Connective tissue disorder Flashcards
When is the most common onset of SLE?
During reproductive years
Which races is SLE more common in?
- Afro-caribbean
- South Asian
- Mexican
Which sex is SLE more common in?
Females
What is the name of the classification of SLE?
•EULAR/ACR
What is the clinical presentation of lupus?
- Constitutional symptoms: weight loss, headache, pain, fatigue, loss of appetite, night sweats, and malaise
- Cutaneous manifestations
- Arthralgia (joint stiffness)
- Arthritis
What are the musculoskeletal signs of lupus?
- Synovitis
- Jaccoud’s arthropathy
- AVN, fibromyalgia and osteoporosis are all associated
Explain renal component of SLE
- 1/3-1/2 of patient’s will have renal involvement
- 20% will develop ESRF in 10 years
- Typically within first year or two
- Urinalysis, UEs, BP monitored at the clinic
- dsDNA- rise in titre can predict flares
- Renal biopsy may be helpful for the diagnosis, prognosis and determining treatment
Explain the pulmonary manifestations of SLE
- Pleurisy - pleuritic chest pain
- Pleural effusions
- Acute pneumonitis
- Diffuse alveolar haemorrhage
- Pulmonary hypertension
- Shrinking lung syndrome
Explain the cardiovascular manifestations of SLE
- Pericarditis +/- effusion
- Myocarditis
- Valvular abnormalities
- Coronary heart disease - high risk of morbidity and mortality long term
- Risk of MI 50x
Explain the neuropsychiatric manifestations of SLE
- 19 different manifestations
- Headache
- Anxiety and mood disorder
- Seizure
- demyelination
- GBS
- Mononeuritis
Explain the investigation of the manifestations of SLE
- EEG if seizures
- MRI
- LP to look for inflammatory cells
- Psychiatric evaluation
- Anti-ribosomal P - associated with mood disorders
What are the gastrointestinal manifestations of SLE?
- Uncommon, more likely to be effect due to medication
- Dysphagia
- Reduced peristalsis
- Peritonitis
- Pancreatitis
- Pseudo-obstruction
- Lupus hepatitis- biopsy is required
What are the haematological manifestations of SLE?
- Anaemia of chronic disease
- Autoimmune haemolytic anaemia
- Thrombotic thrombocytopenia purpura
- Leukopenia
- Can have an associated lymphadenopathy and splenomegaly
- Thrombocytopenia - mild or ITP
What is ANA and what is its significance in lupus?
- Anti-nuclear antibodies
- SLE is due to activation of invasive and adaptive immunity
- Interaction of self antigens on or released by apoptotic cells
- In SLE there is a breakdown in the ability to process debris from apoptotic cells, nuclear elements of cells are exposed and you can develop self antigens
- it a sensitive but not a specific test
If ANA is positive, what is it helpful to know?
Which of the antigens is affected
Ro/La
SLE, sjogrens
Ds-DNA
SLE
Sm
SLE
RNP
Mixed CTD
Centromere
Limited SScl
Scl-70
diffuse SScl
Histone
Drug induced lupus
Explain complement in SLE
- Complement consumption in active disease
- C3 more specific
- C4 can be chronically low
What is the treatment of SLE?
- Steroids
- Hydroxychloroquine - 1st line for all severities
- Belimumab - B cell therapy
What are the adjuvant therapies for SLE?
- Topical lubricants for sicca symptoms
- Fatigue management groups
- Calcium channel blockers for raynauds
- Treatment of co-existent fibromyalgia
- CVS risk
- Osteoporosis
- If coexisting APLS use anticoagulants in confirmed thromboembolic disease
Who does scleroderma mainly affect?
•Women aged 30-50
What is scleroderma characterised by?
- Skin thickening
* Progressive fibrosis and vascular diseae
What are the disease mimics of scleroderma?
- Diabetic cheiropathy
- Generalised morphed
- Eosinophilic fasciitis
What is sufficient for a patient to be diagnosed with scleroderma?
Skin thickening of the fingers extending proximal to the metacarpophalangeal joint
What is the abbreviation for scleroderma?
SScl
If skin thickening if the fingers extending proximal to the metacarpophalageal joint is not present, what is needed for a diagnosis of scleroderma
- Score of >9 is in keeping with SScl
- Skin changes
- Fingertip lesions
- Telangiectasia
- Abnormal nail fold capillaries
- Pulmonary arterial hypertension and/or ILD
- Raynaud’s phenomenon
- SScl-related autoantibodies
What are the sub categories of scleroderma?
•Localised scleroderma
- morphed
- linear scleroderma
•Systemic scleroderma
- limited
- diffuse
Describe limited variant scleroderma
- Distal skin involvement
- Skin calcification
- Telangectasia
- Raynauds
- Anti-centromere positive
- Late incidence of PAH
What is diffuse variant scleroderma
•Proximal skin involvement and trunk •Raynauds •Early organ involvement - ILD, PAH - Renal failure - myocardial disease - GI involvement
What are the cutaneous manifestations of scleroderma?
- skin thickening
- Initially appears as non-pitting oedema of hands and feet
- Progresses to skin tightness (puffiness recedes)
- sclerodactyl involvement of the fingers
- Contractures
- Calcinosis
- Telangectasia
What are the musculoskeletal manifestations of scleroderma?
- Arthralgia
- Myalgia
- Inflammatory arthritis and inflammatory myositis is less common
- Tendon friction rubs
What are the vascular manifestations of scleroderma?
- Raynauds
* severe disease with digital ulcers and auto amputation (gangrene)
What are the gastrointestinal manifestations of scleroderma?
•Oesophageal dysmotility
•GORD
•Small bowel hypo mobility with bacterial overgrowth
•Hypomobility of large bowel with constipation
*pancreatic insufficiency
What are the respiratory manifestations of scleroderma?
- Interstitial lung disease
- Organising pneumonia
- Pulmonary hypertension
What are the renal manifestations of scelroderma?
- Mortality rates have improved ocnsideranly with ACEi
* Crisis usually occurs within 5 years of disease onset , hypertension and progressive renal failure
What are the cardiac manifestations of scleroderma?
- Arrhythmia
- Peicardial effusion
- Myocardial fibrosis
What is the treatment for the cutaneous manifestations of scleroderma?
- Moistureiser
- Methotrexate
- Laster therapy for telangiectasia
- Rarely for excision
What is the treatment for musculoskeletal manifestations of scleroderma
- Analgesia
* methotrexate
What is the treatment for raynauds?
- CCB first line
- ACEi/Fluoxetine
- Sildenafil
- Iloprost
What are the subtypes of idiopathic inflmamatory myositis?
- Polymyositis
- Dermatomyositis
- Overlap syndromes
- Juvenile PM/DM
- Drug induced
- Inclusion body myositis
What are the clinical manifestations of idiopathic inflammatory myopathies?
- Symmetrical, proximal muscle weakness
- Myalgia in <50%
- Respiratory/diaphragm involvement
- Oesophageal involvement
- Rarely there is face and neck involvement
- Distal disease is unusual
Explain the cutaneous manifestation of idiopathic inflammatory myopathies
•Doesn’t occur in Polymyositis
•Dermatimyositis can precede muscle involvement
- grottrons papule (red/purple papule over MCP/PIPJ)
- heliotrope rash often with per orbital oedema
- macular eruption - shawl sign, V sign
- calcinosis, more common in children
Explain the systemic manifestations of idiopathic inflammatory myopathies
•Overlap syndromes:
- Connective Tissue
- antisynthetase syndromes
•Malignancy
- association with dermatomyositis>polymyositis
•Non specific symptoms:
- weight loss
- fatigue
What are the investigations for idiopathic inflammatory myopathy?
- Creatinine approx thousands (significantly higher suggests alternative causes)
- EMG (electromyography)
- MRI of muscles
- Muscle biopsy
- Myositis specific antibodies
- Tumour screening if symptoms/red flags
What is the treatment of idiopathic inflammatory myopathies?
•Corticosteroids •Immunosuppression •IV immunoglobulins •Resistant disease: - rituximab - cyclophosphamide
