Scleroderma (Systemic Sclerosis)

Introduction

• Scleroderma is an autoimmune connective tissue disease characterised by fibrosis and degenerative changes in blood vessels, visceral organs and skin
• No inflammation
• Clinical hallmarks are tight skin & Raynaud’s phenomenon (diagnosis made on clinical grounds)
• Two forms exist:
  • Limited scleroderma (CREST syndrome): calcinosis, Raynaulds, esophageal dysmoptility, sclerodactyly, telangiectasia
  • Diffuse scleroderma

Clinical Features

• Limited cutaneous systemic sclerosis (CREST):
  • Calcinosis  
  • Raynauds
  • Esophageal dysmotility
  • Sclerodactyly
  • Telangiectasia 
• (involvement confined to distal to elbow + knee) 🡺 (late) pulm HT, renal involvement (but delayed 5-10yr cf diffuse form of scleroderma)

• Diffuse cutaneous systemic sclerosis: rapidly progressive, widespread skin thickening, early cardiopulm, GI, M/skeletal, renal involvement
  • Skin 
    • Raynaud’s phenomenon
    • Bilateral symmetrical swelling of fingers, hands and feet → skin tightness
    • Initial phase – characterised by painless pitting oedema which on resolution leaves thick, tight skin
    • Characteristic phase – mask-like facies, beak nose, radial perioral furrows
    • Other skin changes: Atrophy, ulcerations, hyop- and hyper-pigmentation, matt telangiectasia, periungual erythema, pruritus
  • GI tract (90%)
    • Becomes a rigid tube → decreased motility
    • Distal oesophageal hypomotility → dysphagia in substernal region
    • Loss of LES → gastric reflux, ulcerations, strictures
    • Small bowel hypomotility → bacterial overgrowth, diarrhoea, bloating, cramping, malabsorption, weight loss
    • Large bowel hypomotility → infrequent cause of constipation (pathognomic radiographic finding on barium contrast studies are large bowel wide mouth diverticula)
  • Kidneys
    • “Scleroderma renal crisis” (10-15%) may lead to malignant HTN, oliguria, microangiopathic haemolytic anaemia
    • Mild proteinuria, creatinine elevation and/or hypertension are common
  • Lungs
    • Interstitial fibrosis, pulmonary HTN, pleurisy and pleural effusions
  • Heart
    • LV dysfunction, pericarditis, arrhythmias, pericardial effusion
  • Musculoskeletal
    • Polyarthralgias and sometimes frank polyarthritis affecting both small and large joints
    • Bones resorbed with subcutaneous calcifications (calcinosis)
    • “Resorption of distal tufts” (Radiological finding)
    • Proximal weakness secondary to disuse/atrophy/low grade inflammatory myopathy
  • Endocrine
    • May have hypothyroidism
• Patterns:
  • 2 subtypes divergent initially 🡪 converge later on
• Patients with CREST syndrome may also develop lung involvement and pulmonary HTN. 

Investigation

• ANA is usually positive, with an anti-centromere Ab (for CREST 60% sensitive, 98% specific)
• Anti-Scl70 (anti-topoisomerase I) may be positive: associated with increased risk of lung involvement.(for diffuse scleroderma 38% sensitive; 100% specific)
• Other ENA may be positive (large overlap component).

Management

• No single agent for scleroderma; management is aimed at targeting whatever the organ affected.

Pharmacological Management

1. Symptomatic treatment:
   • GORD: PPIs, then H₂ antagonists
   • Small bowel overgrowth: Broad-spectrum antibiotics
   • Renal disease: ACEi
   • Myositis/pericarditis: Steroids
2. Treatment of Pulmonary Hypertension
3. Management of Vascular Symptoms
   • Calcium-channel blockers
   • oral anticoagulation

Non-pharmacological management

involves a comprehensive approach focusing on physical activities, patient education, psychological support, and lifestyle adjustments, all aimed at improving the overall quality of life for patient.

1. Physical Activity and Lifestyle Advice: Advising patients on physical activity and lifestyle modifications is a common non-pharmacological intervention. This includes exercise programs tailored to individual capabilities and needs, which can help improve physical function and reduce symptoms (Willems et al., 2014).
2. Patient-Centered Care: The Scleroderma Patient-centred Intervention Network (SPIN) focuses on developing, testing, and disseminating accessible interventions designed to complement standard care and improve health-related QoL in scleroderma. This includes behavioral, psychological, educational, and physical/occupational therapy interventions (Thombs et al., 2012).
3. Training and Hand Exercises: Training of the hand and specific exercises to maintain mobility and function are important, especially for patients experiencing stiffness and joint problems.
4. Self-Management Interventions: Teaching patients self-management strategies is crucial. This involves educating them about the disease, its management, and ways to cope with the symptoms and daily life challenges.
5. Psychosocial Support: Addressing the emotional, psychological, and social aspects of living with scleroderma is vital. This includes counseling and support groups to help patients and their families cope with the disease (Kwakkenbos et al., 2015).
6. Holistic Approach to Treatment: It’s important to address various factors that alter daily function, including nutrition, pain, deconditioning, musculoskeletal disuse, comorbid conditions, and emotional aspects like fear, depression, and social withdrawal due to disfigurement (Shah & Wigley, 2013).

Prognosis

• In limited scleroderma, prognosis is good if there is no lung involvement.
• In diffuse scleroderma, prognosis is poor particularly if there are lung / heart / renal involvement.