Station 5 Flashcards
Tuberous sclerosis features
AD inheritance (variable penetrance)
Epilepsy Cognitive deficits Tuberous CNS masses Periungal fibromas Adenoma sebaceum Retinal phakomas Shagreen patches (roughened) Ash leaf marks Respiratory - cystic lung disease - fibrosis - recurrent pneumathoraces Abdominal - polycystic kidneys
Increased risk of renal / CNS malignancy
Neurofibromatosis features
AD inheritance
>5 cafe au lait spots axillary freckling cutaneous neurofibromas epilepsy increased risk of intracerebral tumours lisch nodules (iris) CVS: phaeo, coarctation, high blood presure MSK: scolios, lordosis / kyphosis, fractures / dislocations Pulmonary fibrosis
NF2 specific
- less cutaneous presentation
- bilateral acoustic neuromas
Rheumatoid arthritis features
Hands
- Z thumb
- boutonniere deformity
- swan neck deformity
- MCP swelling, subluxation with ulnar deviation
- disuse atrophy
- carpal tunnel syndrome
Elbows
- rheumatoid nodules
Eyes
- keratoconjunctivitis sicca (sjogren’s highly associated)
- scleritis / iritis / episcleritis
Respiratory
- pleurisy / pleural effusions
- ILD
CVS
- increased risk IHD
- pericardial effusion / pericarditis
Vasculitis
- rash / peripheral neuropathy
Felty’s syndrome: leukopenia, splenomegaly, RA
Atlanto-axial subluxation
XRAY rheumatoid arthritis
Soft tissue swelling
Loss of joint space
Periarticular osteopenia & erosions
Deformity
Xray in OA
Loss of joint space
Subchondral sclerosis & cysts
Osteophytes
Rheumatoid arthritis management
General
- PT/OT
- MDT for extra-articular features
1) NSAIDs \+ start DMARD ---> MTX 2) steroids for flares 3) biologics - anti TNF e.g. infliximab
SLE features
General: fatigue, fever
Hands / MSK
- arthralgia, myalgia
- Jaccoud’s arthropathy - non-deforming, resolves with making fist
- avascular necrosis of the hip
Mucocutaneous
- mouth ulcers
- photosensitive rashes
- malar rash
- discoid lupus with scarring alopecia
- vasculitic rash
- livedo reticularis
Cardiorespiratory
- pleurisy
- ILD
- pericarditis
Renal
- hypertension
- nephrotic syndrome
- can progress to ESRF
Neuropsych
Haematological
- autoimmune haemolysis
- APLS
SLE management
Acutely with usual low dose maintenance - prednisolone Hydroxychloroquine Immunosuppressants - MMF - particularly if renal disease - MTX Acute renal failure -> IV cyclophosphamide Rituximab Antiphospholipid -> warfarin
Hypertensive retinopathy
1) Silver wiring
2) AV nipping
3) Flame haemorrhages, cotton wool spots, exudates
4) Papilloedema
Diabetic retinopathy
Pre-proliferative
- microaneurysms
- dot and blot haemorrhages
- cotton wool spots
Proliferative
- neovascularisation of disc / macula
- vitreous haemorrhage
Features of malaria
Non specific symptoms
- fevers, chills, malaise, headache, myalgia, diarrhoea
Severe
- sepsis
- renal failure
- liver failure
- coagulopathy / DIC
- cerebral involvement
Dengue
Initial
- high fever, maculopapular rash, headache, GI upset
Haemorrhagic?
Typhoid
Fever, rigors, relative bradycardia -> GI upset, rose spots -> GI perforation
Ix: stool mcs
Mx: depends on local resistance, but ceftriaxone
Causes of traveller’s diarrhoea
E Coli - bloody Shigella - bloody Salmonella - bloody Campylobacter - bloody Malaria Typhoid Dengue Entomoeba histolytica - bloody Giardiasis - parasite
HLA-B27 associations
Psoriasis
Ankylosing spondylitis
IBD
Reactive arthritis
Associations with SAH
ADPKD
Marfan’s
Ehlers Danlos
Carbimazole counselling
- marrow suppression -> must attend if feel feverish / unwell for blood count
- explore family plans!
- –> start after thyroid disease controlled
- –> if planning for family soon, propylthiouracil
Radioiodine cautions
- makes Grave’s eye disease worse
- cannot be used in pregnancy / breastfeeding
- avoid if iodine allergy
- avoid close contact with others 12 days, pregnant & children 30 days
Thyroid eye disease grading
0-6 scale
No symptoms -> soft tissue swelling -> proptosis -> extraocular involvement -> corneal involvement -> sight loss
Long-term risks hyperthyroidism
Heart failure, arrhythmias, hypertension, osteoporosis
Complications of OSA
Pulmonary hypertension -> breathlessness, peripheral oedema with progressive right heart failure
Pyrexia unknown origin causes
Malignancy e.g. haematological (B symptoms) Infection - HIV - TB - EBV - subacute infective endocarditis - malaria Rheumatological conditions!
Arterial insufficiency signs
Punched out ulcers Loss of hair Shiny skin Loss of pulses Cool peripheries
Causes of peripheral visual field loss
Pituitary pathology Diabetic retinopathy Retinitis pigmentosa Glaucoma Retinal artery occlusion Ischaemic optic neuropathy
Retinitis pigmentosa features and associated syndromes
sporadic, AD, AR, X-linked
Progressive visual loss from childhood, peripheral, night vision, colour vision first
Bone spicule appearance
Associated syndromes
- refsum’s disease (phytanic acid metabolism)
- –> deafness
- –> cerebellar ataxia
- –> peripheral neuropathy
- –> icthyosis
- –> pes cavus
- usher syndrome - + congenital SN hearing loss (commonest cause deaf/blindness UK)
Dermatomyositis signs
Mechanic hands Gottron papules knuckles Heliotrope rash V shape sign chest Hyperpigmentation ILD? Proximal myopathy Myositis
Anti synthetase syndrome
Anti jo / SRP (synthetase abs) + ILD + polymyositis or dermatomyositis
Polyglandular autoimmune syndromes
Type 1 AIRE AR mutation: chronic mucocutaneous candidiasis, Addison’s, hypoparathyroidism, other autoimmune disease
Type 2: addison’s, type 1 diabetes, hypo/hyperthyroidism
MEN
MEN1 - AD
- pituitary adenoma
- pancreatic tumour
- parathyroid hyperplasia
MEN2a - AD
- medullary thyroid
- phaeochromocytoma
- parathyroid hyperplasia
MEN2b - AD
- medullary thyroid
- phaeo
- marfanoid
- neurofibromas
Methotrexate counselling
- immunosuppressant -> seek medical advice if feel unwell
- common SEs: nausea, diarrhoea, mouth ulcers, hair loss -> all improved by taking folic acid
- baseline bloods, CXR, LFTs, renal function
- avoid etoh
- avoid pregnancy
Rheumatoid arthritis diagnostic criteria
American college of Rheumatology criteria
- number of joints
- size of joints
- duration of symptoms
- positive serology
- elevated inflammatory markers
Causes of recurrent VTE
RFs VTE
- immobilisation
- long haul travel
- surgery
- malignancy
- drugs: OCP, HRT
Thrombophilias
- APLS
- Factor V leiden
- Protein C / S deficiency
- Antithrombin deficiency
- Active malignancy
- Nephrotic syndrome
Other conditions
- nephrotic syndrome
- IBD
Well’s score DVT & VTE
PE
>4 - PE likely -> CTPA
4 or less -> D dimer first
DVT
3 or higher - DVT likely -> duplex
<3 -> D-dimer first
- 5x kg weight enoxaparin
- > NOACs e.g. rivaroxaban
3 months if known trigger
6 months if none
Consider longer if cancer / other active disease ongoing
MTX toxicity mx
Stop methotrexate and statin
Repeat LFTs in 2 weeks
Monitor +/- consider restarting (altered dose) or switch
PE severity
PESI score in PE
Massive - hypotensive <90mmHg, bradycardia, cardiac arrest
Submassive - RV strain/dysfunction, raised troponin
PESI 0 - can be managed as OP
Otherwise manage as IP
Systemic sclerosis management
Telangiectasia: camouflage creams Scleroderma: immunosuppression HTN: ACEi Raynaud's: hand warmers, calcium channel blockers Reflux: PPI / antacids Oesophageal dysmotility: prokinetics ILD: immunosuppression, transplant PHT: sildenafil / bosentan Inflammatory arthritis: low dose steroid taper (beware scleroderma renal crisis)
Risk factors / associations IIH
Female Obesity Cushing's Hypothyroidism PCOS Systemic disease: CKD Drugs: GH, tetracyclines, (OCP)
Migraine
Aura
Unilateral
Dark room, photophobia, phonophobia
RFs: etoh, caffeine, poor sleep, stress, diet, menstrual cycle
Mx
- Acute
- –> simple analgesia
- –> triptans
- –> metoclopramide
- Chronic
- –> propranalol
- –> topiramate
- –> lifestyle
Cluster headache management
Acute - oxygen - SC / nasal triptan Chronic - verapamil
