Rheumatology Flashcards
Autoantibodies in SLE
- ANA
- dsDNA (high spec, varies with severity)
- Nucleosome (high spec)
- Ro (Sjogren’s)
- La (Sjogren’s)
- Sm (high spec)
- U1RNP
- rNP
- Histone (Drug induced)
- Antiphospholipid
What is the epidemiology of SLE?
Female
Black > Asian > Caucasian
Rare 4/100,000/yr
Body systems affected by SLE
Constitutional symptoms Dermatological Musculoskeletal Cardiovascular Respiratory Neurological Renal Haematological
General/Constitutional symptoms in SLE
Fatigue Anorexia Weight loss Low grade fever Lymphadenopathy Serositis (pleural/pericardial)
Musculoskeletal symptoms of SLE
- Arthralgia (90%)
- Synovitis
- Effusions
- Morning stiffness
- Jaccoud’s arthropathy - Myalgia
- Tenosynovitis
- Osteoporosis
Clinical course of SLE
- Unpredictable
- Acute flares
- Periods of apparent remission
- Long periods of subclinical inflammatory activity
Dermatological manifestations of lupus
Malar Rash Oral ulcers Raynaud's phenomenon Discoid lupus Non and Scarring alopecia Purpura/vasculitic lesions Livedo reticularis (APL abs) Bullous lupus Toxic epidermal SLE Maculopapular lupus rash
Cardiovascular manifestations of lupus
Pericarditis Myocarditis Heart block Pericardial effusion Libman Sacks Endocarditis Increase IHD risk
Renal manifestations of lupus
Glomerulonephritis (often severe)
Neurological manifestations of lupus
Headache (migraine/BIH/HTN) Acute confusional state/Psychosis Transverse myelitis Mononeuritis multiplex Peripheral/cranial neuropathy Seizures Anxiety/depression Stroke
Respiratory manifestations of lupus
Pleural effusions Pleurisy Shrinking lung syndrome Interstitial fibrosis/pneumonitis Pulmonary HTN
Haematological manifestations of lupus
Anaemia -Haemolytic -Of chronic disease Lymphopenia Thrombocytopenia
Autoimmune conditions associated with SLE
Sjogren's Antiphospholipid syndrome Thyroid disease RA MG DM Pernicious anaemia
Gastrointestinal manifestations of lupus
Abdo pain Nausea Intestinal vasculitis Hepatitis Pancreatitis
Drugs causing lupus
Hydralazine Minocycline TNF alpha biologics (infliximab) Lithium Anticonvulsants Isoniazid
What is systemic sclerosis
Spectrum of disorders with
- Skin Sclerosis
- Raynaud’s
Spectrum:
- Localised cutaneous scleroderma
- Systemic Sclerosis
- -LimIted cutaneous (formerly CREST)
- -Diffuse cuteanous - Raynaud’s Phenomenon
- -Autoimmune
- -Primary
Autoantibodies/Complement/Immunoglobulins in systemic sclerosis
Diffuse cutaneous
- -Scl-70 (anti-topoisomerase)
- -Anti RNA polymerase III (RNAP)
Limited cutaneous:
–Anti-centromere
Hypergammaglobulinaemia
Reduced complement
What is the pathogenesis of systemic sclerosis
Vascular abnormalities - endothelial cell injury and increased ECM in vessel wall
Connective tissue fibrosis
- Fibrogenic fibroblasts
- increased ECM - disrupts tissue architecture
What are the clinical features of localised cutaneous scleroderma
“Morphoea”
- -Localised: 1 or more skin lesions - often trunk
- -Generalised: without raynaud/viscera involvement
- -En coup de sabre - midline lesion in childhood defect
- -Linear - dermatomal distribution, childhood
What are the clinical features of limited cutaneous systemic sclerosis?
C alcinosis R aynauds (usually precedes other symptoms by years) E sophageal dysmotility S cleroderma: face/neck/hands T elangiectasia
Other viscera involvement:
Lung
Renal
Heart
What are the clinical features of diffuse cutaneous systemic sclerosis
- Presents abruptly with skin changes over 1-3y
- Pruritus
- Constitutional (lethargy, weight loss)
- Scleroderma: trunk, acral, pigment change
- Raynaud’s - develops later
Visceral disease:
- Oesophagus
- Lungs (fibrosis, PAH)
- Renal crisis (HTN, headache)
- Heart
What is the classification of Raynaud’s phenomenon?
- Autoimmune
- Antibodies (RA, SLE, Sclerosis, myositis)
- Abnormal nailfold - Primary
- Normal Antibodies and capillaroscopy
What is the differential of Raynaud’s?
- Raynaud
- Haematological
- –Cryoglobulinaemia
- –Cold agglutinin disease
- –Hyperviscosity syndrome
- Macrovascular disease
- Vasculitis
How are the viscera effected in sclerosis?
Respiratory
- Fibrosis (NSIP)
- PAH
- Pleural disease (effusions/pleurisy)
GI
- Mouth - tight skin, sicca
- Oesophagus - dysmotility, spasm, strictures
- Stomach - gastroparesis
- Bowel - hypo motility, stasis, volvulus
- Anus - incontinence
Cardiac
- Fibrosis - arrhythmias, heart block
- Pericarditis/myocarditis
Renal
- Glomerulonephritis
- Chronic nephropathy
- Renal crisis
How is systemic sclerosis managed?
MDT approach - refer to appropriate specialties Immunomodulation: -Steroids (esp. pulmonary fibrosis) -Cyclophosphamide -MMF
How is Raynaud’s managed?
Non-pharmacological:
- Hand warmers
- Warm clothing
- Primrose oil
Vasodilators
- Calcium channel blockers
- Losartan
- Topical GTN
Severe (ulcers/necrosis):
-Iloprost
How is a scleroderma renal crisis managed?
- ACEi (70 –> 10% mortality)
2. RRT
What are the symptoms of rheumatoid arthritis?
- Weeks to months onset
- Stiffness - worse in morning/inactivity
- Pain
- Swelling
- Joints affected
- –symmetrical
- –PIP/MCP, wrist, elbow, knee, ankle, MTP
What are the examination features of RA?
Palmar erythema Muscle wasting Cutaneous vasculitis (digital ischaemia) Swelling/synovitis ---PIP/MCP, wrist, elbow, knee, ankle, MTP ---Active synovitis = Pain AND swelling Deformities -Ulnar devation -Boutonniere/swan neck -Z-thumb
What are the diagnostic criteria for RA?
American College of Rheumatology criteria Score >6 for definite RA A Joint involvement -2-10 large joints = 1 -1-3 small joints =2, 4-10 small = 3 ->10 = 5
B Serology - Low +ve RF/CCP =2, high +ve = 3
C Acute phase response (CRP/ESR) = 1
D Duration >6 weeks = 1
What surgical options are there for RA?
Swanson's arthroplasty (silicon joint replacement) Wrist arthrodesis Ulnar styloidectomy Wrist synovectomy Tendon transfer
Extra-articular manifestations of RA
Eye: Sjogrens/secondary Sicca, Epi/scleritis, corneal ulcers, cataracts (steroids)
Neuro:
Entrapment Mononeuropathies
Cervical myleoradiculopathy
Mononeuritis multiplex in RA vasculitis
CVS - IHD, pericarditis, MR
Resp:
- Fibrosis
- Effusion (exudate)
- Rheumatoid Nodule
- Bronchiolitis obliterans
- Pleurisy
- Caplans syndrome (silicosis in RA = massive nodules)
Renal - amyloid nephrotic syndrome
Skin - palmar erythema, livedo reticularis, vasculitis, pyoderma gangrenosum
Haem:
Anaemia - chronic disease, drugs (NSAID/MTX)
Leucopenia in felty syndrome
Vasculitis - small vessel, restricted to skin, digital gangrene, raynaud’s
Investigations in RA
XR of affected joints
MRI/US - sensitive for synovitis
Serology - RhF (Ab to Fc portion of IgG), CCP, CRP/ESR
Joint aspiration (if other causes suspected)
Management of RA
MDT: OT/physio/CNS/smoking/weight loss
Principles:
- Aggressive with 2-3 DMARD therapy then wean down
- MTX and sulfasalazine most common
- Hydroxychloroquine, leflunomide, ciclosporin, gold, penicillamine
Biologics
- TNF alfa: Adalimumab, etanercept, infliximab,
- B cell depletion: rituximab
What are the clinical features of Marfan syndrome?
Head:
- Dolichocephaly
- High arched palate
- Dental crowding
- Ectopic lens
Arms:
- Arm span>height
- Arachnodactyly
- Hypermobility
Body:
- Kyphoscoliosis
- Pectus deformity
- Aortic root dilatation/dissection/AR
- MV prolapse
- Pneumothorax
What is the pathophysiology of Marfan syndrome?
AD inherited genetic disorder
-Fibrillin gene mutation
Decreased elastin in tissues and fragmentation of elastic fibres
