Station 5 Flashcards
Weight gain and you suspect cushings syndrome- what is it?
History points to show the examiner you know aboout it?
Hypercorticol
Head
-Rounded face
- Cataracts (steroids)
- Acne
- Visual field defects / headaches (pituitary)
- Oral thrush
Neck
-Buffallo hump
- Acanthosis nigrans
Body
- Central obesity
- Worse diabetic controll - polydipsia …
- Hypertension - headaches
- Increase bodily hair
Limbs
- Proximal myopathy - unable to stand from sitting
- Fragility fractures
- Avascular necrosis of femoral head
- Easy brusing
PMH
COPD / Asthma / bronchiectasis
Malignancy
inflammatory conditions - eg Rhem etc
FH
MEN
Social
Smoking
Diabetes
Function
DH
Steroid use
What is thier CONCERN
Types of cushings and how to differentiate
Iatrogenic
- Secondary to steroid meds
Endogenous
- ACTH dependent -> Pituitary or ectopic neuroendocrine (most commonly small cell Ca / carcinoid)
- ACTH independed -> Adrenal carcinoma
Confirm diagnosis
Screen with
Cushings exam
End of bed
- Wheezing
- Central obesity
- Hairloss
Hands
- FIngerprick
Arms
- Bruises
- BP raised
Head
- Visual field defects
- Oral thrush
Neck
- Acanthosis nigrans
Abdo
- Striae
- Scars from adrenal surgery
Legs
- Ask to stand from chair without arms to assess proximal myopathy
Cushings ix
End of bed
- Observation chart
- Finger prick glucose
- Urine dip - glucose and protein
- ECG - for LVH
Bloods
- Confirm diagnosis - overnight dexamethasone test.
- ACTH levels
High Pit / ectopic tumour
Low Adrenal
Imaging
- CXR for lung Ca
- MRI pituitary
- CT adrenals / chest dependent on likelyhood
What do you have to stop before doing overnight dex supression test? How does it work?
HRT
COCP
pred / dex etc
1mg dex at 11pm
Measure cortisol at 9am (should be supressed)
Slightly unclear if cushings from pituitary or not after MRI what test can you do?
Inferior petrosal sinus sampling
[Measure ACTH levels in vein draining from pituitary]
How do Ketoconazole / Metyrapone work for cushings
reduce baseline cortisol by inhibiting 11b hydroxylase
Management of cushings
Conservative
- Patient education
- PT / OT if required
- Slow withdrawal of causative agent
Medical
- Management of HTN / diabetes / bone protection
- Steroid sparing agent eg Azathioprine in crohns
- Ketoconazole / Metyrapone while awaiting definitive surgery ->
Surgery
- Trans-sphenoidal hypophysectomy for pituitary adenoma
- Adrenalectomy for adrenal adenoma
Osteoperosis lumbar fracture ix? management?
Bloods
- FBC/CRP/ESR - infection / anaemia chornic disease. Myeloma
- Renal function - myeloma and opiate analgesia
- LFTs - ALP mets
- Ca
- Serum electrophoresis / bence jones - myeloma
Imaging
- Lumbar XR
- Likely for DEXA to meausre bone density looking for <-2.5 if she has osteoperosis
Conservative
Physio
Allert button
POC
Medical
Analgesia + constipation counciling
Caclium
Post dexa - bisphosphonate once weekly
Repeat appointment
General ways cancers present
Local disease
Eg lung Pain / SOB / Cough / haemoptysis
Systemic
- Weight loss, reduced apetite, night sweats
- Paraneoplastic Eg hyperCa, SIADH
Through screening programes eg bowel / breast
History taking basics to jot down structure
- HPC
- PMH
- Systems review
- DH
- SH
- FH
- ICE
- Summary
- Plan
- Examine
Chest pain causes
- Cardiac
- PE
- PTX
- Pneumonia
- MSK
- Gastro / gall bladder
- Anxiety
- Dissection
How does writing appear in types of tremor
Parkinsons - small
Cerebella - messy
essential - messy
Tremor differentials
Essential
Parkinsons
Parkinsons plus. PSP, MSA, CBD, demetia lewy
Drug induced
- Dont forget OTC Metoclopramide / promethazine
Thyroid
Phaeo
3 ways alcohol can be related to tremor
- Alcohol -> cerebellar disease
- Withdrawal -> tremor especially in morn
- Improves essential
2 syndromes with ciliary dyskinesia
Primary ciliary dyskinesia
Kartageners
both get chronic sinusitis and infertility
Heart defects associated dextrocardia
Transposition of great arteries
VSD
pulmonary stenosis
Present VSD
This young patient has a loud pan systolic murmur
The pulse is regular and the fingernails are clubbed
There is a prominent apex beat.
There is a loud P2 and raised JVP which would be suggestive of Eisenmenger’s syndrome
What is Eisenmenger’s? Causes?
Occurs with L-> R shunt
Rise in pulm artery pressure to that of L sided circulation
-> reversal of shunt
-> cyanosis
Causes
- congenital VSD/ASD/PDA/Fallots
- Pulmonary hypertension
How might murmur change with size of VSD
Small - loud pansystolic
Large - softer murmur with loud P2 (pulm HTN) + early diastolic pulm regurg
Causes of VSD
Congenital - 1/500 Births
Eg With down / turners / tetralogy / pda
Aquired
- Post MI with septal rupture
Fallots bits
Pulm stenosis
VSD
Overriding aorta
RVH
What is fibromuscular dysplasia ? Symotoms? Diagnosis?
Treatment?
Condition where some large arteries have abnormal cells in wall -> string of beads appearance
Most commonly Renal and Carotid arteries (GI and all others can be involved)
Usually occurs in some women
Symptoms
- Headaches, neck pain, pulsitile tinnitus,
- May cause TIA
- Renal artery -> HTN, flank pain, Renal Bruis
- Intestine / liver /spleen - pain and weight loss
- Extremities - discomfort on exercise
Complications
- As above
- Aneurysms / Dissection of artery
- SCAD
Diagnosis
Angiography / CT / US
Treatement
- STOP smoking
- Consider antiplatelet for stroke prevention
- Anthypertensive
- Angioplasty / stenting
- Surgery for high risk arteries
Main 2 issues at presentation with peutz jegher?
Cause?
Complications?
Diagnosis?
Colonic polyps
Melanotic macular patches in mouth, arms and genetalia
Autosomal Dominant Mutation in STK11 gene (tumor supressor)
Complcations
- Polyp large enoigh to obstruct
- Polyp ulcerate and bleed -> IDA
- Cancer many places - Colon, pancreas, uterine, breast, lung, testis
Exam of macules
Colonoscopy
Genetic testing for STK11
Heredetary haemorhagic telangectasia is? Where do you get them?
Diagnosis? Management?
Osler webber rendu
Autosomal Dominant causing Telangectasias in many places which can bleed especially
- nasal recurrent epistaxis - 95%
- GI melena 25%
- pulm arteriovenous malformation (SOB) 15% -> SOB, cyanosis, polycythemia, stroke
Diagnosis
FBC anaemia
Feceal occult blood
Angiography
Genetic testing
Management
- Symotomatic eg iron / blood
- Telangectasia - laser
- Emobili - antiplatelets
- Pulm AVNs - surgical
3 words / 3 people / 3 locations
Facial findings of hypothyroid
Peaches and cream complexion
Loss of outer 1/3 eyebrow hair
Anaemia definition
In men aged over 15 years — Hb below 130 g/L.
In non-pregnant women aged over 15 years — Hb below 120 g/L.
In children aged 12–14 years — Hb below 120 g/L.
In pregnant women — Hb below 110 g/L throughout pregnancy.
Mechanisms of anaemia
Production issues
- Myelofibrosis
- Marrow infiltration eg Ca / infection
- B12 / Folate / iron
- Renal anaemia (epo)
- Thalassaemia
Increased destruction
- Sickle cell
- Spherocytosis
- Haemolysis from valves
- Hypersplenism
Increased plasma volume
- Post resus
- Pregnancy
Blood loss
Anaemia of chronic disease
Microcytic anaemia causes
Caused by impaired haem/globin synthesis
Anaemia of chronic disease
Iron deficiency
Thalassaemia
Acute - lead posoning
Sideroblastic anaemia
How to differentiate Normocytic anaemia cause
[RBCs lost / less produced]
WBC and reticulocyte count
Macrocytic anaemia causes? investigations to differentiate?
Decreased DNA synthesis / decreased cell division
Megaloblastic (impaired DNA synthesis) - Delayed maturation which results in fewer large cells
- Vit b12/folate
- Chemotherapy drugs which interupt dna synthesis
- Anti folate drugs - methotrexate, phenytoin, trimethoprim
Non megaloblastic
- Alcohol use
- liver disease
- Hypothyroid
- haemolysis
- Myeloma
- Myelodysplasia
Signs of anaemia
All
- pallor
- Hyperdynamic circulation - tachycardia, systolic flow murmur (+/- hypotension)
- Peripheral / pulm oedema due to high output cardiac failure
Iron deficiency
- Koilonycia, Angular stomatitis
b12 deficiency
- Jaundice
- Peripheral neuropathy + hyperreflexic knee jerks, absent ankle reflex
- Glossitis
- Cognitive imparement
Haemolysis
- Jaundice
- Cardiac surgery
- Splenectomy surgery
Crohns - apthous ulceration
Telangectasia - HHT
Mucosal lesions - peutz jegur
Abdo scars / masses
Anaemia of chronic disease - Rashes / joint pathology
How to interpret iron studies
Low ferritin
- Iron deficiency
Normal ferritin does not exclude
- Ferritin increases with age / inflammation/infeciton
Iron levels
Iron levels
Total iron binding capacity
-> Transferrin (carrier of iron)
Transferrin saturations = iron level / total iron binding capacity
- normal 20-50%
- Low suggests iron deficiency
- normal in anaemia suggests anaemia of chronic disease
- High hereditary haemochromatosis
History points for causes of iron defiency anaemia
General symptoms
- Fatigue, weight loss, exercise tollerance
Dietary restrictions
Meds
- Anticoagulants
- OTC analgesia - NSAIDS
Blood loss
- Donation
- Menstural
- Malena
- Epistaxis
- Haematuria
Malabasorbtion
- Diarrhoea
- Ulcers in mouth
- Weight loss / fevers
PMH
- IBD
- coeliac
- Surgery
- Pregancy
IDA investigations
Bloods for specific cause
- Iron / b12 / folate
- Coeliac - anti-TTG / anti-endomysial
The poo itself
- Stool culture
- Feacal Calprotectin
- Parasite screen
Visualise the bowel
- OGD / colonoscopy
woman
- Gynae review if needed
If epistaxis / haemoptysis
- Chest CT to look for pulmonary artery venous malformations (HHT)
Causes of B12 deficiency?
apart from Ix of these what other Ix?
Diet - especially vegans
Drugs
- Metformin
- PPIs
Decreased Absorbtion
- Crohns
- Coeliac
- Pancreatic insufficiency
- Pernicious anaemia
- Hy pylori
- Surgery
- Diphyllobothrium latum - fish tapeworm
Additional Ix
- Neuro signs - MRI of spine
- Visual evoke potentials if optic atrophy suspected
DDDD
Bloods to suggest anaemia of chronic disease? Pathophysiology
Usually normocytic / microcytic
Elevation of inflammatory markers
Low serum iron
Normal / reduced serum iron binding capacity
Inflammatory cytokines (eg IL-6) increase Hepcidin (produced in liver) which blocks the release of iron from macrophages, hepatocytes, and enterocytes
IDA how long do you give iron for
3 months after normalisation of anaemia and microcytosis
-> replace marrow and liver stores
Why is b12 given as injection?
Most common mechanisms of deficiency are dsorders of luminal absorbtion
If vegan diet is cause can just give oraly
Folate and borderline b12 what do you need to do?
Replace both - ideally b12 first
If just replace folate there is a risk of worsening b12 deficiency -> subacute degeneration of cord
Haemolysis investigations? Key infections causing?
Ix for cause?
Blood film - fragmentation
Reticulocyte count
LDH
DAT
Haptoglobin
Infection screen
- Mycoplasma
- Malaria
- Parvovirus
- EBV
Specific causes
- Haemoglobinopathy screen
- G6PD screen
- Osmotic fragility test - spherocytosis / eliptocytosis
- Flow cytometry for CD55 and CD59 - Paroxysmal nocturnal haemaglobinaemia
Aaemia and raised white cell count / platelets causes
WCC
- Infection / inflammation
- Leukaemia
- Malignancy
- Steroids
Thrombocytosis
- Blood loss
- Iron deficiency
- Myeloproliferatice
Eczema differentials
Scabies - especially if intense itching after showers
tinea pedis if starting between toes and spreading
Irritant contact dermatitis - if localised to a particular area
Sebberhoeic dermatitis - if affecting head
Eczema common triggers
House dust mites
Pet fur
Pollen
Food - eg cows milk/eggs/nuts
Detergents
Stress
Lifestyle advice eczema ? Other treatment?
Avoid triggers eg pets / dust
Dont use non perescription shower gel
Don’t overwash - can dry out skin
Cotton clothes
Treatment
- Plenty emollents
- Use prescription soaps eg dermol 500
- Topical corticosteroids for defined period of time (less potent over eyes / face / flexures)
- Antihistamines
- Topical Abx if infection
Immunosupressant / Biologic for eczema
Azathioprine
Cyclosporin
Methotrexate
Mycophenolate mofetil
Dupilumab
Topical steroids side effects?
Telangectasia
Atrophy
Striae
If eyelids -> glaucoma / cataracts
Causes of puritis
Skin
- Eczema
- Dermatitis herpetiformis
- Scabies
- Fungal
- Lichen planus
Systemic
- Cholestasis
- Uraemia
- Lymphoma
- Polycythaemia
- Drug reactions
Causes of non bacterial meningitis
Viral Eg HSV
Lime disease
Fungal
Protozoal eg malaria
Malignant
Paraneoplastic
How would you approach meningitis management
Focused A-E with obersvations
Bedside
- Glucose
Bloods
Inflam markers, lactate
If no localising signs or evidence of raised ICP -> LP otherwise
Administer broad spectrum antibiotics according to local guideline
Organise Urgent CTB followed by LP
LP looking at opening pressure, Protein, glucose, lactate, Cell counts, gram stain, culutre, viral / bacterial PCR
Complications of meningitis
- Death
- Permanent neurological issues eg cognitive, deafness, blindness
Management of migraine
Acute symptom management
- Start with paracetamol and NSAID
- Consider triptans
- Antiemetic
Prophylaxis if recurrent or debilitating
- Lifestyle - hydration, sleep, exercise, stress and other triggers eg chocolate
- Propranolol / topimarate
Important Qs in Headache to rule out
- Meningism - neckstiffness, photophobia
- Infective symptoms - eg rash, Immunosuppression, fevers
- Evidence raised icp
-Nausea and vomiting focal neurology, Posture, coughing - GCA - jaw claudication, scalp tenderness, visual loss
Multiple myeloma pathology?
Presentation?
Investigations?
Staging?
Treatment?
- Myeloma exessive multiplication of plasma cells -> reduction in other blood cells (RBC, WCC, Pts)
- Produce Igs which accumulate in
Kidneys -> renal impairment
Blood vessles -> hyperviscosity
Present with sx hyperCa or non specific B symptoms / pathological fracures / bone pain
Investigations
- FBC anaemia/pancytopenia, U&Es, blood smear (rouleaux formation - RBCs stuck together), Igs, electrophoresis (either kappa or lambda raised)
- XRs bone pain, CT / skeletal survey looking for lytic leisions
- If positive above consider bone marrow biopsy
Staging LAB
- beta-2-microglobulin
- Albumin
- LDH
Treatment
- Chemotherapy
- Immunotherapy
- Stem cell transplant
Basics = B cells -> plasma cells -> antibodies
Marrow biopsy in myeloma shows? how to make definitive diagnosis?
- > 10% clonal plasma cells
- or plasma cytoma
SLiM CRAB
- if any positive = myeloma
Present features of Marfan’s syndrome?
- This gentleman has a tall thin stature.
- He has arachnodactly and can wrap his hand round his wrist with ease and when he makes a fist his thumb protrudes beyond the fist.
- His arm span is greater than his height
- His feet demonstrate pes planus
- There is evidence of scoliosis and pectus excavatum deformity
- There is a murmur (AR/MR) / sternotomy scar and evidence of a valve replacement
Cause of Marfan’s syndrome?
Autosomal dominant mutation in fibrillin 1 gene.
25% spontaneous mutation.
Bone deformities associated with Marfan’s syndrome?
- Often joint laxity - Patella, clavicle and knee may all dislocate
- There can be pectus excavatum, or carinatum
- Scoliosis
- Pes planus
Most common cause of death in Marfan’s syndrome?
Cardiovascular complications, e.g., aortic root dissection.
Eye issues in Marfan’s syndrome?
Cataracts, upwards dislocation of lens.
compared with homocystinuria which causes downwards dislocation
Pulmonary complications in Marfan’s syndrome?
Spontaneous pneumothorax.
Investigations and management in Marfan’s syndrome?
Bloods
- Plasma homocystine levels (rule out homocystineuria)
- Consider genetic testing
Conservative
- monitor aortic diameters with regular echocardiograms
- avoid high-pressure exercises and scuba diving.
Medical
-Tight control of BP lifelong (B blockers) ,
Present features of neurofibromatosis?
- This gentleman has multiple penduculated lesions on his skin consistent with neurofibromas
- There is also a number of cafe-au-lait spots
- There is axillary freckling
- In the eyes there are a number of yellowy-brown lesions representing lisch nodules
- Visual acuity was reduced which may be due to optic gliomas
- I would like to complete my exam by getting a full set of observations paying particular attention to BP
Features of neurofibromatosis not found on exam?
- Learning difficulty
- Optic gliomas
- Kyphoscoliosis
- Phaeochromocytoma
- Renal artery stenosis
Criteria for diagnosis of neurofibromatosis type 1?
Two or more of:
- 2 neurofibromas
- 6 cafe au lait spots
- Lisch nodules
- axillary freckling
- optic glioma
- family history.
Why check blood pressure in neurofibromatosis?
To screen for phaeochromocytoma and renal artery stenosis.
Complications of neurofibromatosis type 1?
- Renal artery stenosis
- phaeo
- Kyphoscoliosis
- Optic glioma
- Compression of spinal cord / other nerves eg CNs
- ## Rarely sarcomatous change
Present features of polymyositis?
- There is peripheral wasting of the muscles but no evidence of fasciculations
- On palpation there is tenderness of the proximal muscle groups
- There is symmetric weakness of the proximal muscle groups of the arms and legs which was not fatiguable.
- There was no myotonia or ptosis
- Reflexes, sensation and coordination were normal
- There was no rash over the knuckles or around the eyes
- To compete my exam I would complete a full CN, Cardiovascular and Respiratory exam
Differentials for (myopathy) eg polymyositis?
There is evidence of a myopathy
- Dermatomyositis - would expect a rash (gottrons papules hands/elbows, heliotrope rash round eyes, macular rash in sun exposed areas)
- Inclusion body myositis (often more focal and asymmetric more likely male and slightly older)
- Myositis associated with connective tissue disease
- Endocrine - Thyroid / cushings
- Drug causes eg statins / azathioprine
- Duchenne / beaker - would expect to have presented earlier and male
- Myotonic dystrophy - myotonia
- Limb girdle muscular dystrophy
- Myasthenia - would expect fatiguability
- Polymyalgia rheumatica .
Investigations for polymyositis?
- Bloods including inflammation markers (ESR - PMR is differnential)
- CK
- Anti body screen for connective tissue eg ANA
Special - EMG
- MRI
- Consider muscle biopsy
Investigations for complications in confirmed polymyositis?
- Pulm function tests - neuromuscular insufficiency and ILD
- Consider HRCT
- Rarely can have weakness of face / neck
- ECG - conduction block
- Echo - failure
- Low threshold for screening for Ca - CXR / Abdo US
How does CK help in myopathy?
- Normal in steroid induced
- Normal / minimal elevation in inclusion body myositis
- Polymyositis - often raised several fold (not always)
- Can be used to monitor disease progression
Differences between inclusion body myositis and polymyositis?
- Tends to be males and older
- Assoc with focal and asymmetric myositis
- Quadriceps and wrist / finger flexors (more than extensors)
- Deltoids spared
- CK less raised
Differences between polymyalgia rheumatica and polymyositis?
- PMR - pain and stiffness of shoulder girdle (and lesser extent the hip)
- Don’t expect true weakness
- [Compared with polymyositis which is more weakness rather than paining tenderness]
- Significant rise in ESR and viscosity
- Normal muscle biopsy
Use of antibodies in myositis investigation?
- ANA may be weakly positive in polymyositis but strong positive in connective tissue disease
- Anti-jo in polymyositis + pulmonary fibrosis
- Anti-mi-2 very specific for poly/dermatomyositis
- Anti-Ach / MuSK useful to help differentiate neuromuscular junction pathology from myositis
Management of polymyositis?
- Steroids mainstay with reducing course + PPI/Ca/Bisphophonates + monitor BP / Sugars / risk of AVN of femur
- Azathioprine / MTX can be used
Association of polymyositis with malignancy?
Much more associated with dermatomyositis.
Types of psoriasis?
- Plaque (Psoriasis vulgars) - well defined scaly rash on extensor surfaces
- Guttache - Sudden eruption salmon pink with a fine scale found on trunk, often after streptococcal infection eg pharyngitis
- Pustular - pustules often localised to the palms and soles on background of erythema
Differences between gonococcal and reactive arthritis?
- Gonococcal Tendosynovitis predominant + Migratatory arthritis, rash over body but not usually hands/ feet
- Gonococcal is a septic arthritis
- Reactive - less joints with rash on palms / Soles [reactive run]
Pathophysiology and risk factors of psoriasis?
- Hyper-proliferation of dermis with inflammatory infiltrates
- Family history and Smoking
Types of psoriatic arthritis?
- Distal phalangeal arthritis
- Asymmetric oligoarthritis
- Symmetric polyarthritis - very difficult to distinguish from rheum arthritis
- Axial spondyloarthritis
- Arthritis mutilans - pencil-in-cup telescoping of digits
Complications of psoriasis?
Ischemic heart disease, lymphoma.
Drugs that worsen psoriasis?
Beta blockers, NSAIDs, lithium, alcohol.
[similar to myaesthenia]
Management of psoriasis?
- Stop smoking
- Mild/mod generally topical therapy (emollients / steroids / vitamin d analogues / tar)
- Mod severe generally systemic eg phototherapy / retinoids / MTX / cyclosporine / Anti-TNFa
How to present MSK in general
1 Describe what you see
2 state deformities
3 Active vs quiesent disease
4 Functional ability
5 extra articular features
Present Rheumatoid arthritis
- This lady has a symetricical diforming polyarthropathy of the hands
- There is evidence of swelling of the MCP and PIP joints
- There is evidence of joint subluxation affecting the wrist and MCP joints
- The small muscles of the hand are wasted
- There is a swan neck deformity of the right index and butoniers defromity of the in
- there was warmth and swelling over the joints indicating active synovitis
- Her elbows demonstrated rhuematoid nodules
- There was a limited range of movement with a functional deficit with an inibity to undo her top button or forn a pincer grip
Rheumatoid arthritis extra articular features
- Neuo - mononeuritis multiplex, sensory polyneuropathy, carpal tunnel
- Opthatl - epi/sleceritis, keratoconjunctivitis sicca
- Resp - Pulmonary fibrosis, pulm effusions, pulm nodules
- CV - Pericaditis / effusions
- GI - Splenomegaly (felty)
- Renal - amyloid, drug induce nephropathy
- Fatigue, anaemia, osteoperosis, depression
Name 3 ways a patient with rheum A could be anaemic
- Anaemia of chronic disease
- Fe deficiency - NSAID -> gastitis
- Megaloblastic - MTX use
- Felty’s syndrome
- Assoc haemolytic anaemia
Rheum vs Psoriatic vs SLE vs scleroderma vs Mixed connective tissue disease
Rash? Raynauds?
Rheum
- Unliklely rashes
- Sicca / eye inflamation
- Rheum nodules esp elbows
Psoriatic
- Distal arthritis + nail changes
- Psoriasis elsewhere
SLE
- Less joint swelling / synovitis
- Rash esp photosensitive
- Raynauds
Sleroderma
- Raynauds
- Tight hands -> atrophied and tapered
- Less rash
Mixed connective tissue disease
- Dactylitis (sausage)
- Raynauds
Drug induced lupus causes
S: ulfasalazine
H: ydralazine
I: soniazid
P: henytoin
P: enicillamine
Anti-TNFa in ANA positive
Antibodies / bloods in lupus / sjogrens
- ANA - generally though often present in other poeple esp if they have any chronic inflammation
- Antiphospholipid screen
- Anti-ds-DNA / anto-sm - lupus
- Anti Ro / La - Lupus / sjogrens
- Low c3 complement - lupus
- FBC / inflam markers
- Renal function
What blood test in all auto-immune rheumatic / ctd
Antiphospholipid screen
Anti-cardiolipin
beta-2-microglobulin
Lupus anticoagulant
What makes antiphospholipid screen
Anti-cardiolipin
beta-2-microglobulin
Lupus anticoagulant
Why hydroxycloroquine in lupus? If arthralgia significant?
What would be first choice in lupus nephritis?
CNS lupus?
Much less likely to develop
- renal disease
- CNS disease
- VTE
Significant arthralgia -> methotrexate + steroids
Lupus nephritis -> Mycophenolate (if very severe -> cyclophosphamide)
CNS - rituxumab / Belimumab
DMARDs in lupus wanting to get pregnant
- Hydroxycloroquine
- Azathioprine
BAD - Ritux / cyclophosphamide / mycophenolate
Young female stroke in neuro station
Lupus - antiphospholipid + COCP
Causes of hyponatraemia mneumonic - what is the key thing to examine
HADSIADH
* H - Hypothyroidism * A - Addison’s disease (adrenal insufficiency) * D - Diarrhoea + GI losses * S - SIADH (Syndrome of Inappropriate ADH) * I - Iatrogenic (e.g. polydipsia / excessive IV fluids) * A - Acute kidney injury or chronic kidney disease * D - Drugs - Diuretics (especially thiazides) (SSRIs, carbamazepine, antipsychotics) * H - Heart / Liver failure (leading to hypervolemic hyponatraemia)
Assess volume status
Glucose
Bisphosphonates complications?
Dental check for osteonecrosis of jaw
May cause
- HypoCa
- Episcleritis
- Atypical femoral fractures
- Osteonecrosis of jaw
Ehlers danlos is?
Complications?
Ix?
Group of conditions with Joint hypermobility and pain secondary to collagen defects
- Joint hypermobility -> dislocations and arthritis may require surgery
- AR / MR / MVP
- Thin and easy bruising skin
- Haemorrhage from aneurysms
Diagnosis is based on clinical criteria however consider genetic testing
- COL5A1 / 2 most common
Marfans main complications?
Examination findings?
Investigations?
- Joint pain
- Ectopia lentis / Lens dislocation
- Pneumothorax
- Aortic dissection / MVP (or AR)
Exam
- Tall and thin
- Aracnodactyly
- Pectus excavatum / carinatum
- Scolisis
- Heart murmurs Eg MVP (mid systolic click)
Ix
- Echo - looking for aortic root dilation
- Consider genetic testing fibrilin-1
Main investigations marfans
Echo - looking for aortic root dilation
Consider genetic testing fibrilin-1
What is homocystinuria? How does it present ?
Exam findings?
Ix?
Inborn error of metabilism of homocystine -> interferes with collagen and fibrillin
- Interlectual disability
- Ectopia lentis
- thromboembolism
Appears similar to marfans on exam
- Tall and thin
- Aracnodactyly
- Pectus excavatum / carinatum
- Scolisis
- Heart murmurs Eg MVP (mid systolic click)
Investigations
- Methionine / Homocystine levels raied
- Consider genetics - [mutation of cystationine beta-synthase (CBS) gene]
[Marfans with interlectual disability]
Osteogenesis imperfecta presentation?
On exam?
Investigations?
Recurrent low impact fractures (even inutero / during birth)
Exam
- Short
- blue sclera
- Scoliosis / bone deformities
- Poor teeth
Ix?
- Xrays of joints
- Osteopenia
- Genetic COL1A1 or COL1A2
Connective tissue disorders with Tall vs normal vs short stature?
Tall - Marfans / homocystinuria
Normal - Ehlers danlos
Short - Osteogenesis imperfecta
What is sarcoid?
Features?
Main risks?
Diagnosis?
Abnormal immune respose which involves production of non-caseating granulomas. Oten vague symptoms Fever / weight loss etc
Can affect basically anything eg neurosarcoid but most commonly:
-> Bihilar lymphadenopathy
-> Anterior uveitis / retinitis
-> Cardiac fibrosis / rythm issues
-> Erythema Nodosum
Risks
- African american women
- Family Hx
- Prev TB / lime disease
Diagnosis
- CXR - bihilar lymphadenopathy
- Raised Ca (due to vit d release from macrophages)
- Serum ACE raised (produced by t cells)
- BAL - > raised T cells in lungs
- Biopsy is gold standard
Treatment can use steroids but often resolves spontaneously
Is a fine needle aspirate suitable for lymph node biopsy for ?lymphoma
No FNA is only good for cytology.
For diagnosis of lymphoma histology is required
Lymphadenopathy with granuloma formation makes you suspicious of?
TB
Sarcoid
Pharmacological Management of antiphospholipid syndrome
ref to haem
Use of warfarin > DOACs
Antiphospholipid syndrome complications
DVT + PE
Recurrent misscarriage
TIA / Stroke
Livido reticularis
Thrombocytopenia
facioscapulohumeral muscular dystrophy (FSHD)
Gene?
Symtoms?
Ix?
Rx?
Autosomal dominant (or denovo)
DUX4 gene
Symptoms
- Facial weakness - ask to whistle
- Wingning of scapula / unable to raise arms above shoulders
- Abdo -> lordosis and abdo protrusion
- Limb gurdle weakness and foot drop often present
Investigations
- EMG
- Muscle biopsy
- Genetic testing
Treatment
- PT + orthosis / OT
- Genetic counciling
- Occationally scapular fixation sugery (improves shoulder movement)
Dizziness history
Vertigo or no
- Constant / episodic
Vertigo
- Central
Stroke
MS
tumours
- Peripheral
BPPV
Meniers - spontaneous for minutes to hours. Assoc unilateral aural fullness, tinnitus, and sensorineural hearing loss
Vestibular neuritis - Gradual onset and worse by movement. May have other features of viral illness
Non vertigo [A Pretty Pale Human Needs Alcohol]
- Arrythmia
- PE
- Postural hypotension
- Hypoglycaemia
- NPH - ataxia, urinary incontinence, and impaired cognition.
- Alcohol
