Systemic sclerosis Flashcards
Define systemic sclerosis.
AKA scleroderma
A multi-system, autoimmune disease, characterised by functional and structural abnormalities of small blood vessels, fibrosis of skin and internal organs, and production of auto-antibodies.
How common is systemic sclerosis?
Rare
~20 new cases per year per million adults in US
Peaks in 50yrs
What is the aetiology of scleroderma?
Aetiology is unknown at present. However, several aetiological factors have been suggested.
Genetic - most monozygotic twins are concordant for autoantibodies but only < 5% concordant for systemic sclerosis
Immune - 90% have positive ANA and other antibodies
Environmental - e.g. exposure to silica dust
Systemic sclerosis is a polygenic auto-immune condition.
What are the risk factors for SS?
- FH
- Immune dysregulation e.g. positive ANA
- Female - 4:1
What other conditions are associated with ANA?
- SLE
- Sjogren’s
- Dermato/polymyositis
What is the diagnosis?
Systemic sclerosis
What are the patterns of systemic sclerosis?
Limited cutaneous systemic sclerosis (CREST)- face and distal limbs; anti-centromere abs
Diffuse cutaneous systemic sclerosis (CREST + other features) - trunk and proximal limbs, respiratory involvement, renal disease and HTN; anti-scl-70 abs
What is scleroderma?
Skin involvement without organ involvement - e.g. tightening and fibrosis of skin which may manifest as plaques (morphoea) or linear
What is shown?
Morphoea - feature of localised scleroderma
What does CREST stand for and what other features are seen in limited cutaneous SS?
- Calcinosis
- Raynauds
- Oesophageal dysmotility
- Sclerodactyly
- Telangectasia
- Primary pulmonary hypertension
NB: In limited cutaenous SS skin involvement does not progress beyond forearms (although it may involve peri-oral skin)
What are the clinical features of diffuse cutaneous systemic sclerosis?
NB: Skin involvement does progress beyond forearms
- CREST features
- More extensive gastrointestinal disease
- Interstitial pulmonary disease
- Scleroderma kidney / renal crisis
Which autoantibodies are found in systemic sclerosis?
Limited cutaneous SS - anti-centromere
Diffuse cutanoeus SS - anti-Scl-70/ anti-topoisomerase I (nucleolar pattern of staining)
What is shown?
Hand demonstrating sclerodactyly with finger curling, shiny skin at the fingers, and telangiectasias
What is shown?
Telangiectasias of the fingers
What may be the cause of proximal myopathy in SS?
Co-existing inflammatory myositis
What are the causes of cough and breathlessness in systemic sclerosis?
- ILD
- Pulmonary hypertension
- Chronic aspiration pneumonitis
- Cardiomyopathy
Why might systemic sclerosis patients be anaemic?
Blood loss from gastric antral vascular ectasia
What is the management of systemic sclerosis?
Skin dryness - emollient, antihistamine/corticosteroid (for pruritus)
Raynaud’s - conservative, CCB (e.g. amlodipine), topical GTN 12hr patches, PDE-5 inhibitors (e.g. sildenafil) if ulcers.
Renal crisis - ACEi as prevention
GORD - PPI +/- prokinetic agent (e.g. low dose erythromycin)
ILD - observation +/- immunomodulator (e.g. MMF, cyclophosphamide, azathioprine), oxygen therapy, lung transplant
Pulmonary arterial hypertension - endothelin receptor antagonist or PDE-5 inhibitor e.g. sildenafil.
What are the complications of systemic sclerosis?
- Skin ulcers, infection, osteomyelitis, digital amputation
- Sicca - xerostomia, xerophthalmia
- Malabsorptive diarrhoea, steatorrhoea, weight loss
- Hypothyroidism
- Pulmonary artery hypertension
- Oesophageal stricture, aspiration pneumonia, Barrett’s oesophagus,
- Dysmotility with inability to maintain nutrition
- Cardiac arrhythmias
What is the prognosis with systemic sclerosis?
- Better with limited than diffuse
- Some with limited will still have significant visceral involvement
- Severe and life-threatening renal disease develops in 10% to 15% of scleroderma patients
- Mean survival 12 yrs after diagnosis
