Systemic Sclerosis

Question 1

Define systemic sclerosis.

Answer 1

Systemic sclerosis (SSc), also known as scleroderma, is 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.

Question 2

Explain the aetiology/risk factors of systemic sclerosis.

Answer 2

FHx of scleroderma
Immune dysregulation (e.g., positive ANA)

Question 3

Summarise the epidemiology of systemic sclerosis.

Answer 3

There are different prevalence estimates for scleroderma among different world populations, with higher population estimates in the US than in Europe or Asia. The prevalence of scleroderma is estimated at 88 per million in England.

Question 4

Recognise the presenting symptoms of systemic sclerosis. Recognise the signs of systemic sclerosis on physical examination.

Answer 4

Raynaud’s phenomenon
Digital pits or ulcers
Swelling of the hands and feet
Skin thickening
Loss of function of hands
Sclerodactyly
Heartburn, reflux, and dysphagia
Bloating
Faecal incontinence
Arthralgias and myalgias

Question 5

Identify appropriate investigations for systemic sclerosis and interpret the results.

Answer 5

Serum auto-antibodies
FBC
Urea and serum creatinine
ESR
C-reactive protein (CRP)
Urine microscopy
Complete PFTs (spirometry, lung volumes, and diffusing capacity measurement)
ECG
Echocardiogra
CXR
Barium swallow