Scleroderma is a complex autoimmune disease. Its symptoms can be visible, affecting the skin, or invisible, affecting internal organs. For some people living with scleroderma, it affects both.
Ronnie Biddinger always feels cold. The Frederick resident wears gloves and hand warmers into the spring to comfort his chilled-to-the-bone hands. He has difficulty swallowing some foods and his voice, once strong and deep, is now raspy. Fatigue is constant.
Biddinger, 63, was diagnosed with scleroderma 21u2 years ago. Having a diagnosis for his physical health problems helps doctors treat the symptoms and affects of the disease, but there is no cure.
"Scleroderma is a very complicated disease. It manifests differently from person to person," said Kerri Connolly, program and services manager for the Scleroderma Foundation, based in Massachusetts. In the early stages, its symptoms are common to that of other autoimmune diseases, including lupus and rheumatoid arthritis, and it's not unusual for a diagnosis to be delayed three years.
Because the disease can affect any organ, patients often are under the care of multiple specialists, including dermatologists, gastroenterologists and cardiologists. "They are being sent to the appropriate specialists, but they need someone to look at the whole picture," Connolly said. The Scleroderma Foundation supports awareness programs for primary care physicians, as well as providing education and support for persons with the disease.
Biddinger is under the care of a primary care physician, a rheumatologist, dermatologist, cardiologist and gastroenterologist. The disease has affected his digestive system, causing internal bleeding in the stomach and caused esophageal dysfunction or poor functioning of the muscles in the esophagus, which can make swallowing difficult.
Before his diagnosis, Biddinger had other symptoms, including calcinosis -- deposits of calcium below the skin that form hard lumps or nodules. He has had them on his arms, legs, hands and face. "They are very painful, like raw nerves, at night when I lay on them," he said.
The coldness and pain in his hands are from Raynaud's phenomenon, which often appears before other symptoms of scleroderma. Raynaud's occurs when small blood vessels spasm in response to cold or emotional stress, blocking the flow of blood. Biddinger said he has also lost about 25 pounds since diagnosis. He has thickening of the skin on his hands and knees. And he needs regular testing to watch for pulmonary hypertension and signs of renal failure, as the disease can also affect the lungs and kidneys.
"Nobody was able to piece them together until the last few years," Biddinger said. "The symptoms are treatable but not curable."
Reducing stress and staying active are lifestyle changes that can help manage the disease. Biddinger and his wife, Kay, walk 12 to 15 miles a week, in addition to the physical activity of his work.
"You don't know what's coming next" with scleroderma, he said. "No two people have the same symptoms at the same time."
'Hard skin'
Scleroderma affects about 300,000 people in the U.S. About two-thirds of those have the localized form, which typically doesn't affect the internal organs. About one third have the systemic form, which can involve the skin, esophagus, gastrointestinal tract, lungs, kidneys, heart and other internal organs. The tissues of involved organs become hard and fibrous, causing them to function less efficiently. It affects women more often than men.
The word scleroderma comes from the Greek words meaning "hard skin." While the exact cause is unknown, one of the features of the disease is an overproduction of collagen, the main component of ligaments and joints, which it also helps make skin elastic and resilient. But when the body produces too much collagen, the protein forms thick bands of connective tissue around the cells of your skin, blood vessels and, in some cases, internal organs. It can make the skin feel tight and thick, and can affect performance of every day tasks such as opening a jar or shaving.
"Years ago, we didn't have a great understanding of this disease," Connolly said. "Research has come many miles and we've gotten better at identifying problems before they happen. The key is to identify them early and get the right treatment."
Recently, researchers at The University of Texas Health Science Center at Houston identified a new genetic link to the systemic form of scleroderma. The disease shares many susceptibility genes with lupus and other autoimmune diseases.
"With our latest discovery, we are probably one quarter of the way to finding the genes and pathways responsible for systemic scleroderma," said Dr. Maureen Mayes, in a news release from the university.
Mayes is one of the study's senior authors. "Once most of the important genes are found, we will be able to focus on developing interventions to block their activity."
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