Scleroderma

Definition | Aetiology | Pathophysiology | Risk Factors | Signs and Symptoms | Investigations | Management | References

Definition

Scleroderma, also known as systemic sclerosis, is a chronic connective tissue disease characterised by skin thickening and hardening (sclerosis) and may also affect internal organs. It is a type of autoimmune disorder where the immune system attacks the body’s own tissues.

Aetiology

The exact cause of scleroderma is unknown, but it is believed to result from a combination of genetic and environmental factors. Key contributors include:

• Genetic predisposition, particularly in people with a family history of autoimmune diseases
• Environmental triggers, such as exposure to certain chemicals, including solvents and silica dust
• Vascular abnormalities, where blood vessel dysfunction contributes to the development of fibrosis
• Immune system dysregulation, leading to an abnormal autoimmune response and chronic inflammation

Pathophysiology

The pathophysiology of scleroderma involves:

• Excessive collagen deposition in the skin and other tissues, leading to fibrosis and hardening
• Vascular damage, resulting in reduced blood flow to affected areas and contributing to tissue ischemia
• Autoimmune activity, where immune cells attack the body’s own connective tissue, exacerbating inflammation and fibrosis
• Involvement of internal organs, such as the lungs, heart, kidneys, and gastrointestinal tract, which can lead to serious complications

Risk Factors

• Female gender, as scleroderma is more common in women
• Age between 30 and 50 years
• Family history of scleroderma or other autoimmune diseases
• Exposure to certain environmental factors, such as silica dust or organic solvents
• Having other autoimmune diseases, which may increase the risk of developing scleroderma

Signs and Symptoms

The signs and symptoms of scleroderma can vary depending on whether the disease is localised or systemic and may include:

• Skin changes, such as thickening, hardening, and tightness, often starting in the fingers and hands (sclerodactyly)
• Raynaud's phenomenon, characterised by colour changes in the fingers and toes in response to cold or stress
• Joint pain and stiffness, particularly in the hands and wrists
• Gastrointestinal symptoms, such as acid reflux, difficulty swallowing (dysphagia), and bloating
• Lung involvement, leading to shortness of breath and pulmonary fibrosis
• Cardiac symptoms, such as arrhythmias or heart failure, in severe cases
• Kidney involvement, leading to scleroderma renal crisis, which can cause sudden severe hypertension and kidney failure

Investigations

Specific investigations to diagnose scleroderma include:

• Blood tests: Autoantibody testing, particularly anti-centromere antibodies (ACA) and anti-Scl-70 (topoisomerase I) antibodies, which are markers of the disease.
• Nailfold capillaroscopy: A non-invasive test to examine capillary abnormalities in the nailfold, which are common in scleroderma.
• Pulmonary function tests: To assess lung function and detect pulmonary fibrosis or other lung involvement.
• High-resolution CT scan: To evaluate the extent of lung fibrosis and other internal organ involvement.
• Echocardiogram: To assess heart function and detect pulmonary hypertension or other cardiac complications.
• Renal function tests: To monitor kidney function and detect scleroderma renal crisis early.

Management

Primary Care Management

• Symptomatic treatment: Use of moisturisers and emollients to manage skin dryness and tightness.
• Pain management: NSAIDs or other analgesics to manage joint pain and stiffness.
• Management of Raynaud's phenomenon: Lifestyle modifications, such as keeping warm, and medications like calcium channel blockers (e.g., nifedipine) to improve blood flow.
• Gastrointestinal management: Proton pump inhibitors (PPIs) for acid reflux and dietary modifications for gastrointestinal symptoms.
• Lifestyle modifications: Encouraging smoking cessation, as smoking can worsen vascular symptoms, and maintaining regular physical activity to preserve joint mobility.

Specialist Management

• Referral to rheumatology: Early referral for patients with suspected or confirmed scleroderma for specialist management and monitoring.
• Immunosuppressive therapy: Medications such as methotrexate, mycophenolate mofetil, or cyclophosphamide may be used to manage systemic involvement and slow disease progression.
• Management of pulmonary involvement: Treatment of pulmonary fibrosis with medications like nintedanib or pirfenidone, and management of pulmonary hypertension with endothelin receptor antagonists, phosphodiesterase-5 inhibitors, or prostacyclin analogues.
• Management of renal crisis: Immediate treatment with ACE inhibitors (e.g., captopril) for scleroderma renal crisis to control blood pressure and preserve kidney function.
• Regular monitoring: Ongoing assessment of disease activity, organ involvement, and treatment side effects, including periodic blood tests, pulmonary function tests, and imaging studies.

References

1. NHS (2024) Scleroderma. Available at: https://www.nhs.uk/conditions/scleroderma/ (Accessed: 24 June 2024).
2. National Institute for Health and Care Excellence (2024) Systemic Sclerosis (Scleroderma). Available at: https://cks.nice.org.uk/topics/systemic-sclerosis/ (Accessed: 24 June 2024).
3. British Medical Journal (2024) Scleroderma: Clinical Features, Diagnosis, and Management. Available at: https://www.bmj.com/content/350/bmj.h3030 (Accessed: 24 June 2024).
4. American College of Rheumatology (2024) Scleroderma (Systemic Sclerosis). Available at: https://www.rheumatology.org/I-Am-A/Patient-Caregiver/Diseases-Conditions/Scleroderma-Systemic-Sclerosis (Accessed: 24 June 2024).

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