Systemic Sclerosis

Question 1

Define systemic sclerosis

Answer 1

Multisystem autoimmune disease characterised by small blood vessel damage and fibrosis in
skin and internal organs
• Raynaud’s phenomenon
• Diffuse cutaneous systemic sclerosis – Raynaud’s plus skin involvement
• Limited cutaneous systemic sclerosis aka CREST syndrome (calcinosis, Raynaud’s,
oesophageal dysmotility, sclerodactyly, telangiectasia)
• Sine scleroderma – internal organ disease only

Question 2

What are the causes/risk factors of systemic sclerosis?

Answer 2

Unknown aetiology
• Vasculopathy
• Fibrosis
• Immune system activation

Risk Factors
• ANA
• Family history
• Silica dust/solvents

Question 3

What are the signs and symptoms of systemic sclerosis?

Answer 3

Cutaneous
• Raynaud’s phenomenon – white (pallor) -> blue (cyanosis) -> red (hyperaemia)
• Swollen painful hands -> sclerodactyly
• Microstomia – puckering of perioral skin

Lung
• Pulmonary fibrosis -> pulmonary HTN
• SOB
• Cough
• Crackles

Heart
• Pericarditis
• Heart failure
• Arrhythmias

GI
• Dry mouth
• Dysphagia
• Reflux
• Bloating
• Faecal incontinence

Kidneys
• Hypertensive renal crisis

Joints
• Arthralgia/myalgia

Question 4

What investigations are carried out for systemic sclerosis

Answer 4

• ANA - Anti-centromere (limited), anti-Scl-70(diffuse), anti-nucleolar antibodies. anti-PmScl (associated with myositis), anti-RNA-polymerase (associated with renal crisis).
• Nail-fold capillary ophthalmoscopy or microscopy - to detect fine nail-fold changes.

Complications:
• Lung - CXR, pulmonary function tests, high-resolution CT scan.
• Heart - ECG & echocardiography.
• GI - Endoscopy, barium studies, gastric/oesophageal scintigraphy.
• Kidney - U&E and measurement of creatinine clearance.
• Neuromuscular - Electromyography, nerve conduction studies, biopsy.
• Joints - Radiography (for subcutaneous calcification, acro-osteolysis, flexion deformities).
• Skin - biopsy (to exclude fasciitis, rarely necessary), muscle biopsy for associated myositis