Connective Tissue Disorders Flashcards
Describe the clinical presentation of SLE
- variable (mild - severe disease)
- constitutional symptoms
- cutaneous manifestations (individually does not = SLE)
- arthralgia and arthritis
What is discoid lupus?
Lupus with cutaneous manifestations without any affect on internal organs
List the MSK manifestations of SLE
- avascular necrosis
- fibromyalgia
- osteoporosis
List the renal manifestations of SLE and how to monitor this
- end-stage renal failure (within 10y)
- lupus nephritis
- monitor with urinalysis, Us and Es and BP
- monitor anti-ds-DNA antibodies (can predict flare up)
- renal biopsy can help diagnosis, prognosis and treatment choice
List the pulmonary manifestations of SLE
- pleurisy (inflammation of pleura)
- pleural effusions
- acute pneumonitis
- diffuse alveolar haemorrhage
- pulmonary hypertension
- shrinking lung syndrome
List the cardiovascular manifestations of SLE
- pericarditis +/- effusion
- myocarditis
- valvular abnormalities
- coronary heart disease
List the neuropsychiatric manifestations of SLE and how you would monitor this
- headache
- anxiety and mood disorder
- seizure
- demyelination
- Gullain-Barre Syndrome
- mononeuritis
- EEG, MRI, LP, psychiatric evaluation
- measure anti-ribosomal P levels (associated with mood disorders)
List the GI manifestations of SLE
Not as common
- dysphagia
- reduced peristalsis
- peritonitis
- pancreatitis
- pseudo-obstruction
- lupus hepatitis (biopsy required)
List the haematological manifestations of SLE
- anaemia of chronic disease
- autoimmune haemolytic anaemia
- thrombotic thrombocytopenia purpura (TTP)
- leukopenia
- associated lymphadenopathy and splenomegaly
- thrombocytopenia
Describe the role of ANA in SLE
- autoantibodies that attack self-proteins leading to activation of innate and adaptive immunity
- sensitive but not specific for SLE
What is an ENA panel?
- done when ANA tests positive
- tests for the presence of 1 or more autoantibodies that react with proteins in the cells nucleus
- knowing which antigens are affected can narrow down the diagnosis
Which ENA are specific for lupus?
- Ro/La (SLE)
- Ds/DNA (SLE)
- Sm (SLE)
- histone (drug induced lupus)
Which ENA are specific for systemic scleroderma?
- centromere (limited)
- Scl-70 (diffuse)
Describe the effect of SLE on complement
- active disease = complement
- C3 more specific
- C4 can be chronically low
- keep an eye on the trend more than the number itself
List the 3 licensed medications for SLE in the UK
- steroids
- hydroxychloroquine
- belimumab
Describe the pharmacological management of SLE
- NSAIDs and hydroxychloroquine for mild disease alone ± short courses of corticosteroids for flares
- more organ involvement may require long-term corticosteroids + a DMARD as a ‘steroid sparing agent’ to reduce the steroid dose
- severe flares causing serious renal, neurological or haematological effects need high dose corticosteroids + immunosuppressants (cyclophosphamide)
What self-management should be employed for SLE?
- sun protection
- vaccination
- exercise
- avoid smoking
- optimise body weight, blood pressure, lipids, glucose
Describe scleroderma and differentials
- characterised by skin thickening, progressive fibrosis and vascular disease
- systemic = skin thickening of fingers extending proximal to the MCP joints
- differentials = diabetic chieropathy, generalised morphia, eosinophilic fasciitis
What are the other diagnostic features of systemic scleroderma?
- skin changes
- finger-tip lesions
- telangiectasia
- abnormal nail fold capillaries
- pulmonary arterial hypertension and/or interstitial lung disease
- Raynaud’s
- related autoantibodies
List the features of limited variant systemic scleroderma
- distal skin involvement
- skin calcification
- telangiectasia
- Raynaud’s
- anti-centromere positive
- pulmonary arterial hypertension
List the features of diffuse variant systemic scleroderma
- proximal skin involvement and trunk
- Raynaud’s
- early organ involvement (interstitial lung disease and pulmonary arterial hypertension, renal failure, myocardial disease, GI)
List the cutaneous manifestations of systemic scleroderma
- skin thickening
- non-pitting oedema of hands and feet -> skin tightness
- sclerodactyl
- contractures
- calcinosis
- telangiectasia
List the MSK manifestations of systemic scleroderma
- arthralgia
- myalgia
- inflammatory arthritis and inflammatory myositis (less common)
- tendon friction rubs
List the vascular manifestations of systemic scleroderma
- Raynaud’s
- severe disease = digital ulcers with auto-amputations
List the GI manifestations of systemic scleroderma
Common
- oesophageal dysmotility
- GORD
- small bowel hypoobility with bacterial overgrowth
- hypo mobility of large bowel + constipation
- pancreatic insufficiency
List the respiratory manifestions of systemic scleroderma
- interstitial lung disease
- organising pneumonia
- pulmonary hypertension
List the renal manifestations of systemic scleroderma
- renal crisis associated with corticosteroid use (avoid high and prolonged doses)
- renal crisis associated with hypertension, progressive renal failure, microangiopathic haemolytic anaemia, seizures and encephalopathy
List the cardiac manifestations of systemic scleroderma
- arrhythmias
- pericardial effusions
- myocardial fibrosis
List the treatment of systemic scleroderma
- MSK: moisturiser, MTX, laser therapy for telangiectasia, analgesia
- Raynaud’s: CCB, ACEi/fluoxetine, sildenafil, iloprost
- pulmonary: mycophenolate mofetil, cyclophosphamide, lung transplant, stem cell transplant
- GI: pro kinetics, PPI, H2 blockers, cyclical antibiotics, laxatives
- cardiac: immunosuppressive, permanent pacemaker
- renal: ACEi
List the subtypes of idiopathic inflammatory myositis
- polymyositis
- dermatomyositis
- overlap syndromes
- juvenile PM/DM
- drug induced
- inclusion body myositis
Describe the clinical manifestations of idiopathic inflammatory myositis
- symmetrical, proximal muscle weakness
- myalgia (<50%)
- respiratory/diaphragm involvement
- oesophageal involvement
- face and neck involvement (rare)
- distal disease (in IBM)
List the cutaneous manifestations of idiopathic inflammatory myositis (dermatomyositis)
- can precede muscle involvement
- Gottrons papules (red/purple papule over MCP and PIP joints)
- heliotrope rash + periorbital oedema
- macular eruption (shawl sign, V sign)
- calcinosi (children)
List the systemic manifestations of idiopathic inflammatory myositis
- overlap syndromes: CTD, anti-synthetase syndromes
- malignancy: associated with dermatomyositis
- non-specific symptoms: weight-loss, fever, fatigue
What investigations would you do if you suspect idiopathic inflammatory myositis?
- creatinine kinase levels
- EMG (electromyography)
- MRI of muscles
- muscle biopsy
- myositis specific antibodies
- tumour screening if symptoms/red flags
Describe the treatment of idiopathic inflammatory myositis
- corticosteroids
- immunosuppression (methotrexate, tacrolimus, azathioprine, mycophenolate mofetil)
- IV immunoglobulin therapy
- resistant disease = rituximab, cyclophosphamide
