• Home

Home > Medical Reference > Patient Education

• Highlights
• Introduction
• Symptoms
• Causes
• Risk Factors
• Prognosis
• Diagnosis
• Treatment
• Medications
• Other Treatments
• Treatment for Raynaud's Phenomenon
• Treatment for Skin Thickening
• Treatment for Lung Complications
• Treatment for Gastrointestinal Problems
• Treatment for Other Complications
• Resources
• References

Scleroderma

Description

An in-depth report on the causes, diagnosis, treatment, and prevention of scleroderma.

Alternative Names

Systemic sclerosis

Diagnosis

There are no specific tests for scleroderma. The doctor may suspect scleroderma after taking a history of the symptoms and performing a physical examination. As part of this examination, the doctor does the following:

• Checks the skin for thickened and hardened areas. The major clinical clues to scleroderma are hardening and thickening of the skin in any areas on the fingers and toes.
• Presses affected tendons and joints to detect crackling or grating sensations, which can indicate sclerodermic changes beneath the skin.
• Examines the fingernails underneath a microscope. The doctor may find changes in capillaries that are characteristic of scleroderma and mixed connective tissue disease.

Scientists recently found that antibodies often present in patients with scleroderma and systemic lupus erythematosus (SLE) bind to different parts of a single protein. Scientists hope this finding will one day lead to a specific diagnostic test for scleroderma.

Tests for Antinuclear Antibodies

Tests may be conducted to detect immune factors called antinuclear antibodies (ANAs). Elevated levels of ANA are found in 95% of patients with scleroderma. Antinuclear antibodies, however, are also strongly present in patients with many other autoimmune diseases, including systemic lupus erythematosus. Many people can also have high levels and never develop any of these diseases.

Detecting ANA subtypes may provide some weight in diagnosing scleroderma. Such subtypes include the following:

• Anti-topoisomerase antibodies (TOPO)
• Anti-centromere antibodies. The centromere is an important factor in cell division, and 50 - 80% of people with CREST have antibodies to centromeres.

These antibodies are also found in other rheumatologic disorders, however, so detecting them does not necessarily prove scleroderma. At the same time, studies have found that specific antibodies are associated with specific aspects of the disease. Therefore, identifying their presence could help diagnose, treat, and monitor people with scleroderma. For example, the presence of anti-U1-RNP and anti U3-RNP is associated with muscle inflammation. Pulmonary hypertension and vascular disease is common with ACA. Pulmonary fibrosis is associated with TOPO. Severe interstitial fibrosis rarely occurs in the presence of RNA Polymerase III (Pol 3), although this autoantibody is strongly present in patients with renal crisis. Among patients who have diffuse scleroderma, those with Pol 3 have the best survival rate.

Ultrasound

High frequency ultrasound may be used to detect the effects of scleroderma in patients' hands.

Diagnosing Systemic Complications

Diagnosing Lung Complications. Changes in the lungs may occur early in scleroderma lung disease, and prompt treatment is very important to prevent complications. For this reason, once a diagnosis is made, the doctor will check for lung changes:

• Using a stethoscope, the doctor will first listen for specific lung sounds. Rales (a crackling sound) heard at the base of the lungs while breathing in is a sign of pulmonary fibrosis even if breath function is normal.
• Respiratory function tests determine lung capacity.
• A chest x-ray is usually done. X-rays, however, do not always find lung disease, especially in children.
• In another test, patients inhale nitric oxide to test the ability of blood vessels to open. (According to a small 2002 study, this test may cause complications in patients with CREST syndrome, who should be tested with caution.)
• More extensive tests, such as high resolution computed tomography (CT) scans and bronchoalveolar lavage, may be needed if severe lung scarring is suspected.

Diagnosing Heart Complications. Patients with suspected heart complications should have the following tests:

• Electrocardiography (ECG): A test of the heart's electrical activity
• Echocardiography: A look at the beating heart through the use of sound waves
• Radionucleotide ventriculography: An evaluation of the working heart using a radioactive dye

Advanced imaging techniques, which provide a more detailed picture of the heart, may also be useful to determine the extent of heart complications in scleroderma patients.

Diagnosing Pulmonary Hypertension. Echocardiography is a noninvasive imaging technique for detecting pulmonary hypertension, a common and life-threatening complication of scleroderma. (A non-invasive procedure is one where no materials or equipment are put into the body.) To confirm the diagnosis, doctors sometimes use an invasive procedure called right-heart catheterization. However, a newer, noninvasive technique called cardiac MRI is now becoming available at many centers. Studies have shown that cardiac MRI is more accurate than either echocardiography or right heart catheterization.

Diagnosing Gastrointestinal (Digestive) Complications. Gastrointestinal problems may be detected using endoscopy. Endoscopy is an invasive procedure in which a tube is inserted down the esophagus. The tube contains a small camera and other instruments. Another diagnostic test is manometry, a test that measures the pressure that the muscles in the esophagus apply. Electrogastrography (EGG) measures the electrical activity in muscles in the stomach, and may be an effective method for detecting stomach problems.

Diagnosing problems in growth of blood vessels. Capillaroscopy is the microscopic examination of blood vessels under the skin. It is now considered a useful tool for identifying problems with the growth of blood vessels. Such problems can show the severity and progression of scleroderma.

Ruling out Other Conditions

Other Autoimmune and Connective Tissue Disorders. Several other autoimmune conditions that affect connective tissue can strongly resemble, and even occur together, with scleroderma. They include the following:

• Rheumatoid arthritis
• Systemic lupus erythematosus
• Polymyositis

Symptoms of such diseases may also include fever, arthritis, muscle aches, rash, and lung and heart problems.

Eosinophil Fasciitis. Eosinophilic fasciitis is a muscle disorder that is known to occur after intense hard work. It can cause symptoms similar to scleroderma, including pain, swelling, and tenderness in the hands and feet, as well as skin thickening. The disorder can be ruled out if blood tests show elevated sedimentation rate and no antinuclear antibodies.

Although Raynaud's phenomenon occurs in most scleroderma patients, over 80% of the cases of Raynaud's phenomenon are harmless. In one study, only 12% of Raynaud's cases were associated with some other condition, and few of those were scleroderma. The following are other problems that might accompany or cause Raynaud's phenomenon:

• Other autoimmune connective tissue diseases
• Diabetes. Patients with diabetes may develop Raynaud's phenomenon and other scleroderma-like symptoms.
• Certain drugs including bleomycin, ergot derivatives (used for migraines), and methysergide
• Hereditary hemorrhagic telangiectasia is very similar to CREST syndrome and poses a diagnostic problem for the doctor, although it is very rare.
• Keloids are areas of scarring overgrowth on the skin that develop at the site of skin injuries. They are caused by genetic factors and are most likely to occur in African-Americans. Extensive keloids may be mistaken for scleroderma.

• Repetitive stress injuries (particularly from vibrating tools)
• Hypothyroidism

• Review Date: 12/14/2006
• Reviewed By: Harvey Simon, MD, Associate Professor of Medicine, Harvard Medical School; Physician, Massachusetts General Hospital

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial process . A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997-2007 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.