Systemic Sclerosis (Scleroderma)

Systemic sclerosis, also known as scleroderma, is a rare, chronic autoimmune disease that primarily affects the skin but can also involve internal organs such as the lungs, heart, kidneys, and digestive tract.

The hallmark of systemic sclerosis is the excessive production of collagen, leading to fibrosis (scarring) of tissues, which causes hardening and thickening of the skin and other organs. The exact cause of systemic sclerosis is unknown, but it is believed to involve a combination of genetic and environmental factors that trigger the immune system to attack the body’s own tissues.

You may have symptoms of pain and inflammation in your:

What Are the Signs/Symptoms?

The symptoms of systemic sclerosis vary greatly from person to person and can range from mild to severe. The symptoms typically develop gradually and may involve both skin and internal organ systems.

Skin Symptoms

• Thickening and hardening of the skin, particularly on the fingers, hands, arms, and face.
• Sclerodactyly: Tightening of the skin around the fingers, leading to a "clawed" appearance.
• Raynaud's phenomenon: Blood flow to fingers and toes may be limited, causing them to turn white, blue, or red in response to cold or stress.
• Ulcers: Painful sores may form on the fingertips, known as digital ulcers.

Internal Organ Symptoms

• Lungs: Shortness of breath, dry cough, and in severe cases, pulmonary fibrosis (scarring of lung tissue) or pulmonary hypertension (increased pressure in the lung arteries).
• Heart: Arrhythmias, heart failure, and pericarditis (inflammation of the sac surrounding the heart).
• Kidneys: Kidney dysfunction or scleroderma renal crisis, which can lead to rapidly rising blood pressure and kidney failure.
• Gastrointestinal (GI): Difficulty swallowing (dysphagia), acid reflux, bloating, and constipation.
• Musculoskeletal: Joint pain, stiffness, and muscle weakness.

What Are Common Treatments?

There is no cure for systemic sclerosis, but treatment can help manage symptoms, slow disease progression, and improve quality of life. Treatment approaches depend on the type of systemic sclerosis and which organs are involved.

Medications:

• Immunosuppressive drugs: Medications like methotrexate, mycophenolate mofetil, or cyclophosphamide may be used to suppress the overactive immune system.
• Corticosteroids: These can help reduce inflammation but are typically used for short-term flare-ups due to their side effects.
• Proton pump inhibitors: To manage acid reflux and gastrointestinal symptoms.
• Calcium channel blockers: To treat Raynaud's phenomenon and improve blood flow to the extremities.
• Antifibrotic agents: These may help reduce tissue scarring in the lungs, such as nintedanib or pirfenidone.

Supportive Treatments:

• Physical therapy: To maintain mobility and prevent joint contractures.
• Occupational therapy: To assist with daily activities if hand function is impaired.
• Pulmonary rehabilitation: To improve lung function and manage pulmonary symptoms.
• Blood pressure management: If scleroderma renal crisis is diagnosed, managing blood pressure with medications like angiotensin-converting enzyme inhibitors (ACE inhibitors) can be life-saving.

Surgery:

• In rare cases, surgical interventions such as lung or kidney transplants may be required if organ failure occurs.