What is scleroderma?
Scleroderma, a Greek word meaning "hard skin," is a disease in which affected tissue hardens or thickens in response to the overproduction and accumulation of collagen, connective tissue that supports the skin and internal organs. Scleroderma is an autoimmune disorder in which, for unknown reasons, the immune system stimulates cells to produce excess collagen.
There are two main types of this disease:
- Localized scleroderma affects limited areas of the skin and musculoskeletal system; it can make the hands waxen and immobile.
- Systemic scleroderma is more widespread and can result in damage to the lungs, heart and kidneys, cause arthritis, slow gastrointestinal tract contraction, inflame muscles and cause dry eyes and dry mouth. Systemic scleroderma can be fatal.
What are the symptoms?
Symptoms vary depending on which organ systems are involved; those that occur most often include the following:
- Raynaud’s phenomenon. With Raynaud’s phenomenon, the fingers (or toes) turn white, then blue upon exposure to cold or in response to emotional stress. The affected fingers feel cold and numb. As blood flow returns to normal, the fingers turn red and throb, tingle, swell or feel numb or painful. In severe cases, restricted blood flow can permanently damage tissue at the fingertips.
- Gastroesophageal reflux disease (GERD). Here, stomach acid flows backward up the esophagus (the tube that carries food from the mouth to the stomach), causing heartburn and a bitter or sour taste in the mouth. These symptoms usually last a few hours after a meal and then disappear. Most people experience acid reflux from time to time, usually after eating certain foods. Acid reflux that occurs more than twice a week is called gastroesophageal reflux disease (GERD).
- Skin changes. Among these changes may be swollen fingers and hands; thickened patches of skin, particularly on the fingers and tight skin around the hands, face or mouth. Tightened skin may look shiny, and movement in the affected area may be limited.
- Morphea. A type of localized scleroderma, morphea causes thickened, oval patches on the skin with a white center and reddish or purplish border. These patches can show up in a few places or all over the body. The patches usually fade after a few years, although the skin may be permanently darkened where they appeared.
- Linear scleroderma. Most common in children, this type of scleroderma shows up as streaks or bands of thickened skin on the arms, legs or forehead, typically only on one side of the body.
- Systemic scleroderma: With this type of scleroderma, blood vessels and internal organs in addition to the skin are affected. Subcategories are defined by the specific body parts affected. With systemic scleroderma, skin changes may develop suddenly and worsen progressively over a year or two. Then, the changes tend to subside, and may resolve on their own without treatment.
- Complications: Scleroderma can lead to a number of serious complications including scarring of lung tissue, high blood pressure in the arteries to the lungs (pulmonary hypertension). When scleroderma affects the kidneys, it can lead to high blood pressure and in severe cases, rapid kidney failure. The disease can also cause serious heart complications. Dental problems can occur if tightening of facial skin makes it difficult to open the mouth enough to brush the teeth or have dental work done. Digestive problems can also occur, as can sexual problems including erectile dysfunction in men and decreased sexual lubrication in women.
What are the causes of scleroderma?
Scleroderma is an autoimmune disease, and like many such diseases its causes are obscure. It develops more often in women than men and can occur at all ages, even among children. Localized scleroderma tends to occur before age 40; it is most common in people of European descent. Systemic scleroderma tends to develop between the ages of 30 and 50 and is more common in African-Americans than whites. Strangely, Choctaw Native Americans in Oklahoma have at least 20 times the risk of the general population; but this increased risk isn’t shared by Choctaws living in Mississippi.
Some environmental exposures have been linked to scleroderma. These include silica dust common in coalmines and rock quarries, paint thinners and some other industrial solvents, some adhesive and coating materials and certain chemotherapy drugs. Since the disease affects mostly women, particularly during their childbearing years, some researchers have suggested that estrogen may play a role.
How is scleroderma diagnosed?
No specific medical test can diagnose scleroderma. Instead, diagnosis is based on ruling out other possible causes of the symptoms. The following medical tests can help confirm a diagnosis when scleroderma is suspected:
- A blood test for antitopoisomerase-1 or anti-Scl-70 antibodies found in up to 40 percent of people with diffuse systemic sclerosis.
- A blood test for anticentromere antibodies found in up to 90 percent of people with limited systemic sclerosis.
- Chest x-rays and pulmonary function tests may be ordered to evaluate lung status; other tests may be recommended to assess gastrointestinal tract function.
What is the conventional treatment?
The medical doctors who treat scleroderma are generally rheumatologists who specialize in arthritis and other inflammatory disorders. However, other medical specialists can diagnose scleroderma including an internist, a dermatologist, an orthopedist or a pulmonologist (a lung specialist). No medical treatment can correct the process that leads to scleroderma. In many cases, lifestyle changes are recommended in order to cope with and reduce specific symptoms. These can range from not smoking, regular physical exercise, moisturizing skin frequently and taking your blood pressure several times a week (especially if you have kidney involvement).
Drug treatment may be recommended for specific symptoms and to prevent the disease from worsening:
- Raynaud’s phenomenon: Treatment often focuses on lifestyle changes to protect against cold temperatures. If these don’t help, prescription drugs that dilate blood vessels may be prescribed. These include calcium-channel blockers usually given to treat high blood pressure. Other options are alpha-blockers, drugs that counteract norepinephrine (a hormone that constricts blood vessels), and vasodilators that relax blood vessels. No drug works reliably for all patients, so finding the right one may require a process of trial and error and even a drug that appears to work well may not be effective long-term. If skin sores or gangrene develop as a result of Raynaud’s, antibiotics may be prescribed and sometimes surgery may be necessary to remove tissues damaged by gangrene. In severe cases, nerve blocks may be recommended to control the arteries in the hands and feet.
- GERD: Several different drugs may be prescribed to decrease stomach acid production and minimize symptoms. These include proton-pump inhibitors and H-2 blockers. Antacids may be recommended to relieve symptoms by neutralizing excess stomach acid. Additionally, elevating the head of the bed to allow gravity keep acid in the stomach and being certain not to eat right before lying down can be helpful as well.
- Pulmonary hypertension: Drug treatment may include prostaglandins, which relax blood vessels and increase the flow of blood to the lungs. Another type of drug, endothelin receptor antagonists, have the same effect but work by blocking the hormone endothelin, which can narrow blood vessels.
What therapies does Dr. Weil recommend for scleroderma?
Dr. Weil recommends the following measures to patients with all types of autoimmune diseases, including scleroderma:
- Consume a low-protein, high-carbohydrate diet. Eliminate milk and milk products including commercial foods made with milk. Minimize intake of foods of animal origin.
- Having celiac disease increases the risk of having an autoimmune disease. Considering talking to your healthcare provider about being properly screened.
- Increase consumption of food sources of omega-3 fatty acids such as oily fish and walnuts.
- Do regular aerobic exercise.
- Practice relaxation techniques and experiment with mind-body techniques such as biofeedback, self-hypnosis, meditation, visualization and imagery.
- Avoid practitioners who make you feel pessimistic about your condition. Autoimmune diseases wax and wane, often mirroring emotional ups and downs, so it is important to work with a practitioner who emphasizes the possibility of positive outcomes and encourages experimentation.
In addition to the recommendations above, Dr. Weil suggests that scleroderma patients take note of the advice below from Steven Gurgevich, Ph.D., clinical assistant professor of medicine at the Arizona Center for Integrative Medicine at the University of Arizona. Dr. Gurgevich says his first instruction to patients with a new diagnosis "don’t panic" because the disease is so variable and because so many therapeutic tools are available. He encourages patients to educate themselves about the disease itself as well as about all the methods of treatment and available support resources. Here’s a summary of his recommendations:
- Build your diet around nourishing foods that are easy to eat and swallow.
- If your hands are involved, look for the many available adaptive utensils, tools and aids to ease holding, gripping and reaching.
- Organize your home with anything that helps compensate for the symptoms such as handles and doorknobs with loops and hooks that are easier to use and handrails in the bathroom and shower.
- Learn to ignore those who share negative thoughts and ideas with you.
- Stay socially active and educate friends and family members about the disease so they can support and help you.
- Join a support group if you can find one that lifts your spirits and generates good information.
- Share your story with others and record your thoughts and feelings in a journal.
- Use your body – yoga, qigong, and tai chi can be helpful. Do daily stretches.
- Nurture your spirit through formal or informal practice; choose a path that feels right to you.