MEDICAL CONDITIONS
Scleroderma
What is scleroderma?
Scleroderma is an autoimmune disease of the connective tissue. Autoimmune diseases are illnesses which occur when the body's tissues are attacked by its own immune system. Scleroderma is characterized by the formation of scar tissue (fibrosis) in the skin and organs of the body. This leads to thickness and firmness of involved areas. Scleroderma is also referred to as systemic sclerosis.
The cause of scleroderma is not known. Researchers have found some evidence that genes are important factors, but the environment seems to also play a role. This means that inheritance at least play a partial role. It is not unusual to find other autoimmune diseases in families of scleroderma patients. Some evidence for the role genes may play in leading to the development of scleroderma comes from the study of Choctaw Native Americans who are the group with the highest reported prevalence of the disease. The disease is more frequent in females than in males.
How is scleroderma classified?
Scleroderma can be classified in terms of the degree and location of the skin involvement. Accordingly, scleroderma has been categorized into two major groups, diffuse and limited.
The diffuse form of scleroderma is involves symmetric thickening of skin of the extremities, face, trunk (chest, back, abdomen, or flanks) which can rapidly progress to hardening after an early inflammatory phase. Organ disease can occur early on and be serious. Organs affected include the esophagus, bowels, lungs with scarring (fibrosis), heart, and kidneys. High blood pressure can be a troublesome side effect.
The limited form of scleroderma tends to be confined to the skin of the fingers and face. The skin changes and other features of disease tend to occur more slowly than in the diffuse form. Because a characteristic clinical pattern can occur in patients with the limited form of scleroderma, this form has taken another name which is composed of the first initials of the common components. Thus, this form is also called the CREST variant of scleroderma. This name represents the following features:
C.....Calcinosis, refers to the formation of tiny deposits of calcium in the skin. This is seen as hard whitish areas in the superficial skin, commonly overlying the elbows, knees, or fingers. These firm deposits can be tender, can become infected, and can fall off spontaneously or require surgical removal. This is the least common of the CREST scleroderma variant features.
R..... Raynaud's phenomenon refers to the spasm of the tiny artery vessels supplying blood to the fingers, toes, nose, tongue, or ears. These areas turns blue, white, then red after exposure to extremes of cold, or even sometimes with extremes of heat or emotional upset. For more information, please read the Raynaud's Phenomenon article.
E.....Esophagus disease in scleroderma is characterized by poorly functioning muscle of the lower 2/3 of the esophagus. This can lead to an abnormally wide esophagus which allows stomach acid to backflow into the esophagus to cause heartburn, inflammation, and potentially scarring. This can eventually lead to difficulty in passing food from the mouth through the esophagus into the stomach. Symptoms of heartburn are treated aggressively in patients with scleroderma in order to prevent injury to the esophagus.
S.....Sclerodactyly refers to the localized thickening and tightness of the skin of the fingers or toes. This can give them a "shiny" and slightly puffy appearance. The tightness can cause severe limitation of motion of the fingers and toes. These skin changes generally progress much slower that those of patients with the diffuse form of scleroderma.
T.....Telangiectasias are tiny red areas, frequently on the face, hands and in the mouth behind the lips. These areas blanch when they are pressed upon and represent dilated capillaries.
Patients can have variations of CREST, i.e. CRST, REST, ST, etc. Patients can also have "overlap" illness with features of both CREST and the diffuse form of scleroderma. Some patients have overlaps of scleroderma and other connective tissue diseases, such as rheumatoid arthritis , systemic lupus erythematosus , and polymyositis . When features of scleroderma are present along with features of polymyositis and systemic lupus erythematosus, the condition is referred to as mixed connective tissue disease (MCTD).
Finally, scleroderma skin changes can be very localized. Morphea is scleroderma skin that is localized to a patchy area of the skin that becomes hardened and slightly pigmented. Sometimes morphea can cause multiple lesions in the skin. Linear scleroderma is scleroderma that is localized usually to a lower extremity, frequently presenting as a strip of hardening skin down the leg of a child. Linear scleroderma in children can stunt bone growth of the affected limb.
How is scleroderma diagnosed?
The diagnosis of the scleroderma syndrome is based on the finding of the clinical features of the illnesses. Nearly all patients with scleroderma have blood tests which suggest autoimmunity, antinuclear antibodies (ANAs). A particular antibody, the anticentromere antibody, is found almost exclusively in the limited, or CREST, form of scleroderma. Anti-Scl 70 antibody (antitopoisomerase I antibody) is most often seen in patients with the diffuse form of scleroderma.
Other tests are used to evaluate the presence or extent of any internal disease. These may include upper and lower gastrointestinal tests to evaluate the bowels, chest x-rays, and lung function tests to examine the lungs, EKG and echocardiograms to evaluate the heart and lung arteries.
How is scleroderma treated?
Treatment of scleroderma is directed toward the individual feature(s) that is most troubling.
Aggressive treatment of elevations in blood pressure have been extremely important in prevent kidney failure. Blood pressure medications, such as captopril , are frequently used.
Recent data indicate that colchicine can be helpful in decreasing the inflammation and tenderness that periodically accompanies the calcinosis nodules in the skin. Skin itching can be relieved with lotions (emollients), such as Eucerin and Lubriderm.
Mild Raynaud's phenomenon may require only hand warming and protection. Low dose aspirin is often added to prevent tiny blood clots in the fingers, especially in patients with a history of fingertip ulcerations. Moderate Raynaud's phenomenon can be helped by medications that open up the arteries, such as nifedipine (Procardia, Adalat) and nicardipine (Cardizem), or with topical nitroglycerin applied to the most affected digit. Gently applied finger splinting can protect tender tissues. A class of medications that is typically used for depression, called serotonin reuptake inhibitors, such as fluoxetine (Prozac), can sometimes improve the circulation of the affected digit. Severe Raynaud's phenomenon can require surgical procedures, such as those to interrupt the nerves of the finger that stimulate constriction of the blood vessels (digital sympathectomy). Ulcerations of the fingers can require topical or oral antibiotics.
Esophagus irritation and heartburn can be relieved with omeparazole (Prilosec), esomeprazole (Nexium), or lansoprazole (Prevacid). Antacids can also be helpful. Elevating the head of the bed can reduce backflow of acid into the esophagus that causes inflammation and heartburn. Avoiding caffeine and cigarette smoking also helps.
Constipation , cramping and diarrhea is sometimes caused by bacteria that can be treated with tetracycline or erythromycin . Recent studies have shown that erythromycin could also be used. Increased fluid intake and fiber intake are good general measures.
Irritated, itchy dry skin can be helped by emollients, such as Lubriderm, Eucerin, or Bagbalm.
Telangiectasias, such as those on the face, can be treated with local laser therapy.
Approximately 10 percent of patients with the CREST variant develop elevated pressures in the blood vessels to the lungs ( pulmonary hypertension ). Abnormally elevated blood pressure of the arteries supplying the lungs is often treated with calcium antagonist medications, such as nifedipine, and blood thinning drugs (anticoagulation). More severe pulmonary hypertension can be helped by continuous intravenous infusion of prostacyclin (Iloprost). A new drug taken by mouth, bosentan (Tracleer), is now available to treat severe pulmonary hypertension.
Additionally, medications are used to suppress the overly active immune system that seems to be spontaneously causing the disease in organs affected. Medications used for this purpose include penicillamine , azathioprine , and methotrexate . (Recent research has found that low dose penicillamine (Depen, Cuprimine) [125mg every other day] is as effective as previously used high doses of penicillamine, with less toxicity.) Serious inflammation of the lungs (alveolitis) can require immune suppression with cyclophosphamide (Cytoxan) along with prednisone .
No medication has been found to be universally effective for all patients with scleroderma. In an individual patient the illness may be mild, and not require treatments. In some, the disease is ravaging and relentless.
What is the outlook (prognosis) for patients with scleroderma?
A patient's prognosis is optimized with close monitoring of overall health status and treatment of complications, especially elevated blood pressure. Recent data indicates that the critical period of organ risk is generally within the first three years of skin involvement. This means that patients can be reassured that their risk of organ-threatening complications is significantly less after three years of having skin symptoms.
Much more research is needed in all areas of scleroderma disease, from cause to treatment. Today scleroderma continues to baffle medical scientists. Researchers are evaluating the effectiveness of thalidomide for the treatment of scleroderma. More sensitive tests to detect early lung disease of scleroderma are also being evaluated. Ultraviolet light therapy (PUVA) is being studied as a possible treatment for limited scleroderma.
Many researchers are investigating the roles of various cell messengers, called cytokines, in causing scleroderma. Researchers are also currently studying a hormone of pregnancy, called relaxin, for the treatment of scleroderma. Preliminary results suggest that it may improve scleroderma. Relaxin normally loosens the ligaments of the pelvis and ripens the womb for childbirth. How it might work in scleroderma is unclear. - Scleroderma is a skin disease that is associated with illness involving internal organs.
- Scleroderma is classified into diffuse and limited forms.
- CREST syndrome is a limited form of scleroderma.
- Patients with scleroderma can have antibodies in their blood which suggest autoimmunity.
- Treatment of scleroderma is directed toward the individual feature(s) that is(are) most troubling.
Medical Author: William C. Shiel Jr., MD, FACP, FACR
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