Expert Stress the Need for More Research on Scleroderma

by VR Sreeraman on  June 7, 2008 at 5:08 PM General Health News
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 Expert Stress the Need for More Research on Scleroderma
With an estimated 14 million cases worldwide, you would think more would be known about scleroderma, a chronic, debilitating disease that can lead to the hardening and tightening of skin and connective tissue. But it seems that we don't know enough: "We don't have all the answers and that is the reason why we need to do more research," says Carol Feghali-Bostwik, Ph.D., assistant professor of medicine at the University of Pittsburgh.

What we do know is that scleroderma is at least three times more common in women than in men, according to the National Institutes of Health. The cause remains unknown. The incidence peaks between the ages of 35 and 54 and the disease course varies greatly from person to person. For some people, the disease remains local and mostly affects the skin of the face and hands, causing it to tighten and thicken. For others, the disease is systemic and more severe, affecting the skin and other organs including the kidneys, gastrointestinal tract, heart, lung and joints. In these areas, it can cause damaging fibrosis, which is the abnormal formation or development of excess fibrous connective tissue in an organ or tissue.

Like other autoimmune diseases, scleroderma seems to hit women harder. "We don't quite know why it's more frequent in women but believe that hormonal influences may be responsible for the female preponderance," Feghali-Bostwik said. "There is evidence from animal studies that estrogens play a role in the development of fibrosis."

Having a family member with scleroderma seems to increase a person's risk for developing the disease, but other factors may be at play. "Familial studies suggest that there is an increased risk in first degree relatives of scleroderma patients," Feghali-Bostwik said, but "our studies looking at concordance of scleroderma in twins suggest than an inherited genetic background is not sufficient to develop scleroderma."

Some studies indicate that environmental factors may be involved in causing the disease. "Scleroderma is likely a multigenic disease with environmental components serving as triggers. These environmental factors possibly trigger scleroderma in individuals with a susceptible genetic background," explains Feghali-Bostwik.

Scleroderma can be difficult to diagnose because the symptoms can mimic many other diseases, especially if the joints are involved. If scleroderma is suspected, a doctor often takes a thorough history. During the physical exam, the doctor will check for thickened or hardened areas on the skin.

Raynaud's phenomenon, which is a disorder that affects the blood vessels in the fingers, toes, ear and nose, can be a sign of scleroderma. Doctors may order blood tests and/or take a tissue sample. People with scleroderma often have an elevation of certain antibodies and increased collagen production on skin biopsy.

There is currently no cure for scleroderma, but the symptoms can be managed with appropriate treatment. Topical treatments such as moisturizers and corticosteroids may help ease the skin symptoms. Medications such as anti-inflammatory drugs can ease joint stiffness and circulation problems can be addressed with calcium channel blockers and ACE inhibitors, which are most commonly used to treat high blood pressure. Other medications can help with digestive or pulmonary issues. More research is needed to shed light on this disease and hopefully make more progress toward a cure.

Source: Newswise

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