Medical Edge Newspaper Column

Living With Scleroderma

June 4, 2007
Dear Mayo Clinic:
My daughter has recently been diagnosed with scleroderma. Can you tell me what causes it, what treatments are available, and whether it is curable? — Tucson, Ariz.

Answer:
We don't know what causes scleroderma, a chronic condition in which collagen — a fibrous type of protein that makes up the body's connective tissues — is overproduced and accumulates. Symptoms may include areas of thickened, hardened, and tightened skin; stiffness in the joints; and numbness, pain, or color changes in the fingers, often brought on by cold or emotional distress. This latter collection of traits, called Raynaud's phenomenon, is nearly universal among scleroderma patients.

Researchers suspect that there is a genetic link. Scleroderma can run in families, though most patients have no family history of the disease. The theory is that while a specific genetic trait predisposes the individual, scleroderma will only occur after exposure to some environmental agent, such as a particular virus. Genes are also thought to determine the severity of the case; while some patients have symptoms that are limited in extent and barely evident, others may suffer from widespread and systemic effects. It is not known, however, what genes are involved or what the critical environmental exposures may be, though scientific investigations are under way.

Because a true cure implies solid understanding of the cause, there's no cure for scleroderma, either. However, as with many other incurable chronic diseases, such as diabetes, scleroderma can be managed. Not only can scleroderma's symptoms be alleviated; so can its potential complications, some of which can become serious if not promptly treated. Meanwhile, current research is focusing on the immune system, which is believed to play a central role in collagen's overproduction.

Scleroderma can affect not only the skin but also the blood vessels and internal organs. As a result, complications may arise that affect the gastrointestinal system, heart, lungs, or kidneys. Digestive problems — ranging from poor absorption of nutrients to delayed movement of food — sometimes result from impaired muscular activity in the intestines. And when scleroderma affects the muscular lining of the esophagus, heartburn may occur. Similarly, scarring of lung tissue can cause reduced lung function; and a patient may also develop high blood pressure in the arteries to the lungs (pulmonary hypertension).

Medical treatments can reduce or prevent nearly all such complications. For example, bosentan (Tracleer) helps protect the heart and lungs by reducing pulmonary hypertension. It also improves circulation in the fingers. Angiotensin-converting enzyme (ACE) inhibitors, such as captopril (Capoten), similarly improve circulation and reduce systemic high blood pressure, even if it has soared to "malignant," or very high, levels. ACE inhibitors also help protect the scleroderma patient from kidney failure.

For digestive difficulties, doctors may prescribe antibiotics, special diets, medications that improve the gut's ability to contract, and, for relieving heartburn, drugs that decrease stomach-acid production.

Remedies exist as well for scleroderma's characteristic skin problems. Topical treatments, such as a moisturizers or corticosteroid medications applied to the skin, can be effective for problem areas that are limited in extent. When the condition involves a large area of skin, doctors may additionally prescribe minocycline (Minocin, Dynacin). Light therapy (phototherapy) has shown promise in treating lesions associated with scleroderma. Various cosmetic treatments — ranging from types of foundation makeup to laser surgery — are also available.

Self-care methods and coping skills are important in scleroderma, as in other chronic conditions. Exercise, for example, keeps the body flexible, improves circulation, and relieves stiffness. Wearing mittens (as opposed to gloves) and layers of warm clothing during the winter, together with not smoking (which causes blood vessels to contract), helps protect the hands from Raynaud's phenomenon. And because scleroderma often obliges patients to readjust their views of what they can and cannot do, psychologists may help them put things in perspective. Similarly, participating in support groups is an excellent way to share experiences and feelings with other people.

Meanwhile, it is important to see one's doctor regularly — at least once a year, for instance, to check on the state of the body's organs.

— Thomas G. Osborn, M.D., Rheumatology, Mayo Clinic, Rochester, Minn.