Systemic Sclerosis

Question 1

Definition

Answer 1

• Rare connective tissue disease characterised by widespread small blood vessel damage and fibrosis in skin and internal organs
• Also known as scleroderma

Question 2

Spectrum of disease

Answer 2

It is a spectrum of diseases:

o Pre-Scleroderma
• Raynaud’s phenomenon
• Nail-fold capillary changes
• Antinuclear antibodies

o Diffuse Cutaneous Systemic Sclerosis (40%)
• Raynaud's phenomenon
• Followed by skin changes with truncal involvement
• Tendon friction
• Joint contracture
• Early lung disease
• Heart, GI and renal disease
• Nail-fold capillary dilatation

o Limited Cutaneous Systemic Sclerosis (60%)
• Previously known as CREST Syndrome because of its FIVE characteristic
features:
▪ Calcinosis
▪ Raynaud's phenomenon
▪ (O)esophageal dysmotility
▪ Sclerodactyly
▪ Telangiectasia

o Scleroderma sine Scleroderma
• Internal organ disease with NO skin changes

Question 3

Aetiology

Answer 3

• UNKNOWN
• Genetic and environmental factors
• Pathogenesis is unclear

• Activated monocytes, macrophages and lymphocytes may interact with:
o Endothelial cells –> endothelial cell damage, platelet activation, narrowing of blood vessels
o Fibroblasts –> lay down collagen in the dermis

Question 4

Epidemiology

Answer 4

• Age of onset: 30-60 yrs

* 3 x more common in FEMALES

Question 5

Presenting symptoms (hands)

Answer 5

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

Question 6

Presenting symptoms (other)

Answer 6

• Skin - Raynaud’s phenomenon

• 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 7

Investigations (autoantibodies)

Answer 7

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

Question 8

Investigations (other)

Answer 8

• 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)