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What Is Scleroderma?

Posted on September 12, 2017
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Women are three to four times more likely than men to be afflicted with scleroderma, a chronic, autoimmune disease that most often strikes women during middle age. It can cause hardening and thickening of the skin and attack the heart, lungs, kidneys and gastrointestinal tract.

The disease is caused by inflammation of small veins and arteries leading to overproduction of collagen in your body’sconnective tissue. Collagen is normally responsible for keeping your skin and organs supple, but when it is overproduced, it makes tissue thick and immobile.

Scleroderma, or systemic sclerosis, is a chronic connective tissue disease generally classified as one of the autoimmune rheumatic diseases. The word “scleroderma” comes from two Greek words: “sclero” meaning hard, and “derma” meaning skin. Hardening of the skin is one of the most visible manifestations of the disease. The disease has been called “progressive systemic sclerosis,” but the use of that term has been discouraged since it has been found that scleroderma is not necessarily progressive. The disease varies from patient-to-patient.

Scleroderma literally means “hard skin,” but the disease is most serious when it affects internal organs, hardening the tissues of the lungs, heart, kidneys, intestinal tract, muscles and joints. This stiffening can seriously harm the circulatory, digestive and respiratory systems. In some organs, the inflammation of blood vessels causes blockage of blood to the areas.

According to the Scleroderma Foundation, an estimated 300,000 people in the United States have the disease in one of its forms.

What causes scleroderma is unknown, but some early stage research suggests the involvement of both environmental and genetic factors. It appears likely that some people are genetically predisposed to scleroderma. And some research shows that certain environmental factors or combinations of factors—exposure to certain chemicals, for example—may play a role in triggering the disease.

Though scleroderma affects members of all ethnic groups, researchers have found a high prevalence of the disease in Oklahoma Choctaw Native Americans. Additionally, African-American women seem to be more seriously affected when they get the disease. These facts reinforce the notion that there are chromosomal factors at work.

Researchers have discovered autoantibodies in scleroderma patients that are not seen in other autoimmune diseases. Learning how and why these antibodies form will lead to better understanding of the mechanisms that underlie this disorder.

Although scleroderma can run in families, in most cases it occurs in people who do not have a close relative with the disease. And scleroderma is not contagious. Occupational exposure to silica dust (not silicone) has been linked to a scleroderma-like disease, particularly in men. Other substances linked to the development of scleroderma include paint thinners and certain chemotherapy drugs.

Scleroderma, like other autoimmune diseases, develops when the immune systemturns its infection-fighting weapons including antibodies against the body’s own healthy tissues. In scleroderma, the body produces specific autoantibodies. Blood tests for these antibodies are useful in defining the seriousness of the disease, although they are not present in all patients.

The disorder seems to be resistant to some drugs designed to suppress the immune system. However, new agents directed at newly recognized parts of the immune system are being tested. The disease is extremely complex and highly individualized. If you suspect you have scleroderma, you should seek a physician with experience diagnosing and treating the disease, since many physicians are not well versed in its intricacies.

How serious is scleroderma?

Any chronic disease can be serious. The symptoms of scleroderma vary greatly for each person, and the effects of scleroderma can range from very mild to life threatening. The seriousness will depend on the parts of the body, which are affected, and the extent to which they are affected. A mild case can become more serious if not properly treated. Prompt and proper diagnosis and treatment by qualified physicians may minimize the symptoms of scleroderma and lessen the chance for irreversible damage.

Diagnosing scleroderma in its mildest forms can challenge even the most experienced physician, whereas the diagnosis is more straightforward if there is extensive skin thickening. Sometimes, the disease manifests itself in mild symptoms, but can also be life threatening.

Types of Scleroderma 

Localized Scleroderma

Localized Scleroderma The changes, which occur in localized scleroderma, are usually found in only a few places on the skin or muscles, and rarely spread elsewhere. Generally, localized scleroderma is relatively mild. The internal organs are usually not affected, and persons with localized scleroderma rarely develop systemic scleroderma. Some laboratory abnormalities commonly seen in systemic scleroderma are frequently absent in the localized form.

Morphea

Morphea is a form of localized scleroderma characterized by waxy patches on the skin of varying sizes, shapes and color. The skin under the patches may thicken. The patches may enlarge or shrink, and often may disappear spontaneously. Morphea usually appears between the ages of 20 and 50, but is often seen in young children.

Linear scleroderma

Linear scleroderma is a form of localized scleroderma which frequently starts as a streak or line of hardened, waxy skin on an arm or leg or on the forehead. Sometimes it forms a long crease on the head or neck, referred to as en coup de sabre because it resembles a saber or sword wound. Linear scleroderma tends to involve deeper layers of the skin as well as the surface layers, and sometimes affects the motion of the joints, which lie underneath. Linear scleroderma usually develops in childhood. In children, the growth of involved limbs may be affected.

Systemic scleroderma (systemic sclerosis)

Systemic scleroderma (systemic sclerosis) The changes occurring in systemic scleroderma may affect the connective tissue in many parts of the body. Systemic scleroderma can involve the skin, esophagus, gastrointestinal tract (stomach and bowels), lungs, kidneys, heart and other internal organs. It can also affect blood vessels, muscles and joints. The tissues of involved organs become hard and fibrous, causing them to function less efficiently. The term systemic sclerosis indicates that “sclerosis” (hardening) may occur in the internal systems of the body.

There are two major recognized patterns that the illness can take – diffuse or limited disease.

In diffuse scleroderma, skin thickening occurs more rapidly and involves more skin areas than in limited disease. In addition, people with diffuse scleroderma have a higher risk of developing “sclerosis” or fibrous hardening of the internal organs.

About 50 percent of patients have a slower and more benign illness called limited scleroderma. In limited scleroderma, skin thickening is less widespread, typically confined to the fingers, hands and face, and develops slowly over years. Although internal problems occur, they are less frequent and tend to be less severe than in diffuse scleroderma, and are usually delayed in onset for several years. However, persons with limited scleroderma, and occasionally those with diffuse scleroderma, can develop pulmonary hypertension, a condition in which the lung’s blood vessels become narrow, leading to impaired blood flow through the lungs resulting in shortness of breath.

Limited scleroderma is sometimes called CREST syndrome. CREST stands for the initial letters of five common features:

  • Calcinosis
  • Raynaud Phenomenon
  • Esophageal dysfunction
  • Sclerodactyly
  • Telangiectasia

To further complicate the terminology, some people with diffuse disease will go on to develop calcinosis and telangiectasias so that they also have the features of CREST.

How is scleroderma diagnosed?

The diagnostic process may require consultation with rheumatologists (arthritis specialists), and/or dermatologists (skin specialists) and require blood studies and numerous other specialized tests depending upon which organs are affected.

Because scleroderma’s symptoms vary in severity and type, it may be hard to get a definitive, positive diagnosis in the early stages of the disease. Consult a physician if you have any of the symptoms listed below, but remember that none of these necessarily mean you have scleroderma:

  • pitted scars on the fingertips
  • thickening or hardening of the skin (either in small patches or over larger portions of the face, hands and feet)
  • finger ulcerations (sores)
  • Raynaud’s phenomenon; almost every scleroderma patients has this condition. Raynaud’s can involve an abnormal sensitivity to cold in the extremities; a temporary change in hand and foot color to bluish or white or a change in sensation in the fingers and toes; pain; and occasionally ulcers of the fingertips or toes. Remember, however, that most patients with Raynaud’s never progress to other symptoms of scleroderma.
  • swelling and thickening of the skin on the hands and feet
  • pain and stiffness of the joints
  • joint contractures
  • digestive system and gastrointestinal tract problems, especially heartburn, and problems with food getting stuck in the esophagus on the way to the stomach.
  • dry mucus membranes
  • kidney, heart and lung problems
  • nonspecific symptoms such as extreme fatigue, generalized weakness, weight loss and vague aching of muscles, joints and bones
  • shortness of breath with lung x-rays showing fibrosis

Another factor making diagnosis difficult is that many of these symptoms are common to other diseases, especially other connective-tissue diseases such as rheumatoid arthritis, lupus and polymyositis (muscle inflammation).

In addition to the symptoms and physical changes apparent on examination, your physician may look at blood tests measuring autoantibodies (such as the antinuclear antibody test), along with the nailfold capillary test. Based on the observation that small capillaries in the hands may be dilated or disappear early on in scleroderma patients, the test involves taking a microscopic look at skin under the fingernail, to see if capillaries look normal.

You may need to consult a number of physicians before receiving an accurate diagnosis. Remember that the results from one test alone cannot conclusively determine whether you have scleroderma. It may take a team of health care professionals to analyze various test results. They will probably also need to look at your complete medical history before making a definitive diagnosis.

Treatment

As with many chronic illnesses such as high blood pressure, diabetes or asthma, there is no cure for scleroderma. However, there are effective treatments for many of the symptoms. Treatment will be determined by the type and severity of your particular symptoms. If you have been diagnosed with scleroderma, you may need to consult a team of health care professionals, including a rheumatologist and a dermatologist.

Some treatments may work on one patient and not another, and some may lose their effectiveness over time. What makes identifying successful treatments particularly difficult is that, in some patients, scleroderma can go into unexplained remission, which may give the impression that a particular course of treatment was effective even if it wasn’t.

Your physician may refer you to a physical therapist, who can help you learn techniques to protect swollen and painful joints. This can involve learning different ways to perform such daily tasks as dressing, brushing your teeth and driving.

You and your physician need to be alert for any changes in your health; it’s particularly essential to regularly monitor blood pressure, blood counts, urinalysis and kidney and lung function.

Various medications can be prescribed to reduce skin thickening and delay internal-organ involvement. Results are mixed. Be sure to discuss possible side effects with your physician. If you decide to start taking medications, you and your physician should monitor the effects carefully; some of these drugs can be toxic.

  • Calcium channel blockers. These drugs increase blood flow by interrupting the normal flow of calcium into and out of the cells that make up the blood vessels and narrow arteries. They are prescribed to people with Raynaud’s phenomenon to keep arteries from closing. Common side effects include low blood pressure, dizziness or lightheadedness, headache, nausea, leg swelling and irregular heartbeats.
  • Angiotensin-converting enzyme (ACE) inhibitors. These drugs interfere with the body’s chemical processes that constrict blood vessels, and they help alleviate the high blood pressure sometimes associated with scleroderma. Common side effects include dry persistent cough, rash and dizziness.
  • Antiplatelet drugs. Antiplatelet therapy in the form of low-dose aspirin inhibits blood clotting.
  • Glucocorticoids. These drugs may be used in low doses to relieve scleroderma-related pericarditis (inflammation of the membrane surrounding the heart) and myositis (inflammation of the muscles). The topical form may also be used on lesions of localized scleroderma.
  • Immunosuppressants. A few immunosuppressant drugs, including the cancer drugs cyclophosphamide (Cytoxan) and methotrexate (Rheumatrex and Trexall), have been shown to be effective in treating the inflammatory stage of scleroderma in some people.

Nonsteroidal anti-inflammatory drugs (NSAIDs)—such as aspirin, ibuprofen and naproxen—may relieve some of your joint and tendon pain and swelling, as well as the chest pain that sometimes accompanies scleroderma. But NSAIDs can upset your stomach and aggravate the gastrointestinal (GI) symptoms of scleroderma. Plus, there is the potential for cardiovascular events and GI bleeding associated with the use of NSAIDS. It is important to ask your physician for safety information associated with pain relievers.

Lung fibrosis leading to pulmonary hypertension is one of the major complications of patients with scleroderma. For treatment of lung fibrosis, some success has been reported with the use of an immunosuppressive drug such as cyclophosphamide (Cytoxan), azathioprine (Azasan) or mycophenolate mofetil (CellCept).

Treatment options for pulmonary hypertension associated with scleroderma include the endothelin receptor antagonist bosentan (Tracleer); the phosphodiesterase inhibitors sildenafil (Revatio), vardenafil (Levitra) or tadalafil (Adcicra); and various prostacyclin analogs, such as epoprostenol (Flolan), treprostinil (Remodulin) and iloprost (Ventavis). The medical community has concluded that corticosteroids should be used cautiously and only for people who have been carefully screened. For example, they may be used to manage people who also have muscle inflammation. If you are taking corticosteroids, you should monitor your blood pressure frequently and report any changes to your physician immediately.

With advanced lung fibrosis or pulmonary hypertension, the only options may be a single or double lung transplant, sometimes including a heart transplant if heart problems are severe or stem cell transplantation. Of course, pulmonary infections often require antibiotics.

If lifestyle and dietary changes aren’t enough to avoid severe gastrointestinal symptoms and over-the-counter antacids don’t work, you and your physician may want to consider H2 blockers such as ranitidine (Zantac), cimetidine (Tagamet) or famotidine (Pepcid AC), which reduce the amount of acid produced by the stomach. Proton pump inhibitors such as lansoprazole (Prevacid), omeprazole (Prilosec) and similar drugs are more powerful acid reducers and may be necessary.

Lifestyle changes can help mitigate the chronic heartburn (reflux) often associated with scleroderma. Preventive measures such as elevation of the head of the bed and frequent small meals can help. You should try to avoid eating late at night, and you may need to give up alcohol, coffee and tea, since they can increase heartburn.

If you have systemic sclerosis and develop heart and kidney complications, you may be treated much the same as any cardiac or renal patients. ACE (angiotensin-converting enzyme) inhibitors are used to treat kidney disease associated with scleroderma. ACE inhibitors are often used to treat high blood pressure, which occurs in scleroderma renal crises.

For skin thickening, treatments may include nitroglycerin ointment, phototherapy (light therapy), a form of vitamin D3 called calcipotriene (Dovonex), immunosuppressive drugs such as D-penicillamine and methotrexate (Rheumatrex, Trexall) or corticosteroids.

A scleroderma treatment plan almost always incorporates therapy for Raynaud’s phenomenon, which afflicts about 90 percent of those with scleroderma. There are some basic lifestyle changes you can make to prevent or decrease the severity of the symptoms: You should dress warmly and limit outdoor activities in cold weather. If you live in the North, you may want to consider moving to a warmer climate. But remember, air conditioning can trigger attacks, so you may want to turn it off or wear a sweater when it’s running. You may find that using insulated drinking glasses and wearing gloves to handle frozen or refrigerated food items will help.

This disorder is characterized by episodic attacks, called vasospastic attacks, that cause the blood vessels in the fingers and toes to constrict. During an attack, some of the same guidelines apply. The most important thing is to warm your hands and feet. In cold weather, go inside immediately. You may want to run warm water over your fingers and/or toes or soak them in warm water.

Since stress and emotional upset can trigger an attack, you may want to try to relax. If you are in a stressful situation, get out. In fact, you should learn to identify and avoid stressful situations. Many people with Raynaud’s find that exercise helps reduce stress, but check with your physician before starting an exercise program.

In addition, if you smoke, stop. Not only is it bad for your overall health, the nicotine in cigarettes causes the skin temperature to drop, which may lead to an attack.

Several medications can relieve Raynaud’s symptoms. Calcium channel blockers such as nifedipine (Procardia) and diltiazem (Cardizem), which relax blood vessels, may help. These drugs also can help heal skin ulcers on the fingertips or toes. As with any medication, there are some side effects, so discuss the benefits and potential dangers of any drug therapy with your physician.

You may consider using a nonspecific vasodilator (drug that relaxes blood vessels), such as nitroglycerin ointment. You would apply this directly to your fingers to help increase circulation. Other drugs used to treat Raynaud’s include losartan potassium (Cozaar), doxazosin (Cardura), prazosin (Minipress) and pentoxifylline (Trental), a blood thinner.

A word of warning: these medications often have side effects that limit long-term use. Drugs used to treat Raynaud’s phenomenon may affect a growing fetus. If you are pregnant or are trying to become pregnant, discuss your treatment options with your physician.

If you have been diagnosed with scleroderma, consult your physician before planning to have a baby. If you plan to become pregnant, you may need to adjust your medications and address specific risks with your doctor beforehand. Pregnancy in women with scleroderma is always considered high risk, and extra monitoring and precautions are necessary, both before and during the pregnancy.

People with rapid onset or severe internal organ involvement may need to postpone pregnancy until the symptoms subside or until toxic treatments are finished. Some women with severe scleroderma may be advised to forego pregnancy or consider adoption or surrogate parenthood. Discuss your decision with your physician.

Prevention

No one really knows enough about scleroderma to know whether there is a way to prevent the disease or delay its onset. Occupational exposures to the silica dust (not silicone) found in mines and stonework settings have been linked to scleroderma. Solvents used in paint thinners and removers and certain chemotherapy drugs have also been implicated.

Although clear-cut guidance on prevention is lacking, there are measures you can take to prevent or lessen the symptoms if you have been diagnosed with scleroderma.

Dental care is essential. Some people with scleroderma develop excessive dryness of the mouth, which can lead to tooth decay. But oral hygiene may become difficult if your facial skin becomes tight. Visit your dentist often, and make sure he or she is aware of your condition. To combat dryness, try artificial saliva products. Excessively dry eyes also may cause discomfort. You can sometimes relieve dryness with lubricating drops and ointments.

Regular exercise or stretching can maintain joint flexibility and help keep your skin pliable. Other strategies include frequent massage of the skin and avoidance of detergent soaps, which dry the skin. Frequent use of bath oils and moisturizing lotions or ointments can help soften the skin, and a cold-water room humidifier can keep your skin moist.

Reducing stress is critical, and some experts suggest biofeedback training. It could help reduce pain and promote relaxation. You and your physician can decide whether this approach will work for you. Joining a scleroderma support group can also help with the emotional aspects of the disease, and you will be able to exchange information with others who have the same problems.

Facts to Know

  1. Women are three to four times more likely than men to be afflicted with scleroderma. According to the Scleroderma Foundation, an estimated 300,000 people in the United States have the disease in one of its forms.
  2. Scleroderma, which literally means “hard skin,” is caused by an overproduction of collagen in your body’s connective tissue. Collagen is normally responsible for keeping your skin and organs supple, but when it is overproduced, it makes tissue thick and immobile.
  3. Occupational exposure to silica dust (not silicone), solvents used in paint thinners and removers and certain chemotherapy drugs have been linked to the disease.
  4. Scleroderma is considered an autoimmune disease. Such diseases develop when the immune system turns its infection-fighting weapons—antibodies—against the body’s own healthy tissues. In scleroderma, the body produces autoantibodies.
  5. Localized scleroderma is one of the two major types of scleroderma. It is the milder version, in which the skin is generally the only organ affected. In one manifestation, called morphea, oval patches of inflamed and discolored skin may appear on the body. Many people with morphea will improve spontaneously over time.
  6. Systemic sclerosis is the other major type of scleroderma. It is the more severe form. It can affect connective tissue in various parts of your body, such as skin, the esophagus, gastrointestinal tract, lungs, kidneys, heart and other internal organs. Systemic sclerosis can also affect blood vessels, muscles and joints.
  7. Almost every scleroderma patients has Raynaud’s phenomenon, which can involve an abnormal sensitivity to cold in the extremities, a temporary change in color and sensation in the fingers and toes, changes in skin color, pain and occasionally ulcers of the fingertips or toes.
  8. Although scleroderma can run in families, in most cases, it occurs in people who do not have a relative with the disease. Scleroderma is also definitely not contagious.
  9. Some of the major symptoms of scleroderma include thickening or hardening of the skin; finger sores; Raynaud’s phenomenon; swelling of the hands and feet; joint pain and stiffness; joint contractures; digestive system and gastrointestinal tract problems; shortness of breath; and dryness of the skin and mucous membranes. Diagnosis involves determining which symptoms you have and may include blood tests for autoantibodies and the nailfold capillary test.
  10. There is no cure for scleroderma, although research continues. If you have the disease, physicians can treat your symptoms and try to treat the underlying disease, using both medications and lifestyle changes.

Key Q&A

  1. What is scleroderma?Scleroderma, which literally means “hard skin,” is caused by an overproduction of collagen in your body’s connective tissue. Collagen is normally responsible for keeping your skin and organs supple, but when it is overproduced, it makes tissue thick and immobile.
  2. What’s the difference between localized scleroderma and systemic sclerosis?Localized scleroderma is the milder version, and the skin is generally the only organ affected. In one manifestation, called morphea, oval patches of inflamed and discolored skin may appear on the body. Systemic sclerosis may affect connective tissue in various parts of your body, such as skin, the esophagus, gastrointestinal tract, lungs, kidneys, heart and other internal organs. It can also affect blood vessels, muscles and joints. This form of scleroderma can lead to disfigurement, serious disability, organ failure and early death.
  3. Do breast implants cause scleroderma?There is no evidence that breast implants cause scleroderma.
  4. What causes scleroderma?Some people are born with a heightened genetic susceptibility, but other factors, including environmental ones, appear to play a part in development of the disease. Since women are three to four times more likely to contract scleroderma, gender obviously has a role. Scleroderma in men sometimes can be traced to particular environmental triggers: for example, exposure to silica dust and solvent mixtures.
  5. Is there a proven cure for scleroderma?No, although the disease may spontaneously improve as various treatments are being used. Symptoms often can be managed through lifestyle modifications and medications. Symptoms vary so widely from one individual to another, however, that treatment guidelines cannot be standardized. If you have scleroderma, talk to your physician about the best ways to treat your symptoms.
  6. How can I tell if I have scleroderma?Diagnosis is complicated, and you may need to consult more than one health care professional, for example a rheumatologist and dermatologist. Symptoms may include such nonspecific manifestations as extreme fatigue and pain in the joints, bones and muscles. Some of the more particular hallmarks of scleroderma include thickening or hardening of the skin; finger ulcerations (sores); Raynaud’s phenomenon (abnormal sensitivity to cold and change in color in the extremities); digestive symptoms and gastrointestinal tract problems; shortness of breath; palpitations; and dry mucus membranes. A diagnosis will take into account presence of one or more of these symptoms, as well as blood tests for autoantibodies and perhaps a nailfold capillary test.
  7. How can I prevent scleroderma?There is no known way to prevent scleroderma.
  8. Can I have a baby if I have scleroderma?If you have been diagnosed with scleroderma, consult your physician before planning to have a baby. You may need to adjust your medications and address specific risks with your doctor beforehand. Many women with scleroderma have successfully had children, but it is always considered high risk and extra monitoring and precautions are necessary, both before and during the pregnancy. And women with rapid onset or severe internal organ involvement may need to postpone pregnancy until the symptoms subside or until toxic treatments are finished. Some women with severe scleroderma may be advised to forego pregnancy or consider adoption or surrogate parenthood. Discuss your decision with your physician.
  9. Are medications available to treat scleroderma?Drugs that tamp down the immune system may be prescribed, as well as low-dose aspirin, glucocorticoids, diuretics, nonsteroidal anti-inflammatory drugs for pain, topical antibiotics for finger sores, ACE inhibitors and calcium channel blockers to keep arteries clear and vasodilators for Raynaud’s phenomenon. Be sure to ask your physician about side effects.
  10. What is Raynaud’s phenomenon?Almost every scleroderma patient has this condition. Raynaud’s can involve an abnormal sensitivity to cold in the extremities, a temporary change in color and sensation in the fingers and toes, changes in skin color, pain and occasionally ulcers of the fingertips or toes. If you have Raynaud’s, there are some basic lifestyle changes you can make to prevent or decrease the severity of the symptoms, such as dressing warmly and limiting outdoor activities in cold weather.

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