Systemic sclerosis is a connective tissue disease characterised by fibrosis of the skin and visceral organs. It is relatively rare, affecting around 20 per 100.00. Females are more affected than males (6:1 in UK) and it is commonest in the 5th decade.
There are 2 main subdivision:
- Limited systemic sclerosis
- skin involvement is limited to face, hands and feet
- organs are involved later
- associated with anti-centromere antibodies in 50%
- CREST (calcinosis, Raynauds, oesophageal dysmotilty, sclerodatyl and telangectasia) is a subtype of limited systemic sclerosis
- Diffuse systemic sclerosis
- More skin involvement
- Earlier visceral involvement
- Anti Scl 70- found in 40%
Both types are associated with ANA in 85-98% of cases.
Anti-Ro is found in 9% of cases and is associated with a very severe and rapidly progressive disease.
Features of systemic sclerosis include:
- Raynauds – occurs in 98% of cases and is 1st symptom in 70% of cases
- GI tract involvement – strictures
- Skin involvement
- Telangiectasia
- Microstomia/peri-oral puckering
- Smooth shiny skin
- Renal failure
- Pulmonary hypertension/fibrosis
- Arthralgia
Treatment is
- Supportive
- Nifedipine/lorsartan for Raynaulds
- ACE I to protect kidneys
- d-penicillamine
- possibly steroids
Small print gem: side effects of penicillamine include proteinuria, leucopenia, thrombocytopenia, mucosal ulceration, cholestatis.
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