Systemic Sclerosis Flashcards
Define systemic sclerosis?
rare connective tissue AI disease characterised by widespread small blood vessel damage and fibrosis in skin ( scleroderma) and internal organs due to XS deposition of collagen
what are the 4 diseases in the spectrum of disease
- pre-scleroderma
- diffuse cutaneous systemic sclerosis
- limited cutaneous systemic sclerosis
- scleroderma sine scleroderma
what are the features of pre-scleroderma?
- raynaud’s phenomenon
- nail-fold capillary change
- antinuclear anitbodies
outline the aetiology of systemic sclerosis?
UNKNOWN- pathogenesis unclear
Genetic and environmental factors
Activated monocytes, macrophages and lymphocytes may interact with:
- Endothelial cells –> endothelial cell damage, platelet activation, narrowing of blood vessels
- Fibroblasts –> lay down collagen in the dermis
summarise the epidemiology of systemic sclerosis?
Age of onset: 30-60 yrs
3 x more common in FEMALES
what are the features of diffuse cutaneous systemic sclerosis?
diffuse skin involvement and early organ fibrosis
- Raynaud’s phenomenon
- Followed by skin changes with truncal involvement
- Tendon friction
- Joint contracture
- Early lung disease – pulmonary fibrosis
- Heart, GI and renal disease
- Nail-fold capillary dilatation
- Anti-topoisomerase 1 antibodiesin 40%
- Anti-RNA polymerase in 20%
- Poor prognosis
what are the features of limited cutaneous systemic sclerosis?
Skin involvement limited to face, hands and feet
Associated with anti-centromere antibodies in 70-80%
Previously known as CREST Syndrome because of its FIVE characteristic features:
Calcinosis – subcutaneous tissues
Raynaud’s phenomenon
Oesophageal and gut dysmotility
Sclerodactyly – swollen tight digits
Telangiectasia
what are the 5 characteristics of crest syndrome?
Calcinosis – subcutaneous tissues
Raynaud’s phenomenon
Oesophageal and gut dysmotility
Sclerodactyly – swollen tight digits
Telangiectasia
what are the features of scleroderma sine scleroderma?
Internal organ disease with NO skin changes
what are the appropriate investigations for systemic sclerosis?
Autoantibodies
- Antinuclear – main one (90% of all pts)
- Anti-centromere (70% of limited cutaneous systemic sclerosis cases)
- Anti-topoisomerase II (anti-Scl-70)- 30% of diffuse cutaneous systemic sclerosis cases
- Anti-nucleolar
- Anti-RNA polymerase
Lungs - CXR, pulmonary function tests, CT scan
Heart - ECG, echocardiography
GI - endoscopy, barium studies, FBC (check for anaemia and ESR/CRP for inflammation)
Kidneys - U&Es, creatinine clearance
Neuromuscular - electromyography, biopsy
Joints - radiography
Skin - biopsy (rarely needed)
what are the autoantiodies involved in systemic sclerosis?
Antinuclear – main one (90% of all pts)
Anti-centromere(70% of limited cutaneous systemic sclerosis cases)
Anti-topoisomerase II (anti-Scl-70)- 30% of diffuse cutaneous systemic sclerosis cases
Anti-nucleolar
Anti-RNA polymerase
what are the presenting symptoms and signs of systemic sclerosis?
Skin - Raynaud’s phenomenon
Hands
- Initially swollen doughy painful fingers
- Later, they become thickened, tight, shiny and bound to underlying structures - sclerodactyly (seen in all cases of scleroderma)
- Loss of function e.g. inability to have a tight grasp
- Swelling of hands and feet –stiffness in the morning
- Changes in pigmentation
- Finger ulcers
Face
- Microstomia (puckering of the skin around the mouth)
Telangiectasia
Lung - pulmonary fibrosis—> pulmonary hypertension, dyspnoea, dry crackles at the base of the lungs (indicating INS lung disease)
Heart - pericarditis or pericardial effusion, myocardial fibrosis, heart failure, arrhythmias
GI - dry mouth, oesophageal dysmotility,reflux oesophagitis, gastric paresis, bloating, incontinence (faecal)
Kidneys - hypertensive renal crisis, chronic renal failure
Neuromuscular - trigeminal neuralgia, muscular wasting, weakness
Athralgia
Others - hypothyroidism, impotence
