Scleroderma

Overview

Scleroderma (sklair-oh-DUR-muh), also known as systemic sclerosis, is a group of rare diseases that involve the hardening and tightening of the skin. It may also cause problems in the blood vessels, internal organs and digestive tract.

Scleroderma is often categorized as "limited" or "diffuse," which refers only to the degree of skin involvement. Both types can involve any of the other vascular or organ problems. Localized scleroderma, also known as morphea, affects only the skin.

While there is no cure for scleroderma, treatments can ease symptoms, slow progression and improve quality of life.

Symptoms

Scleroderma's signs and symptoms vary from person to person, depending on which parts of the body are affected.

Skin-related signs and symptoms

Nearly everyone who has scleroderma experiences a hardening and tightening of the skin.

The first parts of the body to be affected are usually the fingers, hands, feet and face. In some people, the skin thickening can also involve the forearms, upper arms, chest, abdomen, lower legs and thighs. Early symptoms may include swelling and itchiness. Affected skin can become lighter or darker in color and may look shiny because of the tightness.

Some people also experience small red spots, called telangiectasia, on their hands and face. Calcium deposits can form under the skin, particularly at the fingertips, causing bumps that can be seen on X-rays.

Raynaud's phenomenon

Raynaud's phenomenon is common in scleroderma and occurs because of an inappropriate and exaggerated contraction of the small blood vessels in the fingers and toes in response to the cold or emotional distress. When this happens, the digits may turn white, blue or red, and feel painful or numb. Raynaud's phenomenon also can occur in people who don't have scleroderma.

Digestive problems

Scleroderma can affect any part of the digestive system, from the esophagus to the rectum. Depending on which parts of the digestive system are affected, signs and symptoms may include:

• Heartburn
• Difficulty swallowing
• Bloating
• Diarrhea
• Constipation
• Fecal incontinence

Heart and lung problems

When scleroderma affects the heart or lungs, it can cause shortness of breath, decreased exercise tolerance and dizziness. Scleroderma can cause scarring in the lung tissues that may result in increasing shortness of breath over time. There are medications that may help slow the progression of this lung damage.

Scleroderma can also cause the blood pressure to increase in the circulation that goes between the heart and the lungs. This is called pulmonary hypertension. In addition to shortness of breath, pulmonary hypertension can also cause excess fluid in the legs, feet and sometimes around the heart.

When scleroderma affects the heart, heartbeats can become irregular. Heart failure may also occur in some people.

Causes

Scleroderma results from an overproduction and accumulation of collagen in body tissues. Collagen is a fibrous type of protein that makes up your body's connective tissues, including your skin.

Doctors don't know exactly what causes this process to begin, but the body's immune system appears to play a role. Most likely, scleroderma is caused by a combination of factors, including immune system problems, genetics and environmental triggers.

Risk factors

Anyone can get scleroderma, but it does occur much more often in women than in men. Several combined factors appear to influence the risk of developing scleroderma:

• Genetics. People who have certain gene variations appear to be more likely to develop scleroderma. This may explain why a small number of scleroderma cases appear to run in families and why some types of scleroderma are more common for certain ethnic groups.
• Environmental triggers. Research suggests that, in some people, scleroderma symptoms may be triggered by exposure to certain viruses, medications or drugs. Repeated exposure, such as at work, to certain harmful substances or chemicals also may increase the risk of scleroderma. An environmental trigger is not identified for most people.
• Immune system problems. Scleroderma is believed to be an autoimmune disease. This means that it occurs in part because the body's immune system begins to attack the connective tissues. People who have scleroderma may also have symptoms of another autoimmune disease — such as rheumatoid arthritis, lupus or Sjogren's syndrome.

Complications

Scleroderma complications range from mild to severe and can affect the:

• Fingertips. In systemic sclerosis, Raynaud's phenomenon can become so severe that the restricted blood flow permanently damages the tissue at the fingertips, causing pits or skin sores. In some cases, the tissue on the fingertips may die.
• Lungs. Scarring of lung tissue can impact your ability to breathe and tolerance for exercise. You may also develop high blood pressure in the arteries to your lungs.
• Kidneys. A serious kidney complication (scleroderma renal crisis) involves a sudden increase in blood pressure and rapid kidney failure. Prompt treatment of this condition is important to preserve kidney function.
• Heart. Scarring of heart tissue increases your risk of abnormal heartbeats and congestive heart failure. Scleroderma can also cause inflammation of the membranous sac surrounding your heart.
• Teeth. Severe tightening of facial skin can cause your mouth to become smaller and narrower, which may make it hard to brush your teeth or to even have them professionally cleaned. People who have scleroderma often don't produce normal amounts of saliva, so the risk of dental decay increases even more.
• Digestive system. Digestive problems associated with scleroderma can lead to heartburn and difficulty swallowing. It can also cause bouts of cramps, bloating, constipation or diarrhea. Some people who have scleroderma may also have problems absorbing nutrients due to overgrowth of bacteria in the intestine.
• Joints. The skin over joints can become so tight that it restricts joint flexibility and movement, particularly in the hands.

Diagnosis

Because scleroderma can take so many forms and affect so many different areas of the body, it can be difficult to diagnose.

After a thorough physical exam, your doctor may suggest blood tests to check for elevated levels of certain antibodies produced by the immune system.

Your doctor may also suggest other blood tests, imaging or organ-function tests to help determine whether your digestive system, heart, lungs or kidneys are affected.

Treatment

There is no treatment that can cure or stop the overproduction of collagen that is characteristic of scleroderma. But a variety of treatments can help control symptoms and prevent complications.

Medications

Because scleroderma can affect so many different parts of the body, the choice of medication will vary, depending on the symptoms. Examples include drugs that:

• Dilate blood vessels. Blood pressure medications that dilate blood vessels may help treat Raynaud's phenomenon.
• Suppress the immune system. Drugs that suppress the immune system, such as those taken after organ transplants, may help reduce progression of some scleroderma symptoms, such as the thickening of the skin or worsening of lung damage.
• Reduce digestive symptoms. Pills to reduce stomach acid can help relieve heartburn. Antibiotics and medications that help move food through the intestines may help reduce bloating, diarrhea and constipation.
• Prevent infections. Cleaning and protection from the cold may help prevent infection of fingertip ulcers caused by Raynaud's disease. Regular influenza and pneumonia vaccinations can help protect lungs that have been damaged by scleroderma.
• Relieve pain. If over-the-counter pain relievers don't help enough, your doctor might suggest prescription medications to control pain.

Therapies

Physical or occupational therapists can help you improve your strength and mobility and maintain independence with daily tasks. Hand therapy may help prevent hand contractures.

Surgical and other procedures

Stem cell transplants might be an option for people who have severe symptoms that haven't responded to more-common treatments. If the lungs or kidneys have been severely damaged, organ transplants might be considered.

Lifestyle and home remedies

You can take a number of steps to help manage your symptoms of scleroderma:

• Stay active. Exercise keeps your body flexible, improves circulation and relieves stiffness. Range-of-motion exercises can help keep your skin and joints flexible. This is always very important, but especially early in the disease course.
• Protect your skin. Take good care of dry or stiff skin by using lotion and sunscreen regularly. Avoid hot baths and showers and exposure to strong soaps and household chemicals, which can irritate and further dry out your skin.
• Don't smoke. Nicotine causes blood vessels to contract, making Raynaud's disease worse. Smoking can also cause permanent narrowing of the blood vessels, and cause or exacerbate lung problems. Quitting smoking is difficult — ask your doctor for help.
• Manage heartburn. Avoid foods that give you heartburn or gas. Also avoid late-night meals. Elevate the head of your bed to keep stomach acid from backing up into your esophagus as you sleep. Antacids may help relieve symptoms.
• Protect yourself from the cold. Wear warm mittens for protection anytime your hands are exposed to cold — even when you reach into a freezer. It is also important to keep your core body temperature warm to help prevent Raynaud's symptoms. When you're outside in the cold, wear warm boots, cover your face and head, and wear layers of warm clothing.

Coping and support

As is true with other chronic diseases, living with scleroderma can place you on a roller coaster of emotions. Here are some suggestions to help you even out the ups and downs:

• Maintain normal daily activities as best you can.
• Pace yourself and be sure to get the rest that you need.
• Stay connected with friends and family.
• Continue to pursue hobbies that you enjoy and are able to do.

Keep in mind that your physical health can have a direct impact on your mental health. Denial, anger and frustration are common with chronic illnesses.

At times, you may need additional tools to deal with your emotions. Professionals, such as therapists or behavior psychologists, may be able to help you put things in perspective. They can also help you develop coping skills, including relaxation techniques.

Joining a support group, where you can share experiences and feelings with other people, is often a good approach. Ask your doctor what support groups are available in your community.

Preparing for an appointment

You'll probably first bring your symptoms to the attention of your family doctor, who may refer you to a doctor who specializes in the treatment of arthritis and other diseases of the joints, muscles and bone (rheumatologist). Because scleroderma can affect many organ systems, you may need to see a variety of medical specialists.

What you can do

Time with your doctors may be brief. To make the best use of the limited time, plan ahead and write lists of important information, including:

• Detailed descriptions of all your symptoms
• A list of all your medications and dosages, including nonprescription drugs and supplements
• Questions for the doctor, such as what tests or treatments he or she may recommend

What to expect from your doctor

Your doctor may ask some of the following questions:

• Do your fingers change colors when you get cold?
• Do you regularly experience heartburn or swallowing problems?
• Have you noticed any skin tightening or skin thickening?