Scleroderma: Causes, Symptoms, Diagnosis, and Treatment

Autoimmune conditions appear when the immune system mistakenly attacks the body’s own tissues, causing chronic inflammation and organ damage. They range from well-known diseases like rheumatoid arthritis and lupus to rarer ones such as scleroderma.

Scleroderma or systemic sclerosis causes the body to produce excessive collagen, leading to hardening and tightening of the skin and, in its systemic form, internal organs too.

This article explains scleroderma meaning, its causes, scleroderma symptoms, diagnosis, and its management.

What is Scleroderma?

Sclero’ means hard, and ‘derma’ means skin, so Scleroderma translates to ‘hard skin’. It is a chronic, rare autoimmune disorder in which the immune system triggers excessive collagen production, causing the skin and internal organs to harden and stiffen progressively.

There are two main types:

• Localised scleroderma: Affects only the skin and, in some instances, the underlying muscle or bone, without involving internal organs.
• Systemic sclerosis: Affects the skin as well as the internal organs, including the lungs, heart, kidneys, and gastrointestinal tract. It is divided into limited and diffuse subtypes.

What are the Causes of Scleroderma?

The exact scleroderma causes are not entirely understood. A combination of genetic predisposition, immune dysfunction, and environmental triggers leads to abnormal fibroblast activation and excessive collagen deposition, causing progressive fibrosis.

Known risk factors include:

• Genetic factors: Scleroderma is not directly inherited, but family members of affected individuals have higher rates of other autoimmune diseases.
• Sex: Women are more likely to develop scleroderma than men.
• Age: Systemic types typically develop between 30 and 50, though Indian patients present at a younger age on average.
• Environmental exposures: Prolonged exposure to certain harmful substances or chemicals increases risk.
• Co-existing autoimmune conditions: Those with lupus or rheumatoid arthritis have a higher risk of scleroderma.

What are the Symptoms of Scleroderma?

Scleroderma symptoms vary by type and organs involved.

Common symptoms include:

• Skin thickening, tightening, and shiny appearance, often starting at the fingers and hands
• Raynaud’s phenomenon, where fingers or toes turn white or blue in response to cold or stress
• Joint pain, stiffness, and swelling
• Fatigue and generalised weakness
• Difficulty swallowing and acid reflux, due to oesophageal involvement
• Shortness of breath, caused by lung fibrosis or pulmonary hypertension
• Scleroderma renal crisis, which is a sudden rise in blood pressure with rapid kidney function loss, seen particularly in the diffuse form

How is Scleroderma Diagnosed?

Diagnosing scleroderma requires clinical assessment, blood tests, and, where needed, imaging or biopsy. A rheumatologist typically leads the process, given the overlap with other autoimmune conditions.

Key diagnostic steps include:

• ANA test: An ANA test (antinuclear antibody test) is the first-line investigation, with scleroderma.
• Specific autoantibodies: Anti-Scl-70 and anti-RNA polymerase III antibodies are linked to diffuse scleroderma, while anticentromere antibodies indicate the limited form.
• Imaging: A high-resolution CT chest detects interstitial lung disease. Echocardiography evaluates pulmonary arterial pressure.
• Pulmonary function tests: These quantify lung restriction and help track disease progression.
• Skin biopsy: A biopsy showing excess collagen deposition supports the diagnosis when clinical and serological findings are inconclusive.

How is Scleroderma Managed?

There is no cure for scleroderma. The goals of scleroderma treatment are to control symptoms, protect organ function, and prevent complications through a multidisciplinary approach.

Common management approaches include:

• Immunosuppressive therapy to reduce the immune activity driving fibrosis
• Vasodilators and blood pressure medications for Raynaud’s phenomenon and scleroderma renal crisis.
• Antifibrotic medications for interstitial lung disease, where indicated
• Physiotherapy and hand exercises to preserve joint flexibility and skin elasticity.
• Regular monitoring of the lungs, heart, and kidneys to detect complications early.

Individuals experiencing skin changes, Raynaud’s phenomenon, or unexplained fatigue should see a doctor. An ANA test is often the first step toward diagnosing scleroderma. Book the ANA (ANF) test with Dr. Lal PathLabs for an accurate result. Download the Dr. Lal PathLabs app now for easy test bookings.

FAQs

1.What is the life expectancy of someone with scleroderma?

Life expectancy varies depending on the type of scleroderma and the organs involved. Localised forms do not affect life expectancy. In systemic sclerosis, lung fibrosis and pulmonary hypertension are the leading causes of death.

2.What organ is most affected in scleroderma?

The skin and lungs are the most frequently and severely affected internal organs. Interstitial lung disease and pulmonary hypertension cause the majority of disease-related deaths.

3. What blood test shows scleroderma?

The ANA test (antinuclear antibody test) is the primary blood test for scleroderma. Specific antibodies such as anti-Scl-70 and anticentromere antibodies help confirm the subtype.