Scleroderma: The Autoimmune Disease You Probably Haven’t Heard Of

By Fayyaz Ahmed, MD

Scleroderma is an autoimmune disease that causes stiffening and swelling of connective tissue. As with all autoimmune conditions, the immune system mistakenly attacks healthy tissues. In this case, the connective tissues responsible for strengthening and shaping organs and muscles become thick and stiff, leading to excess collagen production, inflammation, and pain. While it may seem that more collagen in skin would be a good thing, in the case of scleroderma the collagen hardens, which significantly changes the texture and appearance of the skin.

There are two main forms of scleroderma: localized and systemic. Localized is more common and only affects the skin, usually in a few spots. Systemic is more serious because it can also affect blood vessels, muscles, organs, and the digestive system.

Of the approximately 300,000 Americans diagnosed with scleroderma, most began noticing symptoms between the age of 30 and 50. Women are four times more likely than men to be diagnosed with the condition.

Symptoms of Scleroderma

Depending on the type of scleroderma and which organs and systems are affected, symptoms may vary. The most common are:

• Hardened, tight, and sometimes shiny patches of skin that may be oval-shaped or in a straight line and may appear red or bruise-like
• Fingers or toes that are painful, numb, or turn blue in response to small blood vessels constricting or shrinking
• Heartburn, difficulty swallowing, cramping, bloating, diarrhea, constipation, and nutritional deficiencies (if the digestive system is affected)
• Renal crisis, heart disease, pericarditis, high blood pressure, pulmonary fibrosis, and pulmonary hypertension (if organs are affected)

Scleroderma Causes and Risk Factors

The exact cause of scleroderma isn't known, but there are some risk factors that may play a role in its development.

• Genetics - Scleroderma may run in families, and it may be caused by certain gene variations.
• Environmental triggers - Because some people with the disease seem to experience worse symptoms when exposed to certain viruses, medications, substances, and chemicals, it's believed that repeated or prolonged exposure could contribute.
• Other autoimmune conditions - Many people with scleroderma also have other autoimmune conditions, such as rheumatoid arthritis, Sjogren's syndrome, and lupus.

Treatment of Scleroderma

While there's no cure for the disease, there are treatments that can help manage the symptoms of scleroderma. The following treatments may be used in combination depending on the type of scleroderma and symptoms experienced.

• Topical medications and moisturizers to help keep skin from drying out and hardening.
• Methotrexate (MTX) or mycophenolate mofetil (MMF) to suppress the immune system and decrease inflammation.
• Calcium channel blockers to help improve blood flow and cause arteries to dilate.
• Over-the-counter antacids, proton pump inhibitors (Prevacid, Nexium), and H-2 receptor blockers (Zantac, Pepcid) to help prevent heartburn and other digestive issues.
• Anti-inflammatory medications for those experiencing joint problems.
• Mycophenolate for those who have developed lung disease from systemic scleroderma. Tocilizumab and cyclophosphamide may also be used for some patients.

To help manage symptoms, doctors may also suggest diet and lifestyle changes to help manage symptoms, including avoiding certain foods, changing skincare products, wearing loose-fitting clothing, reducing stress, and exercising.

When under a doctor's care and when symptoms are managed, most people with scleroderma live healthy, productive lives. While complications can arise with systemic scleroderma, the disease's five-year survival rate is 90% and 84% of people with the disease live beyond 10 years.