What Is Systemic Sclerosis?

Systemic sclerosis is an autoimmune disorder where the immune system mistakenly attacks the body’s tissues, leading to fibrosis or thickening and hardening of the skin and connective tissues. It predominantly affects the skin but can also involve internal organs such as the lungs, heart, kidneys, and digestive tract.

Types of Systemic Sclerosis

There are two primary forms of systemic sclerosis:

Limited Cutaneous Systemic Sclerosis (lcSSc)

This type primarily affects the skin on the face, hands, and forearms. It progresses more slowly and has a relatively better prognosis than the diffuse form.

Diffuse Cutaneous Systemic Sclerosis (dcSSc)

This form is more severe and involves widespread skin involvement as well as significant internal organ involvement. It progresses rapidly and can lead to serious complications.

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Symptoms of Systemic Sclerosis

Symptoms of systemic sclerosis can vary widely depending on the organs affected and the severity of the disease. Common symptoms include:

Skin Symptoms

Thickening and tightening of the skin
Raynaud's phenomenon (a condition where fingers and toes turn white or blue in response to cold or stress)
Digital ulcers and telangiectasias (small, widened blood vessels visible on the skin)

Musculoskeletal Symptoms

Joint pain and stiffness
Muscle weakness

Gastrointestinal Symptoms

Difficulty swallowing (dysphagia)
Gastroesophageal reflux disease (GERD)
Bowel dysfunction including constipation and diarrhea

Pulmonary Symptoms

Shortness of breath
Pulmonary hypertension (high blood pressure in the lungs)
Interstitial lung disease (ILD)

Cardiac Symptoms

Irregular heartbeats (arrhythmias)
Pericarditis (inflammation of the pericardium, the lining around the heart)

Renal Symptoms

Hypertension
Renal crisis (sudden onset of severe high blood pressure and kidney failure)

Causes and Risk Factors

The exact cause of systemic sclerosis is unknown. However, it is believed to involve a combination of genetic and environmental factors. Risk factors that may contribute to the development of systemic sclerosis include:

Genetic predisposition
Exposure to certain environmental triggers (e.g., silica dust, organic solvents)
Gender (more common in women)
Age (typically develops between the ages of 30 and 50)

Diagnosis of Systemic Sclerosis

Diagnosing systemic sclerosis involves a combination of clinical evaluation, laboratory tests, and imaging studies. Key diagnostic tools include:

Clinical Evaluation

A thorough medical history and physical examination are crucial for identifying characteristic symptoms and signs of systemic sclerosis.

Laboratory Tests

Antinuclear antibody (ANA) test: Often positive in systemic sclerosis patients
Specific autoantibodies: Anti-centromere, anti-Scl-70, and anti-RNA polymerase III

Imaging Studies

High-resolution computed tomography (HRCT) of the chest: For assessing lung involvement
Echocardiography: To evaluate heart function and detect pulmonary hypertension

Other Diagnostic Tools

Nailfold capillaroscopy: To examine capillaries in the nailfold for abnormalities
Pulmonary function tests (PFTs): To assess lung function

Systemic Sclerosis Complications

Systemic sclerosis can lead to a range of complications, some of which can be life-threatening. These include:

Lung Complications

Interstitial lung disease (ILD): Scarring and inflammation of the lung tissue
Pulmonary hypertension: Increased blood pressure in the pulmonary arteries

Heart Complications

Arrhythmias: Irregular heartbeats
Heart failure: Reduced ability of the heart to pump blood effectively

Kidney Complications

Scleroderma renal crisis: Acute kidney failure and severe hypertension

Gastrointestinal Complications

Malabsorption: Difficulty absorbing nutrients from food
Severe GERD: Leading to esophageal strictures and Barrett’s esophagus

Systemic Sclerosis Treatment

Currently, there is no cure for systemic sclerosis. However, various treatments aim to manage symptoms, slow disease progression, and improve quality of life. Treatment strategies include:

Medications

Immunosuppressants: To reduce immune system activity (e.g., methotrexate, mycophenolate mofetil)
Vasodilators: To improve blood flow and manage Raynaud’s phenomenon (e.g., nifedipine, sildenafil)
Antifibrotic agents: To reduce fibrosis (e.g., nintedanib, pirfenidone)
Proton pump inhibitors (PPIs): To manage GERD

Physical and Occupational Therapy

Exercises to maintain joint flexibility and muscle strength
Techniques to manage daily activities and conserve energy

Lifestyle Modifications

Avoiding cold exposure and stress to minimize Raynaud’s attacks
Eating small, frequent meals to ease gastrointestinal symptoms

Surgical Interventions

In severe cases, surgical procedures may be necessary, such as:

Lung transplantation for end-stage lung disease
Digital sympathectomy to improve blood flow to the fingers

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Prognosis and Management

The prognosis of systemic sclerosis varies widely depending on the type, extent of organ involvement, and response to treatment. Early diagnosis and a multidisciplinary approach to management are crucial for improving outcomes. Regular monitoring and adjustments to the treatment plan are essential to address complications and enhance the quality of life.

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