Systemic Sclerosis

The usual initial symptom of systemic sclerosis is swelling then thickening and tightening of the skin at the ends of the fingers. Raynaud syndrome Raynaud Syndrome Raynaud syndrome, a functional peripheral arterial disease, is a condition in which small arteries (arterioles), usually in the fingers or toes, narrow (constrict) more tightly than normal in... read more , in which the fingers suddenly and temporarily become very pale and tingle or become numb, painful, or both in response to cold or emotional upset, is also common. Fingers may become bluish or white. Heartburn, difficulty in swallowing Difficulty Swallowing Some people have difficulty swallowing (dysphagia). In dysphagia, foods and/or liquids do not move normally from the throat (pharynx) to the stomach. People feel as though food or liquids become... read more , and shortness of breath are occasionally the first symptoms of systemic sclerosis. Aches and pains in several joints often accompany early symptoms. Sometimes inflammation of the muscles (myositis Autoimmune Myositis Autoimmune myositis causes inflammation and weakness in the muscles (polymyositis) or in the skin and muscles (dermatomyositis). Muscle damage may cause muscle pain and muscle weakness may cause... read more ), with its accompanying muscle pain and weakness, develops.

A doctor suspects systemic sclerosis in people who have Raynaud syndrome, typical joint and skin changes, or gastrointestinal, lung, and heart problems that cannot be otherwise explained. A doctor diagnoses systemic sclerosis by the characteristic changes in the skin, the results of blood tests, and presence of damage to internal organs. The symptoms may overlap with those of several other disorders, but the whole pattern is usually distinctive.

Laboratory tests alone cannot identify systemic sclerosis because test results, like the symptoms, vary greatly. However, antinuclear antibodies (ANA) are present in the blood of more than 90% of people with systemic sclerosis. An antibody to centromeres (part of a chromosome) is often present in people who have limited systemic sclerosis. Different antibodies, called anti-topoisomerase and RNA polymerase III, are often present in people who have diffuse systemic sclerosis. Thus, the diagnosis of systemic sclerosis is based on all of the information doctors gather, including symptoms, physical examination results, and all test results.

To help make the diagnosis, doctors may also consult a set of established criteria:

Doctors may do pulmonary function testing Pulmonary Function Testing (PFT) Pulmonary function tests measure the lungs' capacity to hold air, to move air in and out, and to absorb oxygen. Pulmonary function tests are better at detecting the general type and severity... read more , computed tomography (CT) of the chest Chest Imaging Chest imaging studies include X-rays Computed tomography (CT) CT angiography Magnetic resonance imaging (MRI) read more , and echocardiography Echocardiography and Other Ultrasound Procedures Ultrasonography uses high-frequency (ultrasound) waves bounced off internal structures to produce a moving image. It uses no x-rays. Ultrasonography of the heart (echocardiography) is one of... read more , sometimes periodically, to detect heart and lung problems.

Sometimes systemic sclerosis worsens rapidly and becomes fatal (mainly with diffuse systemic sclerosis). At other times, it affects only the skin for decades before affecting internal organs, although some damage to internal organs (such as the esophagus) is almost inevitable. The course is unpredictable.

Overall, 92% of people who have limited systemic sclerosis and 65% of people who have diffuse systemic sclerosis live for at least 10 years after the diagnosis is made. The prognosis is worst for those who are male, develop the disease later in life, have diffuse systemic sclerosis, or have heart, lung, or, particularly, kidney damage. The prognosis for people who have limited systemic sclerosis (CREST syndrome) tends to be more favorable.

There is no cure for systemic sclerosis.

No drug can stop the progression of systemic sclerosis. However, drugs can relieve some symptoms and reduce organ damage.

Nonsteroidal anti-inflammatory drugs Nonsteroidal Anti-Inflammatory Drugs Pain relievers (analgesics) are the main drugs used to treat pain. Doctors choose a pain reliever based on the type and duration of pain and on the drug's likely benefits and risks. Most pain... read more (NSAIDs) help relieve joint pain but may cause gastrointestinal problems. However, NSAIDs are not given to people who have systemic sclerosis and who have a history of stomach bleeding or ulcers, or who have chronic kidney disease.

If the person has weakness because of myositis Autoimmune Myositis Autoimmune myositis causes inflammation and weakness in the muscles (polymyositis) or in the skin and muscles (dermatomyositis). Muscle damage may cause muscle pain and muscle weakness may cause... read more , corticosteroids are given, usually with another drug such as azathioprine or other drugs that suppress the immune system (immunosuppressive drugs).

Immunosuppressive drugs, such as mycophenolate mofetil and, in severe cases, cyclophosphamide, are also used to treat lung inflammation. Alternatively, tocilizumab and nintedanib are 2 newer immunosuppressive drugs that may be helpful in people with progressive lung disease. Some people may need a lung transplant Lung and Heart-Lung Transplantation Lung transplantation is the surgical removal of a healthy lung or part of a lung from a living person and then its transfer into someone whose lungs no longer function. Heart-lung transplantation... read more .

Doctors treat severe pulmonary hypertension Pulmonary Hypertension Pulmonary hypertension is a condition in which blood pressure in the arteries of the lungs (the pulmonary arteries) is abnormally high. Many disorders can cause pulmonary hypertension. People... read more with drugs, including bosentan or epoprostenol.

Heartburn can be relieved by eating small meals, taking antacids, and using proton pump inhibitors, which block stomach acid production. Sleeping with the head of the bed elevated and not lying down within 3 hours of the last meal often help.

Areas of the esophagus narrowed by scar tissue can be surgically widened (dilated).

Antibiotics such as ciprofloxacin and metronidazole can help prevent the overgrowth of bacteria in the damaged intestine and may relieve symptoms of bacterial overgrowth Small Intestinal Bacterial Overgrowth (SIBO) Small intestinal bacterial overgrowth is a disorder in which poor movement of intestinal contents allows certain normal intestinal bacteria to grow excessively, causing diarrhea and poor absorption... read more , such as bloating, gas, and diarrhea.

A calcium channel blocker (such as nifedipine) may relieve the symptoms of Raynaud syndrome but may also increase the reflux of stomach acid. The drugs bosentan, sildenafil, tadalafil, and vardenafil are other alternatives for severe Raynaud syndrome. People should dress warmly, wear gloves, and keep their head warm.

Drugs for high blood pressure, particularly angiotensin-converting enzyme (ACE) inhibitors, are useful in treating acute kidney injury Acute Kidney Injury Acute kidney injury is a rapid (days to weeks) decline in the kidneys’ ability to filter metabolic waste products from the blood. Causes include conditions that decrease blood flow to the kidneys... read more and the rise in blood pressure (scleroderma renal crisis). If chronic kidney disease results and is severe enough to require permanent hemodialysis Hemodialysis Dialysis is an artificial process for removing waste products and excess fluids from the body, a process that is needed when the kidneys are not functioning properly. There are a number of reasons... read more , a kidney transplant may be required.

Autologous stem cell transplantation Stem Cell Transplantation Stem cell transplantation is the removal of stem cells (undifferentiated cells) from a healthy person and their injection into someone who has a serious blood disorder. (See also Overview of... read more may become a treatment option in the future for people who have severe diffuse systemic sclerosis.

Doctors may inject the chemical sodium thiosulfate into calcium deposits in the skin. If the deposits are very large, doctors can surgically remove them. But neither the injection nor surgery is always beneficial.

Physical therapy Physical Therapy (PT) Physical therapy, a component of rehabilitation, involves exercising and manipulating the body with an emphasis on the back, upper arms, and legs. It can improve joint and muscle function, helping... read more and exercise can help maintain muscle strength but cannot totally prevent joints from freezing in contractures.

The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.