Station 5 Top ten:

1. Rheumatoid arthritis 2. Systemic sclerosis 3. Hemianopia 4. Acromegaly 5. Ankylosing spondylitis 6. HIV related problems 7. Diabetic retinopathy 8. Neck lump 9. Retinitis pigmentosa 10. Thyroid eye disease

Endocrine

1. Acromegaly 2. Goitre 3. Hyperthyroidism 4. Hypothyroidism 5. Thyroid eye disease 6. Cushing’s syndrome 7. Addison’s disease 8. Polycystic ovarian syndrome 9. Pseudohypoparathyroidism

Eyes

1. Hemianopia 2. Diabetic retinopathy 3. Retinitis pigmentosa 4. Papilloedema 5. Choroiditis 6. Hypertensive retinopathy 7. Glaucoma 8. Retinal artery occlusion 9. Optic atrophy 10. Retinal vein occlusion 11. Horner’s syndrome

Locomotor

1. Rheumatoid hands 2. Systemic sclerosis

3. Ankylosing spondylitis 4. Paget’s disease 5. Psoriatic arthropathy 6. Marfan’s syndrome 7. Systemic lupus erythematosus 8. Osteoarthrosis 9. Swollen knee 10. Gout

Skin

1. HIV-related problems 2. Psoriasis 3. Hereditary haemorrhagic telangectasia 4. Systemic sclerosis 5. Neurofibromatosis 6. Peutz-Jegher’s syndrome 7. Lichen planus 8. Tuberous sclerosis 9. Pseudoxanthoma elasticum 10. Erythema nodosum 11. Pyoderma gangrenosum 12. Raynaud’s phenomenon 13. Sturge-Weber syndrome 14. Vitiligo 15. Acanthosis nigricans 16. Keratoderma blenorrhagica 17. Henoch-Schonlein purpura 18. Alopecia areata 19. Erythema multiforme 20. Pemphigus

ENDOCRINE Thyroid stations: Hx presentation:

• Neck lump • Eye problems – diplopia • Heat/Cold intolerance • Tremor • Weight change • Diarrhoea, constipation • Palpitations • Oligomenorrhoea

Examination

• Hands – acropachy, tremor, sweaty • Pulse – tachy/ AF • Eyes – position, chemosis, ophthalmoplegia • Neck exam incl swallowing, LNs, retrosternal goitre and bruit • Reflexes • Proximal myopathy • Pretibial myxoedema

What is Grave’s disease? Autoimmune Dx with TSHR-Abs which hyperstimulate the thyroid and also bind to soft tissues in the orbit, leading to a hyperthyroid state and thyroid eye disease. It is the most common cause of hyperthyroidism. Is it more common in women (5x). The antibodies can also direct. It presents with symptoms of hyperthyroidism such as weight loss, anxiety, tremor, heat intolerance or tachycardia, neck swelling from a diffusely enlarged mildly tender goitre, and Grave’s eye disease, with proptosis, exophthalmos, chemosis and complex ophthalmoplegia. What is the treatment for Grave’s disease? Symptoms can be initially controlled with beta-blockade. I would consider an urgent ophthalmology opinion if there was any visual loss, ophthalmoplegia or inability to close the eyes, and eye lubricants, steroids, tarsorrhaphy or orbital irradiation or decompression. Treatment for Grave’s is through anti-thyroid medications such as carbimazole or propylthiouracil, radioactive iodine therapy, or partial or complete thyroidectomy. All treatments have their downsides; antithyroid drugs cause rash, myopathy, alopecia, agranulocytosis and aplastic anaemia and liver problems, radioactive iodine is contraindicated in pregnancy, iodine allergy, radiation risk (incontinent), solitary nodules and in eye disease which it may worsen, surgery has complications such as vocal cord paralysis and hypoparathyroidism.

Other causes of exophthalmos? Bilateral – Grave’s Dx, cavernous sinus thrombosis, caroto-cavernous fistula (pulsating globe) Unilateral – orbital tumour or cellulitis What are other causes for hyperthyroidism

• Grave’s • Toxic solitary nodule • Toxic multinodular goitre • Overtreatment with thyroxine • Iodine toxicity • Post partum thyroiditis • XS TSH secretion from pituitary function • Amiodarone therapy

Ix for hypothyroidism?

• TFTs – High TSH, low T4 • May be anaemic and hyponatraemic • May have raised CK and cholesterol • ECG – small complex, bradycardia, heart block

Ix hyperthyroidism

• TFTs • TSHR-Abs

Treatment of hypothyroidism? Replacement with L-thyroxine – lifelong. (Complications – if too rapid IHD with MI, Angina, heart failure) What complications of hypothyroidism do you know?

• Cardiac – heart failure, pericarditis/effusion, HTN, IHD, bradycardia, • Neuro – psychosis, pseudodementia, myxoedema coma, carpal tunnel syndrome,

peripheral neuropathy, cerebellar signs

Hashimoto’s thyroiditis Association with Addison’s, Grave’s, Pernicious anaemia, vitiligo, Rheum arthritis, DM, hypoparathyroidism, UC, SLE Ix for multinodular goitre?

• TFTs • US goitre • Radioisotope scan – hot or cold (cold may be malignant) • FNA of cold nodules • If affecting local structures – CT or MRI • Stridor – flow/volume loops

Solitary thyroid nodule?

• Single larger nodule in multinodular goitre • Thyroid adenoma • Toxic ademoma • Thyroid cyst • Thyroid cancer

o Papillary – commonest, young pts, good prognosis o Follicular – elderly, can spread haematologically o Anaplastic – elderly, aggressive, local invasion, poor prognosis o Medullary – young, rare, secrete calcitonin or ACTH o Lymphoma – young

Acromegaly Hx

• Change in hand size • Change in shoe size • Non-fitting dentures • Change in facial features • Systemic features • Tunnel vision/Visual probs • Diabetes • Hypertension • Pains in hands at night or writing - CTS

Ex Hands

• Hands large and wide and doughy • Carpal tunnel release scars or thenar eminence wasting and median nerve sensory

loss • Sweaty

Face

• Supraorbital ridges • Jaw - prognathism • Large Ears and nose • Acne • Macroglossia • Deep voice

Eyes

• VISUAL FIELDS Body

• Kyphosis • Acanthosis nigricans • Skin tags

Say you would:

• Check BP • Cardio Ex • Urine dip for glucose and BM

Ix

• IGF1 - raised • GH levels after OGTT – no suppression in acromegaly • MRI of sella Turcica

• Screen for hypopituitarism – Prolactin, Testosterone, LH, FSH • Visual perimetry • CALCIUM – for MEN1 • Echo • BP • Diabetes • Consider bowel investigations as at higher risk of colonic polyps

What is MEN1?

• Rare , AD, MEN1 gene • Pancreatic tumours • Pituitary tumours • Parathyroid hyperplasia/adenomata

What is MEN 2a?

• RET gene • Medullary thyroid carcinoma • Phaeochromocytoma • Parathyroid hyperplasia

What is MEN 2b? MEN2a plus:

• Marfanoid body habitus • Mucosal neuromata

Causes of macroglossia

• Amyloidosis • Hypothyroidism • Down’s syndrome

Management?

• Surgical if possible – trans-sphenoidal or transfrontal hypophysectomy • Radiation / Bromocriptine / Octreotide

Post-operative complications?

• Meningitis • Diabetes insipidus • Panhypopituitarism

What are the causes of acathosis nigricans?

• Acromegaly • Obesity • T2DM • Gastrointestinal malignancy

Cushing’s Hx:

• Steroid use – what is the reason for steroids??? • Wt gain • Hirsutisn • Easy bruising • Acne • Proximal weakness (up stairs, etc) • Menstrual disturbance • Loss of libido • Depression • Back pain

On examination:

• Moon-like facies • Buffalo hump • Hirsutism • Plethora • Candida • Striae • Obesity • Bruising • Proximal myopathy • Spinal tenderness

If on steroids – examine appropriate system Also:

• BP • Dip urine – glucose • CBG • Visual fields • Fundus – optic atrophy or papilloedema, HTN of DM retinopathy

What are the causes of these features?

• Iatrogenic steroid use • Pituitary adenoma – Cushing’s Disease • Adrenal adenoma • Adrena carcinoma • Ectopic ACTH production from Small cell lung Ca or Medullary Thyroid Ca

Investigations?

• 24 hour free urinary cortisol • Plasma ACTH/Cortisol

• Overnight dexametasone suppression test • CXR? Malignancy • AXR – adrenal calcification • US/CT/MR – adrenal imaging

Treatment for Cushing’s disease?

• Trans-sphenoidal microadenomectomy • Radiotherapy • Bilateral adrenalectomy

EYES Diabetic retinopathy Hx

• Visual changes • Hx DM • Ask about:

o Diagnosis o Control o Treatment o MI, Stroke, Nerve probs, Eye probs, Kidney probs, ulcers

• Clues: CBG meter, white stick, Insulin, Ophthalmoscopy Ex

• Hands for CBG marks • Pulse • Acuity • PERLA • Ophthalmoscopy • Eye movement • Leg ulceration • Peripheral pulses

Offer:

• Peripheral neuropathy • Postural blood pressure

What is non-proliferative retinopathy (Background and pre-proliferative)?

• Micro-aneurysms • Hard exudates • Dot and blot haemorrhages • Cotton wool spots

How to distinguish HTN and DM retinopathy?

• Difficult • DM always has microaneurym formation

Management

• Good glycaemic control • Screening • Ophthalmology referral • (urgent if loss of vision or proliferative changes) • Photocoagulation (reduces angiogenesis)

Other eye probs in diabetes? • Cataracts • Central retinal artery and vein occlusions • Vitreous haemorrhage • Isolated Cranial nerve palsy • Retinopathy

Hypertensive retinopathy Grade 1: Silver wiring Grade 2: AV nipping Grade 3: Cotton wool spots and flame haemorrhages Grade 4: Papilloedema

Retinitis pigmentosa Hx

• Tunnel vision • Night blindness • Hearing loss? • Balance probs • Heart probs

Ex Acuity Fields EOMs Ophthalmoscopy – widespread scattering of black pigments sparing the macula

• ?Hearing loss – Usher syndrome • ?Obesity and polydactyly – Laurence-Moon Syn • ? Cerebellar ataxia, deafness, peripheral neuropathy, cardiomyopathy – Refsum’s

Dx • ?Ophthalmoplegia, bilateral ptosis and ICD (heart block) – Kearn’s Sayre

syndrome • Ataxia – Freidrich’s • Abetalipoproteinaemia

What is it? Genetic disease with rod-cone dystrophy which leads to apoptosis and visual loss. Individuals usually are born with normal vision, only developing symptoms in early adulthood or middle age. Loss of night vision and tunnel vision are the first signs, with relative macular sparing. The disease is a conglomeration of multiple underlying genetic defects with a similar end result, with some associated with systemic genetic conditions with neurological and cardiac problems. There is no cure, and current treatments are poorly effective at slowing disease progression (vitamin A, acetazolamide, omega 3, valproate). Inheritance? AD, AR, X-linked all possible

Ptosis – unilateral or bilateral??? Unilateral:

• Horner’s syndrome • Facial nerve palsy • 3rd nerve palsy

Bilateral (Muscle weakness):

• Myasthenia gravis • Myotonic dystrophy • Guillain Barre syndrome with Miller Fisher variant • Fasciomusculoscapular dystrophy • Kearn’s Sayre syndrome (Retinitis pigmentosa, Ophthalmoplegia, bilateral ptosis

and • ICD (heart block)

History for unilateral: Horner’s: Dry face, shoulder, neck or chest pain, smoker, weight loss, cough, neck surgery Bell’s/stroke: Timing and onset, any arm/leg movement problems, any speech probs, viral prodrome, travel to Lyme country, ear pain or rash 3rd nerve: Sudden? Headache at time, double vision, head injury, diabetes, hypertension, PMHx Examination for unilateral: Hands:

• Inflammatory Dx, CBG scars, wasting of small muscles of the hand, tar stains • Neck for scars/masses • Face – asymmetry? Sweating • Pupils – PERLA, RAPD • EOMs • Ear – Ramsey hunt syndrome • Other CN changes • Offer Ophthalmoscopy – raised ICP? • Examine chest apices in Horner’s

History for bilateral:

• How long? Sudden, gradual • Any medical conditions • Any fatiguability • Visual probs • Double vision – when? • Heart probs • Anyone in family affected

Examination for bilateral?

• Hands – peripheral wasting, myotonic grip, percussion myotonia, peripheral weakness

• Shoulder girdle weakness • Facies, frontal balding, cataracts • EOM with fatiguability (prolonged upgaze and counting down from 100) • PERLA • Facial movements • LOOK FOR THYMECTOMY SCAR!!! • Winged scapula • To complete: SPIROMETRY!!! ASCENDING WEAKNESS!!!

Horner’s Unilateral ptosis

• Small pupil (if large 3rd nerve) • Normal light reflexes (if not 3rd nerve) • Normal EOMs (If fatiguiability and EOMs – MG) • Examine neck, supraclavicular area • Examine for wasting and sensory loss in the hands • Look for clubbing and tar staining • Look for brainstem signs – nystagmus, cerebellar signs, CNs

Miosis – small pupil that does not dilate on shading. Ptosis – mild Anhidrosis – ONLY if proximal to fibre separation along the internal and external carotids. Site can be:

• Brainstem – vascular, neoplastic, syringobulbia • C-spine • C8,T1 lesion – brachial plexopathy • Cervical sympathetic chain – pancoast lesion • Internal carotid artery – trauma, dissection, aneurysm • Middle fossa

• Can also be congenital, often with an unpigmented iris

Cocaine instillation will cause dilatation in pre-ganglionic lesions as the neurons are intact and leak norad who’s uptake is inhibited. Ix – CXR, CT Head/Vasculature.

Homonymous hemianopia Hx:

• Sudden? Unaware? • Accident

Ex:

• Any part of my face missing? • Inattention • Visual acuity • Fields • Fundoscopy • Full neuro

Where is the lesion?

• Past the optic chiasm (near the chiasm it may be incongruous) What could cause it?

• Vascular • Demyelinating • SoL

Bitemporal hemianopia Hx:

• Tunnel vision, accidents • Signs of pituitary disease

Ex:

• Visual fields • Macular involvement • Signs of hypopituitarism – pale skin, paucity of hair, testicular/breast atrophy,

optic atrophy • Acromegaly?

Causes:

• Pituitary tumour (upper fields affected first) • Craniopharyngioma (lower first) • Suprasellar meningioma • Aneurysm, Glioma

Central scotoma Hx:

• A hole whilst reading Ex:

• Anything missing on my face? • Red pin – map out scotoma and blind spot • Fundoscopy? • Pale disc – optic atrophy • Normal – retrobulbar neuritis • Swollen, pink – papillitis

Causes:

• Demyelinating • Optic nerve compression • Glaucoma • Toxins – methanol, tobacco • Ischaemic • Hereditary – Freidrich’s ataxia, Leber’s optic atrophy • Vit B12

Tunnel vision Optic atrophy – visual loss, Hx MS or glaucoma, Optic nerve tumour, B12 def, Retinitis pigmentosa – decreased night vision, peripheral vision loss, blurring Choroidoretinitis – HIV, Sarcoid, TB

RHEUMATOLOGY Systemic lupus erythematosis Examination:

• Rash • Telangectasia • Vasculitic phenomena • Cushingoid features to suggest LT steroids

Drug induced lupus: hydralazine, procainamide, isoniazid Anti-histone positive NEVER involve brain or kidney Criteria for SLE

1) Malar rash 2) Discoid lupus 3) Photosensitivity 4) Oral ulcers 5) Arthritis 6) Serositis (Pleuritis/Pericarditis) 7) Renal disorder : Proteinuria >500 mg/d or cellular casts 8) Neurological disorder 9) Haematological disorder 10) Immunological disorder : anti dsDNA, anti Smith Ab, ACA/LA, false positive VDRL 11) ANA

Need 4 out of 11 criteria Investigations for activity – C3,4 and ESR, CRP

Rheumatoid arthritis Hx?

• Arthritis/pains • New swollen joint • SoB • Infections • Any hearing problems

Ex

• Hands – peripheral symmetric deforming polyarthropathy involving MCP and PIP joints with ulnar deviation, MCP subluxation, wasting of the small muscles of the hand.

• Examine for active synovitis • Look for any psoriatic nail changes or skin lesions • Look for nodules • Assess functional state – buttons are good • Look for Cushingoid features • Examine chest for LZ fibrosis • Examine abdo for splenomegaly – Felty’s

Presentation:

• Describe what you see • Describe deformities • Describe active or quiescent disease • Functional ability • Extra-articular features seen

Diagnostic Classification of RA? American Rheumatism Association 7 criteria – 4 or more is highly suggestive of the diagnosis

• RhF positive • Typical XR findings • Early morning stiffness • 3+ joints • Involvement of PIPs and MCPs • Symmetry • Rheum nodules

What are the extra-articular features of RA?

• Resp – effusions, nodules, fibrosis (disease or MTX)

• Cardio – effusions or pericarditis

• Neuro – Mononeuritis multiplex, sensory polyneuropathy, CTS

• Ophth – Scleritis, episcleritis, scleromalacia perforans, keratoconjunctivitis sicca

• Renal – Amyloid, nephropathy (drugs)

• Other – Rheum nodules, fatigue, anaemia, OP, depression, vasculitic skin changes Causes of anaemia in RA?

• Anaemia of chronic disease • Haemolytic anaemia • Aplastic anaemia/BM suppression from drugs e.g. methotrexate • Iron deficiency anaemia from gastritis due to NSAIDs • Hypersplenism with anaemia from Felty’s syndrome • Associated pernicious anaemia • Anaemia from amyloid renal disease

What is Felty’s syndrome?

• Splenomegaly, Rheum arthritis (RhF positive) and neutropenia Investigations for RA?

• FBC, U&Es, LFTs prior to Rx • RhF – IgM autoantiblody against Fc portion of IgG – always postive if nodules,

Felty’s or vasculitis • Anti-CCP – about as sensitive, but more specific • XRs • Aspiration of synovial fluid – Turbid, raised protein, raised WCC, normal or low

glucose, culture negative • Consider XRs of neck if subluxation considered

Management of RA?

• Calculate DAS-28 – number of joints inflamed or tender and ESR • MDT approach – PT/OT • Medical – NSAIDs and DMARDs (MTX or Sulfasalazine, however

hydroxychloroquine is particularly useful for palindromic disease) • Monitor DAS • Consider Biologicals – antiTNF – Adalimumab, Ertanacept or Infliximab (or IL1

– anakinra) – now used early in step-down approach

Precautions before starting antiTNFs?

• Prev TB – PMHx and CXR, consider Mantoux or TB Elispot also • HIV, Hep B and C • Baseline bloods • Exclude active infection • Consider Echocardiogram (brady and heart failure in Infliximab therapy)

What is Caplan’s syndrome?

• Massive pulmonary fibrotic nodules due to coal worker’s pneumoconiosis in the presence of seropositive rheumatoid arthritis

Predictors of worse prognosis?

• Strongly rheumatoid factor positive 1:512 • Number of joints at presentation • Extra-articular disease • Disability at presentation • Early joint erosions • High inflammatory markers • Disease not controlled after 12 months

Radiological changes?

• Soft tissue swelling • Joint space narrowing • Erosions • Cyst formation • Joint destruction • Subluxation and dislocations

Psoriatic arthropathy Examination:

• The 5 patterns – asymmetrical with DIPs and deformities typical • Nail pitting, onycholysis • Hyperkeratosis • Psoriatic plaques

o Elbows o Hairline o Ears o Navel o Extensors

What are the 5 types?

• RA-like • Asymmetrical DIP arthropathy • Asymmetrical large joint Oligoarthropathy • Ankylosing spondylitis- like • Arthritis mutilans

Treatment for skin?

• Sunlight, UV light, PUVA • Calcipotriol • Coal tar • Dithranol • Local steroids

Systemic treatment?

• Acitretin • MTX, Sulfasalazine, Hydroxyurea • NSAIDs

Radiological findings?

• Fluffy periosteitis • Small joint destruction • Pencil in cup appearance

Osteoarthritis DDx – RHEUM/OA/PSORIASIS/CRYSTALs Hx:

• Worsening joint pain • How long? Which joints? When worst? • Any joint probs in past • Any rashes • Any FHx • Morning stiffness • Functional limitation

Examination: Hands:

• Nails – Psoriatic changes? • Herberden’s nodes – DIPs • Bouchard’s nodes – PIPs • Squaring of thumb - 1st CMC – likely OA • Any synovitis or crepitus • Finger movements esp: pincer grip • Wrist movements? • CTS scars • Examine exposed joints – elbows, knees • Rash and nodules – elbow • Rash or tophi – ears • Rash on umbilicus • Neck movements • FUNCTIONAL STATUS – BUTTONS

What are the XR changes of OA?

• Joint space narrowing • Subchondral sclerosis • Osteophytes • Subchondral cysts

Ankylosing spondylitis History:

• Back pain – worse with immobility or lying or sitting • Better on exercise • Morning stiffness > 1 hour • Shoulder and knee involvement • Ask about ADLs

Examination:

• Loss of lumbar lordosis and fised thoracic kyphosis, with compensated C spine extension.

• Head turns to side, body turns en-block. • Decreased chest expansion with prominent abdominal breathing. • Schrober test of lumbar flexion. • Distal arthritis

Extra places to look: • Eye – Iritis • CV – AR and MVP • Chest – Apical fibrosis • Heel pain with Achilles tendonitis • Dactylitis – joint and finger swelling • Amyloidosis – renal/gut involvement

DDx: • Look for scars on abdomen (IBD) • Look for psoriasis (Psoriatic)

What is it? Inflammatory arthropathy characterised by sacroiliitis and enthesopathy of spine and tendons. Leads to significant spinal deformity. Characterised by HLA B27 positivity, commoner in males. May be part of another enthesopathy syndrome (reactive, psoriatic, enteropathic) Diagnostic criteria

• Inflammatory pain + • Sacroiliitis • Alternating buttock pain • FHx • Psoriasis • IBD

The spondyloarthropathies:

• Ank Spond • Psoriatic • Reactive • Enteropathic

Sarcoidosis Presentation:

• SoB • Skin lesions

History:

• Skin lesions – time course, pain, itching • Eye involvement – uveitis, optic neuropathy • Neuro – seizures, weakness, meningitis • Cardio • Arthralgias • Kidney problems • Sweats/ Fatigue • Bowel problems

Previous diagnoses?

• Previous Ix? • DHx? Previous Drugs incl. ABx, OCP • PMHx? – Rheumatic fever, Sarcoidosis, streptococcus infection, TB

Examination: Skin lesions

• All over body • Lupus pernio • Erythema nodosum • Nodules • Scar infiltration • Plaques

• LNs – lymphoma • Eyes – uveitis • Parotid enlargement • Lung fibrosis

SKIN Pseudoxanthoma elasticum What is it? A genetic condition which causes abnormal mineralisation of connective tissues, with dermatological, cardiac, ophthalmic and GI sequelae. Tell me more. It is an autosomal recessive condition where calcium mineralisation occurs on elastin fibres in the skin, eyes and mid-sized arteries. It first manifests with the yellowish, raised plaques on the skin of the axillae and neck, as well as the antecubital fossa, groin and umbilicus. Ophthalmic complications include peau d’orange retina and angioid streaks, and may progress to severe retinal haemorrhages compromising vision. Cardiac manifestations include aortic regurgitation and coronary artery disease. GI bleeding is more common in these patients. History?

• GI bleeds? • Visual problems • Cardiac symptoms

What will you do?

• Examine neck, axillae, antecubital fossa and umbilicus. • Feel peripheral pulses. • Auscultate for MR, MVP, AR • Ask about GI bleeds • Ask about vision • Check vision • Ophthalmoscopy

Tuberous sclerosis TSC 1 and 2

• Non-malignant tumours - hamartias, hamartomas, rarely malignant. • 50% learning difficulties • Brain tumours - learning difficulties, seizures, hydrocephalus • Benign kidney neoplasms - haemorrhage/haematuria • Lungs - LAM (lymphangioleiomyomatosis) • Heart - rhabdomyomas • Skin - Facial angiofibromas - adenoma sebaceum • Nails - periungual fibrosis • Ashleaf spots - trunk - hypomelanic macules • Shagreen patches - dippled leathery skin patches • Eyes - retinal hamartomas

AD with variable expressivity History?

• Headache/seizure with tumour • Haematuria • SOB

To examine:

• Nails • Skin • Face and eyes (incl Ophthalmoscopy) • Lungs • Feel for kidneys

Hereditary haemorrhagic telangectasia Hx

• SoB with failure or anaemia • Bleeding – nose, PR

Ex

• Multiple telangectasia on face • Look on earlobe, in mouth and on lips, as well as arms, nails and trunk • Look for anaemia • Look for cyanosis or clubbing (lung AVMs) • Look for evidence of heart failure • Listen for lung or hepatic bruits (AVMs) • Offer PR for melaena

Genetic – Auto Dominant AKA Rendu-Osler-Weber Disease Mx:

• Cautery • Oestrogen therapy • Ligation or embolisation of AVMs • Genetic counselling

Neurofibromatosis DDx criteria

• Café au lait spots 6+ • Axillary freckling • Neurofibromas • Lisch nodules • Optic glioma • FHx

Problems:

• Learning difficulties • Childhood leukaemia • Acoustic neuromata • Kyphosis • Hypertension from Phaeo or RA stenosis

Type 1 – von Recklinghausen’s disease Type 2 – bilateral hearing loss or acoustic neuromas

Erythema nodosum Causes:

• Idiopathic/ unknown • Sarcoidosis • Streptococcal infection • Tuberculosis • Infections other than TB or strep - HIV... • Pregnancy or oral contraceptives • Drugs other than OCAs • Inflammatory bowel disease • Behcet's disease

HIV related problems? Hx? Rash? – Seborrhoeic dermatitis, drug rash, syphilis, Kaposi’s sarcoma Lumps? – KS, lymphoma, PGL Jaundice? – Hepatitis co-infection, Drugs Mouth problems? – Candida, OHL Ask about When diagnosed CD4 and VL On treatment – adherent? On prophylaxis Any OIs? Any Cancer?

Marfan’s Syndrome Autosomal dominant defect in fibrillin, a molecule in fibroblasts. Examination:

• Arm span > height • Arachnodactyly – hypermobile • High arched palate • Long face • Bluew sclera • Underdeveloped musculature • Pectus excavatum • Kyphoscoliosis • Pneumothoraces • MVP • AR • Aortic root dilatation • Aneurysm • Herniae • Lens dislocation

Referral:

• Ophth • Echo • Genetic analysis

OTHER Subclavian steal Subclavian stenosis proximal to the origins of the vertebral arteries. If blood requirements rise in the arm, there will be relative hypoperfusion of the posterior circulation with associated symptoms. Hx

• Vertigo • Syncope • Transient loss of vision • Diplopia • Olfactory hallucination

These may occur with exercise of the arm Ex

• Weaker pulse unilaterally • Subclavial bruit • Other evidence of peripheral vascular disease