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Stories for Reprint
Despite Great Strides in Treating Scleroderma, Disorder Still Puzzles Doctors
By Katerina Pesheva
Scleroderma, a condition affecting some 300,000 people in the United States, is a disorder marked by thickening and hardening of the skin of the face and the body and, sometimes, of the internal organs.
Its description alone sounds like something straight out of a science fiction novel. But while most of the symptoms and complications of scleroderma can be successfully managed, its cause remains a mystery.
Scleroderma has two forms. The localized form is limited to the skin and rarely, if ever, progresses farther.
The other form of the disease, called systemic scleroderma, is a progressive form that can affect one or several organs, most often the kidneys, the esophagus or the lungs.
Excessive deposits of collagen are the direct culprit for the hardening of the skin and organs typical of scleroderma. However, the underlying mechanism that triggers collagen overproduction is unclear.
Many scientists believe that scleroderma is essentially an autoimmune disorder, or a disorder caused by an immune system gone into overdrive that mistakenly destroys its own cells.
But some speculate that the antibodies and inflammation are not the cause, but rather the effect of scleroderma. Thus, it remains unclear whether the misfiring antibodies so typical of other autoimmune conditions are what triggers scleroderma or merely a symptom of the disease.
"Scleroderma is more of a disease of unchecked fibrosis," says Mitchell Watsky, Ph. D., associate professor of physiology at the University of Tennessee. "It's a disease of the body's wound-healing system gone awry."
Some studies suggest that environmental factors, such as exposure to chemicals like vinyl chloride, play a role in scleroderma. Researchers, however, believe that environmental elements trigger scleroderma in genetically predisposed people, but do not necessarily cause the disease.
Scleroderma is not an equal-opportunity disorder. It discriminates. Some 90 percent of the time, it strikes women, usually under the age of 45.
Because the exact cause and mechanism of scleroderma is unknown, there is no cure for it. So far, physicians can only treat the symptoms and curb the progression of the disease. Depending on which internal organs are involved, physicians use a variety of medications.
Survival among people with scleroderma has been inching up steadily. Twenty years ago, the normal survival rate was five to 10 years after diagnosis.
"Many patients do really well and have not nearly the mortality we used to have," says Dr. Terry Moore, Chief of Rheumatology at St. Louis University. "We have quite a few who survive 20 and 25 years."
Moore attributes the improved survival to earlier and more aggressive treatment, but timely treatment is of the essence as well. Therefore, it is crucial that primary-care physicians, as the gatekeepers to specialized care, recognize the signs of scleroderma fast and refer patients to a rheumatologist.
Fortunately, once scleroderma is suspected, a rheumatologist should be able to rule out or
confirm the diagnosis fairly quickly. Often the very first sign of scleroderma is Raynaud's Syndrome, a condition where the fingers turn white when exposed to cold.
Quite a few people have Raynaud's, but not all of them have scleroderma. However, it is essential for everyone who has this symptom to be evaluated by a physician to rule out scleroderma, Moore recommends.
Other early signs of scleroderma include:
Swelling of the fingers and hands, which progresses into thickening of the skin
Tautness and hardening of the skin of the hands, which may spread to the forearms, trunk, face and feet
Hard patches on the skin, usually white in color
Lines of thickened skin on the arms, legs and forehead
Hair loss
Heartburn and indigestion
Once diagnosed, scleroderma is best managed by a rheumatologist. If internal organs are involved, the case is best managed in tandem with other specialists.
Although significant progress has been made in scleroderma research, much more remains to be done.
"On the funding level, with just 300,000 people, drug companies don't have the financial incentive to invest in drug research and the government doesn't have the political pressure to invest in research," Watsky says.
The International Scleroderma Network is urging people to lobby federal legislators to approve a bill that calls for $500,000 for scleroderma research in the 2006 federal budget. To learn more on how to lobby your legislator or to learn more about scleroderma, visit www.sclero.org
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