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QUB IMS Rheumatology – Autoimmune Rheumatic Disease & Vasculitis Owen McClementsOverview • Autoimmune rheumatic diseases: • Other conditions not covered: • Systemic lupus erythematosus • Non-ANCA associated vasculitides (e.g. polyarteritis nodosa, Takayasu’s • Sjögren’s syndrome • Systemic sclerosis (scleroderma) arteritis, Henoch-Schönlein purpura) • Adult onset Still’s disease • Polymyositis & dermatomyositis • Behçet’s syndrome • Sarcoidosis • Fibromyalgia • Polymyalgia rheumatica • Marfan syndrome • Vasculitis: • Ehlers-Danlos syndrome • Giant cell arteritis • Osteogenesis imperfecta • ANCA associated vasculitidesCase 1 • Claire is a 28 year old woman who attends rheumatology outpatients with a 1 year history of generalised fatigue and arthralgia. She has also recently noticed that her hair has started to thin and her cheeks appear constantly flushed, which is causing her significant distress • What is the most likely diagnosis? • A – Rheumatoid arthritis • B – Systemic sclerosis • C – Fibromyalgia • D – Systemic lupus erythematosus • E – Iron deficiency anaemiaCase 1 • Claire is a 28 year old woman who attends rheumatology outpatients with a 1 year history of generalised fatigue and arthralgia. She has also recently noticed that her hair has started to thin and her cheeks appear constantly flushed, which is causing her significant distress • What is the most likely diagnosis? • A – Rheumatoid arthritis • B – Systemic sclerosis • C – Fibromyalgia • D – Systemic lupus erythematosus • E – Iron deficiency anaemiaSystemic Lupus Erythematosus (SLE) • Multi-system autoimmune condition Clinical Features: • Multiple aetiologies (genetic, environmental, hormonal, iatrogenic) • More common in young women (90%) • More common in patients from Asian or African ethnic backgrounds Butterfly (malar) rash • Varying clinical presentation depending on affected organ systems Lupus nephritis Livedo reticularis Raynaud’sSystemic Lupus Erythematosus (SLE) Other Features of SLE Investigations: • Neurological (seizures, • Routine bloods (FBC, U&E, LFTs), headache, psychosis) ESR, CRP • Haematological (anaemia, • Autoimmune bloods: lymphopenia, • ANA (sensitive) thrombocytopenia); increased • Anti-dsDNA (specific) risk of lymphoma • Anti-histone (drug-induced lupus) • Raynaud’s phenomenon • Complement (C3, C4) • Rheumatoid factor • May be associated with other • Antiphospholipid / lupus anticoagulant autoimmune conditions (e.g. Sjögren’s, thyroiditis, • Urine dipstick haemolytic anaemia, antiphospholipid syndrome) • Skin / kidney biopsy Systemic Lupus Erythematosus (SLE) Diagnosis Management • American College Rheumatology, 4 out of 11 • Avoid sunlight / use sun cream criteria (BUDAPEST AIR): st • Hydroxychloroquine 1 line (ensure yearly • Butterfly rash retinal screening due risk of maculopathy) • Ulcers • Discoid lupus • Steroids / NSAIDs (useful in acute skin / joint pain flares) • Arthralgia • Steroid sparing agents (e.g. azathioprine, • Pleurisy / pericarditis methotrexate, mycophenolate, • Exposure to sunlight (photosensitivity) cyclophosphamide) • Seizures • Biologics (e.g. belimumab, rituximab) • Thrombocytopenia / other haematological issues • Management of complications: • ANA positive • Lupus nephritis – BP control, steroids, DMARDs • Immunological – anti-DNA, anti-Smith / (mycophenolate, cyclophosphamide) antiphospholipid antibodies • Renal disease (glomerulonephritis, proteinuria) • Raynaud’s – conservative, nifedipine, vasodilatorsCase 1 Continued • Claire is diagnosed with systemic lupus erythematosus and is commenced on the first line treatment for induction of remission and disease maintenance. • What screening test is most appropriate to carry out in order to monitor the development of side effects from said treatment? • A – OGD • B – DEXA scan • C – Retinal screening • D – U&E • E – Coagulation profileCase 1 Continued • Claire is diagnosed with systemic lupus erythematosus and is commenced on the first line treatment for induction of remission and disease maintenance. • What screening test is most appropriate to carry out in order to monitor the development of side effects from said treatment? • A – OGD • B – DEXA scan • C – Retinal screening • D – U&E • E – Coagulation profile Hydroxychloroquine ‘bulls eye’ maculopathyCase 2 • Joan is a 62 year old lady who presents to her GP with a recurrent gritty sensation in both her eyes. On examination of her eyes, no foreign bodies are visualised, but there is reduced tear film. She also mentions that she has been feeling more run down recently and is experiencing pain during intercourse with her husband. • What is the most likely diagnosis? • A – Systemic sclerosis • B – Sjögren’s syndrome • C – Anterior uveitis • D – Viral conjunctivitis • E – Behçet’s syndromeCase 2 • Joan is a 62 year old lady who presents to her GP with a recurrent gritty sensation in both her eyes. On examination of her eyes, no foreign bodies are visualised, but there is reduced tear film. She also mentions that she has been feeling more run down recently and is experiencing pain during intercourse with her husband. • What is the most likely diagnosis? • A – Systemic sclerosis • B – Sjögren’s syndrome • C – Anterior uveitis • D – Viral conjunctivitis • E – Behçet’s syndromeSjögren’s Syndrome • Autoimmune condition affecting exocrine Investigations: glands (e.g. lacrimal, salivary, sweat), results fibrosis & reduced secretions • Routine bloods, ESR, IgG • May be primary or secondary (e.g. SLE, • Autoantibodies – anti-Ro, anti-La RA) • Schirmer’s test – filter placed against eye • More common in women • May carry out sialometry & parotid gland biopsy • Increased risk of developing lymphoma Management: Clinical Features: • Conservative / symptomatic e.g. NSAIDs for • Dry eyes (keratoconjunctivitis sicca) joint pain • Dry mouth (xerostomia) • Artificial saliva & tears • Vaginal dryness • Pilocarpine (muscarinic agonist) promote • Swelling of parotid gland saliva & tear secretion • Arthritis, myalgia, fatigue • Ensure good dental hygiene (regular check- • Raynaud’s phenomenon ups)Case 3 • Geraldine is a 52 year old lady who presents to her GP with a 1 year history of pain in her hands; she reports that in the cold, the tips of her fingers turn white and then blue. On examination, white ulcerated areas are seen on her fingertips and the skin on her palms is thickened. She also mentions that she has found swallowing progressively difficult. • What is the most likely diagnosis? • A – Raynaud’s phenomenon • B – Behçet’s syndrome • C – Rheumatoid arthritis • D – GORD • E – Systemic sclerosisCase 3 • Geraldine is a 52 year old lady who presents to her GP with a 1 year history of pain in her hands; she reports that in the cold, the tips of her fingers turn white and then blue. On examination, white ulcerated areas are seen on her fingertips and the skin on her palms is thickened. She also mentions that she has found swallowing progressively difficult. • What is the most likely diagnosis? • A – Raynaud’s phenomenon • B – Behçet’s syndrome • C – Rheumatoid arthritis • D – GORD • E – Systemic sclerosis Systemic Sclerosis (Scleroderma) • Autoimmune condition Clinical Features: characterised by inflammation • Limited – limited initial skin and fibrosis of connective involvement, CREST syndrome: tissues & endothelial cells • Calcinosis cutis • Raynaud’s phenomenon • 2 main types – limited & • Oesophageal dysmotility • Sclerodactyly diffuse • Telangiectasia Telangiectasia • Diffuse – diffuse initial skin involvement; can also have CREST features, alongside other complications • Arthralgia also common in patients Calcinosis cutis Sclerodactyly with systemic sclerosisSystemic Sclerosis (Scleroderma) Investigations: Management: • Routine bloods, ESR • Symptomatic, e.g. nifedipine & hand warmers • Autoantibodies: (Raynaud’s), analgesia (arthralgia), PPI (reflux), steroids • Anti-centromere (limited) • Anti-Scl-70 (diffuse) • Vasodilators – endothelin receptor • ANA (non-specific) antagonists (e.g. bosentan), sildenafil, IV iloprost (prevention of pulmonary Complications: hypertension & digital ulcers) • Pulmonary – pulmonary hypertension, ILD • Patients should attend for regular screening, • Cardiac – CAD, cardiomyopathy, e.g. U&E, PFTs, ECG, echo hypertension • Renal crises managed with ACE inhibitors • Renal – glomerulonephritis, acute renal crises • DMARDs (e.g. methotrexate) & biologics (e.g. • GI – malabsorption rituximab) used in diffuse diseaseCase 3 Continued • Geraldine presents to A&E 2 years after being diagnosed with systemic sclerosis feeling generally unwell. Her BP is measured at 180/135 and she is complaining of blurry vision and an incredibly painful headache. Urinalysis reveals 3+ of protein and a serum creatinine comes back grossly elevated. • Based on her current presentation, what is the most appropriate management? • A – IV fluids • B – Ramipril • C – Renal replacement therapy • D – IV steroids • E – AnalgesiaCase 3 Continued • Geraldine presents to A&E 2 years after being diagnosed with systemic sclerosis feeling generally unwell. Her BP is measured at 180/135 and she is complaining of blurry vision and an incredibly painful headache. Urinalysis reveals 3+ of protein and a serum creatinine comes back grossly elevated. • Based on her current presentation, what is the most appropriate management? • A – IV fluids • B – Ramipril • C – Renal replacement therapy • D – IV steroids • E – Analgesia Gescleroderma renal crisisaCase 4 • James is a 57 year old male who presents with a 3 month history of a purple rash located on both eyelids and the extensor aspects of his MCPs and PIPs. He also mentions that he is having problems with arm movements and feels they are incredibly weak. On examination, he is found to have grade 3 power in shoulder abduction and elbow flexion / extension • What is the most likely diagnosis? • A – Dermatomyositis • B – SLE • C – Psoriatic arthritis • D – Cutaneous vasculitis • E – Polymyalgia rheumaticaCase 4 • James is a 57 year old male who presents with a 3 month history of a purple rash located on both eyelids and the extensor aspects of his MCPs and PIPs. He also mentions that he is having problems with arm movements and feels they are incredibly weak. On examination, he is found to have grade 3 power in shoulder abduction and elbow flexion / extension • What is the most likely diagnosis? • A – Dermatomyositis • B – SLE • C – Psoriatic arthritis • D – Cutaneous vasculitis • E – Polymyalgia rheumaticaPolymyositis & Dermatomyositis • Inflammatory disorder affects muscles Investigations: (polymyositis) +/- skin involvement • Routine bloods Heliotrope (dermatomyositis) • Autoantibodies – anti-Jo-1 rash Clinical Features: • CK • Proximal muscle weakness • EMG • Heliotrope rash • Muscle biopsy (confirm diagnosis) • Gottron’s papules • Pulmonary (e.g. CXR, PFTs, CT chest) • Paraneoplastic screen (potentially) • ‘Mechanic’s hands’ Mechanic’s Gottron’s Management: • Raynaud’s phenomenon papules hands • Other features relate to specific muscle • Steroids involvement, e.g. cardiac, pulmonary, • DMARDs (e.g. methotrexate, azathioprine, mycophenolate), biologics oesophageal; interstitial pneumonitis • Hydroxychloroquine used for skin involvement in dermatomyositisCase 5 • Louise is a 20 year old female who presents to her local GUM clinic with a 4 month history of recurrent genital ulcers. She denies any sexual activity and all STI swabs & PCRs come back negative. She has also noticed some joint pain and on examination, multiple ulcers are seen in the oral cavity. • What is the most likely diagnosis? • A – Vitamin B12 deficiency • B – Chronic genital HSV-2 infection • C – Inflammatory bowel disease • D – Behçet’s syndrome • E – SLECase 5 • Louise is a 20 year old female who presents to her local GUM clinic with a 4 month history of recurrent genital ulcers. She denies any sexual activity and all STI swabs & PCRs come back negative. She has also noticed some joint pain and on examination, multiple ulcers are seen in the oral cavity. • What is the most likely diagnosis? • A – Vitamin B12 deficiency • B – Chronic genital HSV-2 infection • C – Inflammatory bowel disease • D – Behçet’s syndrome • E – SLEBehçet’s Syndrome Clinical Features: Investigations: • Ulceration (oral, genital) • Mainly clinical diagnosis, no specific • Skin signs (e.g. nodules erythema nodosum) antibody • Arthritis • Skin pathergy test (pricking skin causes erythema and induration); non-specific • Vascular disease (e.g. Management: aneurysms, DVT) • GI bleeding (secondary to • Topical steroids mouth ulcers ulcers) • Systemic steroids (PO prednisolone) • Neurological symptoms (e.g. aseptic meningitis) • Topical anaesthetics genital ulcers (e.g. • Ophthalmological signs lidocaine) (e.g. uveitis) • Immunosuppressants / biologicsCase 6 • Martha is a 65 year old female who presents to her GP with a 1 year history of constant fatigue and pain in her shoulders and hips. She describes particular difficulty getting out of bed in the morning. Physical examination reveals grade 5 power in shoulder abduction and hip flexion, with restricted movement due to pain and stiffness • What is the most likely diagnosis? • A – Osteoarthritis • B – Polymyalgia rheumatica • C – Rheumatoid arthritis • D – Polymyositis • E – Adhesive capsulitisCase 6 • Martha is a 65 year old female who presents to her GP with a 1 year history of constant fatigue and pain in her shoulders and hips. She describes particular difficulty getting out of bed in the morning. Physical examination reveals grade 5 power in shoulder abduction and hip flexion, with restricted movement due to pain and stiffness • What is the most likely diagnosis? • A – Osteoarthritis • B – Polymyalgia rheumatica • C – Rheumatoid arthritis • D – Polymyositis • E – Adhesive capsulitisPolymyalgia Rheumatics • Inflammatory disorder characterised Investigations: by pain & stiffness in proximal • Routine bloods muscles (neck, shoulder & pelvic) • ESR, CRP • Stiffness classically worse in the • No autoantibodies associated morning and after rest • Rule out other differentials – CK, bone profile, • Other symptoms – fever, fatigue, anti-CCP / RF, ANA, urine Bence-Jones protein anorexia, weight loss • USS • More common in older patients (> Management: 50 yrs) • Low-moderate dose steroids (15 mg • Association with giant cell arteritis prednisolone); usually dramatic improvement • Reducing regime • Condition usually self-limiting but can relapseCase 6 Continued • Martha presents to eye casualty 6 months with a sudden onset left sided headache that came on gradually this morning and has become worse since. She found it hard to continue eating her breakfast and noticed some blurring of her vision. Examination reveals a tender scalp and direct fundoscopy reveals a swollen left optic disc • What is the most important step in her management? • A – Admission to the neurosurgical unit • B – Urgent CT head • C – High dose IV steroids • D – Routine referral to ophthalmology outpatients • E – Reassure and discharge with topical NSAID gelCase 6 Continued • Martha presents to eye casualty 6 months with a sudden onset left sided headache that came on gradually this morning and has become worse since. She found it hard to continue eating her breakfast and noticed some blurring of her vision. Examination reveals a tender scalp and direct fundoscopy reveals a swollen left optic disc • What is the most important step in her management? • A – Admission to the neurosurgical unit • B – Urgent CT head • C – High dose IV steroids • D – Routine referral to ophthalmology outpatients • E – Reassure and discharge with topical NSAID gelGiant Cell (Temporal) Arteritis • Medium-large vessel vasculitis Investigations: ‘Halo sign’ • Associated with polymyalgia rheumatica • Routine bloods Clinical Features: • ESR, CRP • Headache, scalp tenderness • Doppler USS temporal artery – ’halo sign’ • Visual disturbance (amaurosis fugax) • Temporal artery biopsy (gold standard) – granulomatous inflammation • Jaw claudication Management: • Polymyalgia • PO prednisolone (40–60 mg) • Weight loss, fever • IV methylprednisolone (if visual loss occurs) • Fundoscopy shows swollen optic • Reducing dose regime (some patients will require disc and ischaemic optic neuropathy long term steroids) • Temporal artery may be thickened & have • Co-prescribe PPI & bisphosphonate a weak / absent pulse • Low dose aspirin may also help reduce stroke risk and vision lossANCA-Associated Vasculitis • Vasculitis – inflammation of • Granulomatosis with polyangiitis (GPA): blood vessel walls; systemic • c-ANCA +ve manifestations, categorised • Nasal discharge, bleeding & saddle deformity based on vessel size • Lung nodules & haemorrhage • Glomerulonephritis • ANCA (anti-neutrophil • Eosinophilic granulomatosis with cytoplasmic antibody) polyangiitis (EGPA): associated vasculitis is a variety of small vessel • p-ANCA +ve • Asthma, nasal polyps, allergic rhinitis vasculitis • Peripheral eosinophilia • 3 main subtypes, can either • Microscopic polyangiitis (MPA): cytoplasmic (c-ANCA) or • p-ANCA +ve peripheral (p-ANCA) positive • Similar to GPA with pulmonary and renal manifestations; may skin & neuro signs • No granulomatous inflammation on biopsyFurther Information Side Effects of Corticosteroid Therapy Systemic Features of VasculitisResources • Zero to Finals Rheumatology • Medicine in a Minute • Rheumatology Lectures (QUB Year 3 Portal) If you have any other questions, feel free to email me: omcclements02@qub.ac.uk