Scleroderma

Question 1

what is the definition of SSc?

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

what are the risk factors for SSc?

Answer 2

family history of scleroderma
immune dysregulation (e.g., positive ANA)
exposure to environmental substances and toxins (e.g., silica dust or solvents)

Question 3

what are the key presentations of SSc?

Answer 3

presence of risk factors
Raynaud’s phenomenon
digital pits or ulcers
swelling of the hands and feet

Question 4

what are the symptoms of SSc?

Answer 4

fatigue
dry cough
decreased exercise tolerance
weight loss

Question 5

what are the first line and gold standard investigations for SSc?

Answer 5

serum auto-antibodies
FBC
urea and serum creatinine
ESR

Question 6

what are the differential diagnoses for SSc?

Answer 6

Primary Raynaud’s phenomenon
Localised scleroderma (morphoea)
Mixed connective tissue disease

Question 7

how is SSc managed?

Answer 7

Clinical course is determined by extent of vascular and fibrosing complications. Vascular involvement includes Raynaud’s phenomenon, ischaemic digital ulcers, hypertensive crisis, and pulmonary arterial hypertension. Fibrosis can involve lungs, heart, and gastrointestinal tract.
Treatment is targeted on disease processes that are potentially reversible (e.g., active inflammation or vasoconstriction) and aims to minimise functional impairment of the patient.