Systemic sclerosis

Question 1

Define systemic sclerosis

Answer 1

Rare connective tissue disease characterised by
widespread small blood vessel damage and fibrosis in skin and internal organ

Also known as scleroderma

Question 2

What is Pre-Scleroderma?

Answer 2

Raynaud’s phenomenon

Nail-fold capillary changes

Antinuclear antibodies

Question 3

What is Diffuse Cutaneous Systemic Sclerosis?

Answer 3

(40%) of Scelroderma

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

Question 4

What is Limited Cutaneous Systemic Sclerosis?

Answer 4

(60%) of Scleroderma

Previously known as CREST Syndrome because of its FIVE characteristic features:
Calcinosis
Raynaud's phenomenon
(O)esophageal dysmotility
Sclerodactyly
Telangiectasia

Question 5

What is Scleroderma sine Scleroderma?

Answer 5

Internal organ disease with NO skin changes

Question 6

Explain the aetiology/risk factors of systemic sclerosis

Answer 6

UNKNOWN
Genetic and environmental factors
Pathogenesis is unclear

Activated monocytes, macrophages and lymphocytes may interact with:
Endothelial cells –> endothelial cell damage, platelet activation, narrowing of blood vessels

Fibroblasts –> lay down collagen in the dermis

Question 7

Summarise the epidemiology of systemic sclerosis

Answer 7

Age of onset: 30-60 yrs

3 x more common in FEMALES

Question 8

Recognise the presenting symptoms and signs of systemic sclerosis

Answer 8

Skin - Raynaud’s phenomenon

Hands - Initially swollen painful fingers, Later, they become thickened, tight, shiny and bound to underlying structures. Changes in pigmentation. Finger ulcers

Face - Microstomia (puckering of the skin around the mouth). 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 9

Identify appropriate investigations for systemic sclerosis

Answer 9

Autoantibodies - Antinuclear, Anti-centromere (70% of limited cutaneous systemic sclerosis cases). Anti-topoisomerase II (anti-Scl-70) - 30% of diffuse cutaneous systemic sclerosis cases. Anti-nucleolar. 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 - radiograph

Skin - biopsy (rarely needed)