Scleroderma is also known as systemic sclerosis. It is a connective tissue disease that is classified as autoimmune and rheumatic. It can involve scarring, pain, inflammation, and blood vessel problems. In particular, it is associated with an overactive immune system. It is estimated that 300,000 Americans have scleroderma. Although hardening of the skin is one of the most visible signs of the disease, it presents with symptoms that are similar to other autoimmune diseases, making its diagnosis difficult. Local scleroderma is common in children and adults are often afflicted with systemic scleroderma. Even though the disease can develop in any age group, its onset is most prevalent between the ages of 25 to 55. Factors that may influence whether a person acquires scleroderma include race and ethnic background. The disease is not directly inherited, but researchers have found that there is a relationship between the disease and other rheumatic diseases that run in families.
The symptoms of scleroderma are varied, as with other autoimmune diseases. Scleroderma is characterized by the formation of thick skin or scar tissue. Scar tissue may also form in the internal organs, such as in the liver or the kidneys. There are two types of scleroderma as mentioned: localized and systemic.
Localized scleroderma involves skin changes in localized areas. These skin changes are either in the form of morphea patches of linear scleroderma. The former is localized to an area of skin hat then becomes highly pigmented and causes multiple lesions on the skin. Linear scleroderma, on the other hand, usually involves the lower extremities. It frequently presents as a strip of hardened skin down the leg.
Systemic scleroderma is so called because of internal organ involvement in addition to the skin. It is subcategorized according to the extent of skin involvement as either limited or diffused. The diffuse form involves the thickening of the face, trunk, next, and extremities, as well as the bowels, esophagus, kidneys, and heart. The limited form tends to be limited to thickening in the face, fingers, and hands. Limited scleroderma is also known as CREST, because of its components.
CREST stands for calcinosis, Reynaud’s phenomenon, esophageal disease, sclerodactyly, and telangiectasis.
The causes of scleroderma are unknown as of the present. Researchers have speculated that scleroderma is related to hereditary and environmental factors. The result of the interplay of these factors is the activation of the immune system of a susceptible individual. The activation of immune responses leads to damages in small blood vessels, causing a cascade of responses leading to the accumulation of excess collagen in the skin and other tissues. Genes for autoimmune diseases in relatives of patients with scleroderma are commonly found, thus, it cannot be discounted that inheritance is a factor in the causation of scleroderma.
Inherited antigens are thought to contribute to the development of scleroderma in susceptible individuals. In particular, human leukocyte antigens (HLA) are correlated with an increased risk for scleroderma. There are, however, environmental risk factors for scleroderma. These include exposure to silica dust, such as those who work in gold and coal mines. Exposure to certain chemicals is also a risk factor. Chemicals such as epoxy resin, vinyl chloride, and pesticides increase the risk of developing scleroderma. Solvents, like benzene and toluene, and medications, such as bleomycin and carbidopa, increase the risk of developing the disease. Other risk factors for scleroderma include age. Studies have shown that it is 4 times more common in women who are between the ages of 30 and 50. It is also more common in women with diabetes. In addition, exposure to viruses seems to predispose some individuals to develop scleroderma.
Scleroderma seems to be more common in African Americans and Choctaw Native Americans. Women who already had prior pregnancies are also at higher risk. This is because fetal cells are triggers for immune reactions. The effects of estrogen may also trigger immune reactions. However, more research needs to be done in order to confirm this theory.
Reynaud’s Phenomenon is one of the complications of scleroderma. The phenomenon attacks several times a day and is worsened or triggered by cold. Exposure to warmth relieves these attacks. However, in severe cases, attacks can occur at any temperature. In addition, open sores or damage to the bones or skin may also occur in cases where circulation is cut off for long periods of time. Typically, the fingers undergo three color changes. First, they become pale, then they become bluish and when warmth returns, they become red.
Involvement of the skin is the hallmark of scleroderma. The skin becomes hardened, but it may, for a short period of time, become puffy and soft, usually for 2 to 3 years. However, as the disease progresses, it becomes hardened and shiny, as the skin stretches over bones and muscles. In severe cases, the fingers may be encased in the skin that is so tight that they lose the ability to bend and move. The feet and hands may curl from skin that is too tight. It may also be difficult to open the mouth.
Telangiectasis, or flat red marks, usually appear in various locations. They appear in the lips, face, or pals. Calcinosis, which are toothpaste-like lumps, may form underneath the skin. These make the patient susceptible to infections. The entire skin surface may become dark over time, with patches of pale skin.
Patients with scleroderma may also develop mild arthritis, bone loss in the fingers, and muscle weakness. In addition, those with the disease may also experience scarring in the muscles of the esophagus, which leads to impaired esophageal motility. This results in trouble swallowing, gastroesophageal reflux disease (GERD), and heartburn. Impaired stomach activity is also found in about 80% of patients with scleroderma. They are also at higher risk for stomach cancer. Intestinal problems with motility also develop, leading to constipation and an increase in bacterial levels. As a result of bacteria, they have trouble absorbing nutrients from food.
Lung problems in patients with scleroderma are the leading causes of death. Pulmonary hypertension and pulmonary fibrosis are associated with scleroderma. They may occur independently or together.
The American College of Rheumatology developed both major and minor criteria for diagnosing scleroderma. Thickening of the skin, usually found on the hands and fingers, as well as on the face, abdomen, neck, and chest, is a major criterion. On the other hand, thickening of the skin on the fingers, tissue loss on finger pads, and bibasilar pulmonary fibrosis (the development of abnormal tissue at the bases of the lungs) are minor criteria. When two minor criteria along with one major criterion are present, systemic sclerosis is diagnosed.
In order to diagnose scleroderma, it is necessary to perform laboratory tests, physical exams, and imaging tests. Blood tests may also be performed. These blood tests are designed to detect excess gamma globulin, inflammation, red blood cell deficiency, or antinuclear antibodies. Additional tests to detect creatinine may be necessary for patients when kidney involvement is suspected.
In patients whom lung involvement is suspected, other tests may be performed. These tests are designed to assess pulmonary function. On the other hand, electrocardiography and a Holter (24h) monitor may be indicated for patients who are suspected of having cardiac involvement.
In addition to these, virtually all patients with scleroderma have blood tests that show a high prevalence of antinuclear antibodies (ANA), which suggests autoimmune diseases. The anticentromere antibody, which is a particular antibody, is found in the CREST variety of scleroderma. In the diffuse form of systemic sclerosis, anti-Scl 70 antibodies are often detected.
The treatment for scleroderma is symptomatic. Medications to keep blood vessels open, such as ACE inhibitors, endothelin receptor antagonists, and prostacyclins, are used to treat Reynaud’s Phenomenon. They are also used to treat pulmonary hypertension and heart and kidney problems. Any use of a medicine must be with the advice of a doctor.
Other treatment options are used to block damaging immune factors and reduce inflammation. Such drugs include penicillamine, cyclophosphamide, and bone marrow transplantation. These may also be helpful in reducing scarring in the lungs, kidneys, and the heart, and thickening of the skin.
Specific complications are also treated. Proton-pump inhibitors are used to treat heartburn associated with GERD. Prokinetic agents are used to treating problems with motility in the stomach and intestines, while the light is used to treat the skin.
There is no cure for scleroderma. The vast majority of drugs that have proven to be useful for autoimmune disorders are not effective against it. Experimental treatments are underway to address the processes that cause the most extensive damages. However, developing treatments for scleroderma is problematic for a number of reasons, such as the disease’s unpredictable course, its multi-organ system involvement, and its rarity.
Emotional and psychological support should thus be offered to patients with scleroderma. Since the disease evolves over time, either slowly or rapidly, the patient lives with great uncertainty. Emotional distress is to be expected. Non-medical aids that help relieve stress and other lifestyle measures should be used. Protecting the patient from cold and trauma is one measure to prevent Reynaud’s phenomenon.