Systemic Sclerosis

Question 1

Define:

Answer 1

• Rare connective tissue disease characterised by widespread small blood vessel damage and fibrosis in skin (scleroderma) and internal organs
• It is a spectrum of diseases:

Question 2

Aetiology/risk factors:

Answer 2

• UNKNOWN
• Genetic and environmental factors
• Pathogenesis is unclear

Question 3

Epidemiology:

Answer 3

• Age of onset: 30-60 yrs

* 3 x more common in FEMALES

Question 4

Signs and symptoms:

Answer 4

• Skin - Raynaud’s phenomenon
• Hands

o Initially swollen painful fingers
o Later, they become thickened, tight, shiny and bound to underlying structures
o Changes in pigmentation
o Finger ulcers
• Face
o Microstomia (puckering of the skin around the mouth)
o Telangiectasia
• Lung - pulmonary fibrosis —> pulmonary hypertension
• Heart - pericarditis or pericardial effusion, myocardial fibrosis, heart failure, arrhythmias
• GI - dry mouth, oesophageal dysmotility, reflux oesophagitis, gastric paresis
• Kidneys - hypertensive renal crisis, chronic renal failure
• Neuromuscular - trigeminal neuralgia, muscular wasting, weakness
• Others - hypothyroidism, impotence

Question 5

Investigations:

Answer 5

• Autoantibodies
o Antinuclear
o Anti-centromere (70% of limited cutaneous systemic sclerosis cases)
o Anti-topoisomerase II (anti-Scl-70) - 30% of diffuse cutaneous systemic sclerosis cases
o Anti-nucleolar
o Anti-RNA polymerase
• Lungs - CXR, pulmonary function tests, CT scan
• Heart - ECG, echocardiography
• GI - endoscopy, barium studies
• Kidneys - U&Es, creatinine clearance
• Neuromuscular - electromyography, biopsy
• Joints - radiography
• Skin - biopsy (rarely needed)

Question 6

What are the symptoms of limited scleroderma/ limited cutaneous systemic sclerosis:

Answer 6

Calcinosis 
Raynauds 
Oesophageal dismotility 
Sclerodactyly
Telangiectasia