multiplex?

Answer 244

DM Connective tissue disease, e.g. SLE and RA Vasculitis, e.g. polyarteritis nodosa and Churg-Strauss Infection, e.g. HIV Malignancy

Question 245

What are the clinical signs of Friedreich's ataxia?

Answer 245

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 Posterior column signs (loss of vibration and joint position sense) ----------------------------------------------- Other signs: -Kyphoscoliosis -Optic atrophy (30%) -High arched palate -Sensorineural deafness (10%) -Listen for murmur of HOCM -Ask to dip urine (10% develop diabetes)

Question 246

What is the inheritance of Friedreich's ataxia?

Answer 246

Usually autosomal recessive Survival rarely exceeds 20 years from diagnosis

Question 247

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

Answer 247

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

Question 248

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

Answer 248

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

Question 249

What are the causes of a VII nerve palsy?

Answer 249

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

Question 250

What are the causes bilateral facial palsy?

Answer 250

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

Question 251

What is the treatment for myasthenia gravis?

Answer 251

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)

Question 252

What are the causes of bilateral extra-ocular palsies?

Answer 252

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

Question 253

What are the causes of bilateral ptosis?

Answer 253

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

Question 254

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

Answer 254

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

Question 255

What are the clinical features of tuberous sclerosis?

Answer 255

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

Question 256

What are the genetics of tuberous sclerosis?

Answer 256

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

Question 257

What are the renal manifestations of tuberous sclerosis?

Answer 257

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

Question 258

What is the investigation for tuberous sclerosis?

Answer 258

Skull films: 'railroad track' calcification CT/MRI head: tuberous masses in cerebral cortex (often calcify) Echo and abdominal ultrasound: hamartomas and renal cysts

Question 259

What are the clinical signs of neurofibromatosis?

Answer 259

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

Question 260

What are the genetics of neurofibromatosis?

Answer 260

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

Question 261

What are the associations of neurofibromatosis?

Answer 261

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

Question 262

What are the complications for neurofibromatosis?

Answer 262

Epilepsy Sarcomatous change (5%) Scoliosis (5%) Mental retardation

Question 263

What are the causes of enlarged nerves and peripheral neuropathy?

Answer 263

NEUROFIBROMATOSIS Leprosy Amyloidosis Acromegaly Refsum's disease

Question 264

What are the features of Horner's pupil?

Answer 264

PEAS Ptosis (levator palpebrae is partially supplied by sympathetic fibres) Enopthalmos (sunken eye) Anhydrosis (sympathetic fibres control sweating) Small pupil (miosis) ------------------------------------------------ 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)

Question 265

What are the causes of Horner's syndrome?

Answer 265

Brain stem: stroke (Wallenberg's), MS Spinal cord: syrinx Neck: aneurysm, Trauma, Pancoast's

Question 266

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

Answer 266

Moderately dilater pupil that has a poor response to light and a sluggish response to accommodation Absent or diminished reflexes indicated Holmes-Adie syndrome

Question 267

What are the signs of Argyle-Robertson pupil?

Answer 267

Small, irregular pupil Accommodates but doesnt react to light Atrophied and depigmented iris ----------------------------------------- Offer to look for sensory ataxia (tabes dorsalis)

Question 268

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

Answer 268

If the pupil is normal consider medical causes of III palsy Surgical causes often impinge on the superficially located papillary fibres running in the III nerve ---------------------------------------------------- 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

Question 269

What are the causes of optic atrophy?

Answer 269

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)

Question 270

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

Answer 270

Wet (neovascular and exudative) or dry (non-neovascular, atrophic and non-exudative) Macular changes: -Drusen (extracellular material) -Geographic atrophy -Fibrosis -Neovascularisation (wet)

Question 271

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

Answer 271

Age, white race, family history and smoking Wet AMD have a higher incidence of coronary heart disease and stroke

Question 272

What is the treatment for age-related macular degeneration?

Answer 272

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

Question 273

What is the prognosis of age related macular degeneration?

Answer 273

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

Question 274

What are the clinical signs of retinitis pigmentosa?

Answer 274

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

Question 275

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

Answer 275

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

Question 276

What is the prognosis of retinitis pigmentosa?

Answer 276

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

Question 277

What are the causes of tunnel vision?

Answer 277

Papilloedema Glaucoma Choroidoretinitis Migraine Hysteria