Systemic Sclerosis (Scleroderma)

🩺 The main cause of death in systemic sclerosis is lung disease (pulmonary fibrosis or pulmonary hypertension), followed by renal and cardiac disease. Limited cutaneous disease generally has a better prognosis with milder organ involvement.

✨ About

• Sclerosis = "hardening" of tissue with loss of compliance.
• Scleroderma = thickening and fibrosis of the skin due to excess collagen.
• A multisystem autoimmune disease with fibroblast overactivity, vascular damage, and autoantibodies.
• Commonly associated with Raynaud’s phenomenon.

🧬 Aetiology

• Excess collagen deposition by activated fibroblasts.
• Autoantibodies: Anti-centromere, Anti-topoisomerase I (Scl-70), Anti-RNA polymerase I/II/III.
• May overlap with SLE, RA, or polymyositis.
• Diagnosis is mainly clinical – negative antibodies do not exclude the disease.

🌍 Systemic Sclerosis (SSc)

• Defined by skin fibrosis and Raynaud’s phenomenon with variable internal organ involvement.

🖐 Limited Cutaneous Scleroderma (CREST syndrome)

• Better prognosis than diffuse disease.
• Calcinosis, Raynaud’s, Esophageal involvement, Sclerodactyly, Telangiectasia.
• Antibodies: Anti-centromere (70%).
• Skin: Telangiectasia (bleeding risk), tight skin around mouth → microstomia, “beak-like nose.”
• Hands: Sclerodactyly → flexion contractures, painful digital ulcers, calcinosis.
• GI: Oesophageal dysmotility, reflux (PPI), gastric stasis, bacterial overgrowth.
• Lungs: Pulmonary hypertension is a key complication.

🌟 Tip: Limited disease often starts with Raynaud’s (present in ~70%) years before other features develop.

🌊 Diffuse Cutaneous Scleroderma

• More extensive, rapid skin thickening and oedema.
• GI: Dysmotility, strictures, bacterial overgrowth, malabsorption.
• Lungs: Pulmonary fibrosis (linked to anti-topoisomerase), pulmonary hypertension (may occur independently).
• Cardiac: Pericarditis, myocardial fibrosis, conduction defects.
• Renal: Acute renal crisis → accelerated hypertension, AKI. Rx: ACE inhibitors (life-saving).
• Antibodies: Anti-topoisomerase, anti-RNA polymerase.

🎯 Localised Scleroderma (No systemic involvement)

• Morphea: Localised plaques with pigment change.
• Generalised morphea: Widespread itchy lesions.
• Linear scleroderma: Affects limbs; asymmetrical distribution.
• En coup de sabre: Linear lesion across scalp/forehead → may involve bone and brain.

🧪 Investigations

• Bloods: Anaemia, ↑ ESR/CRP, Rheumatoid factor (30%).
• Autoantibodies: ANA (90%), Anti-centromere (limited), Anti-Scl-70 (diffuse), Anti-RNA polymerase (diffuse).
• Imaging:
  • HRCT: Detects interstitial lung disease.
  • Doppler echo, right heart catheterisation: Pulmonary hypertension.
  • Barium swallow: Oesophageal dysmotility.
  • X-ray hands: Calcinosis, resorption of distal phalanges.

🩹 Management

• Education & support: counselling, avoid cold exposure.
• Raynaud’s: Avoid cold, stop smoking, CCBs (nifedipine), PDE-5 inhibitors, prostacyclin if severe.
• Renal crisis: ACE inhibitors (improve survival).
• Digital ulcers: Vasodilators (CCBs, sildenafil, prostacyclin), endothelin receptor antagonists (bosentan), sympathectomy.
• Skin: Immunosuppressants (cyclophosphamide, MMF, methotrexate).
• Pulmonary fibrosis: Cyclophosphamide, azathioprine ± steroids. Consider antifibrotics (nintedanib).
• Pulmonary hypertension: Oxygen, diuretics, sildenafil, bosentan, prostacyclin; transplant in refractory cases.
• GI: PPIs, prokinetics, antibiotics for bacterial overgrowth, nutrition support.

📊 Prognosis

• 10-year survival: Limited cutaneous ~70%, Diffuse cutaneous ~55%.
• Major mortality from pulmonary fibrosis and pulmonary hypertension.