Systemic Sclerosis (Scleroderma)

Systemic sclerosis, also called scleroderma, is an autoimmune condition that causes your body to produce too much collagen. Collagen is a protein that gives your skin and organs structure. When you make too much, your skin becomes tight and thick. Your blood vessels and internal organs can also become damaged.

There are two main types of systemic sclerosis. Limited cutaneous systemic sclerosis mainly affects the skin on your hands, arms, and face. Diffuse cutaneous systemic sclerosis affects larger areas of skin and is more likely to involve internal organs like your lungs, heart, and kidneys. Both types happen when your immune system mistakenly attacks healthy tissue.

Systemic sclerosis is rare. It affects about 250 people per million in the United States. Women develop this condition three to four times more often than men. Most people are diagnosed between ages 30 and 50. Early detection through blood testing helps doctors monitor the condition and start treatment before serious organ damage occurs.

• Tight, thick, or shiny skin on your fingers, hands, arms, or face
• Raynaud phenomenon, where your fingers turn white, blue, or red in cold temperatures
• Swelling in your hands and fingers, especially in the morning
• Difficulty swallowing or acid reflux
• Shortness of breath or persistent dry cough
• Fatigue and weakness that interferes with daily activities
• Joint pain or stiffness in your hands, wrists, or knees
• Small red spots on your skin called telangiectasias
• Calcium deposits under your skin that feel like small bumps
• Weight loss or digestive problems

Some people have mild symptoms for years before diagnosis. Others develop symptoms quickly. Raynaud phenomenon is often the first sign, appearing months or years before other symptoms. Not everyone experiences all symptoms. The pattern and severity vary greatly from person to person.

Systemic sclerosis develops when your immune system becomes overactive and attacks healthy connective tissue. This triggers inflammation and causes your body to produce excess collagen. Doctors do not know exactly why this happens. Your genes likely play a role, as the condition sometimes runs in families. However, most people with systemic sclerosis have no family history of the disease.

Certain environmental exposures may trigger the condition in people who are already at risk. These include silica dust, certain solvents, and some chemotherapy drugs. Women develop systemic sclerosis more often than men, suggesting hormones may influence disease development. The condition most commonly appears during or after childbearing years. Having another autoimmune condition, such as lupus or rheumatoid arthritis, may also increase your risk. Smoking can worsen blood vessel problems associated with the disease.

Doctors diagnose systemic sclerosis using a combination of physical examination, medical history, and blood tests. Your doctor will look at your skin texture and check for tightness or thickening. They will also ask about Raynaud phenomenon and other symptoms. Blood tests are essential for confirming the diagnosis and predicting disease patterns.

The ANA Screen, IFA test is positive in 85 to 95 percent of people with systemic sclerosis. This test detects antinuclear antibodies, proteins your immune system makes when it attacks your own cells. The specific pattern of ANA helps doctors identify which type of systemic sclerosis you have. Anti-centromere antibodies usually indicate limited cutaneous disease. Anti-Scl-70 antibodies, also called anti-topoisomerase I, typically appear in diffuse cutaneous disease. Anti-RNA polymerase III antibodies suggest diffuse disease with higher risk of kidney problems. Rite Aid offers ANA testing as an add-on to our flagship blood panel. Your doctor may also order imaging tests of your lungs, heart, or digestive system to check for organ involvement.

• Medications that suppress your immune system, such as methotrexate or mycophenolate, to slow disease progression
• Blood pressure medications called ACE inhibitors to protect your kidneys and treat high blood pressure
• Calcium channel blockers or other medications to manage Raynaud phenomenon and improve blood flow
• Proton pump inhibitors to reduce acid reflux and protect your esophagus
• Physical therapy and hand exercises to maintain flexibility and prevent joint stiffness
• Moisturizing lotions and skin protection to manage skin tightness and prevent cracking
• Avoiding smoking and cold exposure to reduce blood vessel spasms
• Eating smaller, frequent meals to manage digestive symptoms
• Regular monitoring with blood tests and imaging to catch organ problems early
• Pulmonary rehabilitation or oxygen therapy if lung disease develops