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 for systemic sclerosis

Answer 2

• FHx of SSc
• Immune dysregulation

Question 3

Summarise the epidemiology

Answer 3

Women > men, with a female-to-male ratio of 5:1

Question 4

Recognise the presenting symptoms of systemic sclerosis

Answer 4

• Dry cough (ILD - diffuse )
• Dyspnoea (ILD- diffuse)
• Skin thickening/sclerodactyly (CREST)
• Dysphagia/heartburn (CREST)

Question 5

Recognise the signs on physical examination of systemic sclerosis

Answer 5

• There is LIMITED & DIFFUSE scleroderma:
  
  • LIMITED: Skin thickening is limited to distal parts of the body (from elbows down & from knees down) ± face
  • DIFFUSE: Skin thickening on the whole body and there is ORGAN INVOLVEMENT (namely Renal & Pulmonary)
  • Skin thickening is most clearly seen in the hands and face
• Limited scleroderma also knows as CREST symptoms:
  
  • Calcinosis (subcutaneous white spots on the skin)
  • Raynaud’s phenomenon - intermittent vasospasm of digits on exposure to cold –> white to blue to red
  • Esophageal motility: Dysphagia, heartburn
  • Sclerodactyly
  • Telangiectasia (multiple spider naevi)
• Signs due to skin thickening:
  
  • Shiny appearance of skin
  • Tearing of skin at joints
  • Sclerodactyly - thickening restricts motion of the joints
  • Reduction in oral aperture
  • Digital ulcers due to poor digital blood flow
• Late inspiratory crackles (due to ILD)
• Accentuated P2 sound (due to pulmonary hypertension) - LIMITED
• Abrupt onset hypertension: Scleroderma renal crisis –> narrowing of renal artery activates RAAS - DIFFUSE
  Can also cause THROMBOTIC MICROANGIOPATHY

Question 6

Identify appropriate investigations for systemic sclerosis and interpret the results

Answer 6

• Positive ANA
• Positive anti-Scl70 (diffuse) and anti-centromere (limited)
  Can be RF +ve
• U & E - urea and creatinine may be raised in sclerodermal renal crisis
• PFT: Shows restrictive pattern (FEV1/FVC >70% and reduced TLC)
• ESR & CRP may be elevated
• CXR and/or High res-CT will show bi-basal interstital reticular opacities and ground-glass appearance respectively

Question 7

Summary for Scleroderma

Answer 7

Look below:

Question 8

Management

Answer 8

• Nifedipine is usually first-line for Raynaud’s phenomenon
• Sildenafil can be used for Raynaud and may help in pulmonary hypertension
• PPI (e.g., omeprazole or lansoprazole) for acid reflux
• Prokinetic medications (e.g., metoclopramide) for gastrointestinal symptoms
• Analgesia for joint pain
• ACE inhibitors to treat hypertension and scleroderma renal crisis