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Auto-Immune Diseases

June 14, 2013

Autoimmune 1Autoimmune Disease
by NIAID/NIH

The diagnosis of an autoimmune disease is based on an individual’s symptoms, findings from a physical examination, and results from laboratory tests. Autoimmune diseases can be difficult to diagnose, particularly early in the course of the disease. Symptoms of many autoimmune diseases—such as fatigue—are nonspecific. Laboratory test results may help but are often inadequate to confirm a diagnosis.

If an individual has skeletal symptoms such as joint pain and a positive but nonspecific lab test, she or he may be diagnosed with the confusing name of early or “undifferentiated” connective tissue disease. In this case, a physician may want the patient to return frequently for follow up. The early phase of disease may be a very frustrating time for both the patient and physician. On the other hand, symptoms may be short-lived, and inconclusive laboratory tests may amount to nothing of a serious nature.

In some cases, a specific diagnosis can be made. A diagnosis shortly after onset of a patient’s symptoms will allow for early aggressive medical therapy; and for some diseases, patients will respond completely to treatments if the reason for their symptoms is discovered early in the course of their disease.

Although autoimmune diseases are chronic, the course they take is unpredictable. A doctor cannot foresee what will happen to the patient based on how the disease starts. Patients should be monitored closely by their doctors so environmental factors or triggers that may worsen the disease can be discussed and avoided and new medical therapy can be started as soon as possible. Frequent visits to a doctor are important in order for the physician to manage complex treatment regimens and watch for medication side effects.

Autoimmune diseases are often chronic, requiring lifelong care and monitoring, even when the person may look or feel well. Currently, few autoimmune diseases can be cured or made to “disappear” with treatment. However, many people with these diseases can live normal lives when they receive appropriate medical care.

Physicians most often help patients manage the consequences of inflammation caused by the autoimmune disease. For example, in people with Type 1 diabetes, physicians prescribe insulin to control blood sugar levels so that elevated blood sugar will not damage the kidneys, eyes, blood vessels, and nerves. However, the goal of scientific research is to prevent inflammation from causing destruction of the insulin-producing cells of the pancreas, which are necessary to control blood sugars.

On the other hand, in some diseases such as lupus or rheumatoid arthritis, medication can occasionally slow or stop the immune system’s destruction of the kidneys or joints. Medications or therapies that slow or suppress the immune system response in an attempt to stop the inflammation involved in the autoimmune attack are called immunosuppressive medications. Unfortunately, these medications also suppress the ability of the immune system to fight infection and have other potentially serious side effects.

In some people, a limited number of immuno-suppressive medications may result in disease remission. Remission is the medical term used for “disappearance” of a disease for a significant amount of time. Even if their disease goes into remission, patients are rarely able to discontinue medications. The possibility that the disease may restart when medication is discontinued must be balanced with the long-term side effects from the immunosuppressive medication.

A current goal in caring for patients with autoimmune diseases is to find treatments that produce remissions with fewer side effects. Much research is focused on developing therapies that target various steps in the immune response. New approaches such as therapeutic antibodies against specific T cell molecules may produce fewer long-term side effects than the chemotherapies that now are routinely used.

Inflammatory Bowel Diseases

This medical term is used for both Crohn’s disease and ulcerative colitis, two diseases in which the immune system attacks the gut (intestine). Patients may have diarrhea, nausea, vomiting, abdominal cramps, and pain that can be difficult to control. Illness in afflicted individuals can result from intestinal inflammation and from side effects of the drugs used for the disease. For example, daily use of high-dose corticosteroid (prednisone) therapy, which is needed to control severe symptoms of Crohn’s disease, can predispose patients to infections, bone thinning (osteoporosis), and fractures. For patients with ulcerative colitis, surgical removal of the lower intestine (colon) will eliminate the disease and their increased risk for colon cancer. More than 1 in 500 Americans has some type of inflammatory bowel disease.

Systemic Lupus Erythematosus

Patients with systemic lupus erythematosus most commonly experience profound fatigue, rashes, and joint pains. In severe cases, the immune system may attack and damage several organs such as the kidney, brain, or lung. For many individuals, symptoms and damage from the disease can be controlled with available anti-inflammatory medications. However, if a patient is not closely monitored, the side effects from the medications can be quite serious. Lupus occurs in 1 out of 2,000 Americans and in as many as 1 in 250 young, African-American women.

Psoriasis

Psoriasis is an immune system disorder that affects the skin, and occasionally the eyes, nails, and joints. Psoriasis may affect very small areas of skin or cover the entire body with a buildup of red scales called plaques. The plaques are of different sizes, shapes, and severity and may be painful as well as unattractive. Bacterial infections and pressure or trauma to the skin can aggravate psoriasis. Most treatments focus on topical skin care to relieve the inflammation, itching, and scaling. For more severe cases, oral medications are used. Psoriasis is common and may affect more than 2 out of 100 Americans. Psoriasis often runs in families.

Scleroderma

This autoimmune disease results in thickening of the skin and blood vessels. Almost every patient with scleroderma has Raynaud’s, which is a spasm of the blood vessels of the fingers and toes. Symptoms of Raynaud’s include increased sensitivity of the fingers and toes to the cold, changes in skin color, pain, and occasionally ulcers of the fingertips or toes. In people with scleroderma, thickening of skin and blood vessels can result in loss of movement and shortness of breath or, more rarely, in kidney, heart, or lung failure. The estimated number of people with any type of scleroderma varies from study to study but may range from 1 to 4 affected individuals for every 10,000 Americans (or as many as 1 out of 2500 individuals).

Autoimmune Thyroid Diseases

Hashimoto’s thyroiditis and Grave’s disease result from immune system destruction or stimulation of thyroid tissue. Symptoms of low (hypo-) or overactive (hyper-) thyroid function are nonspecific and can develop slowly or suddenly; these include fatigue, nervousness, cold or heat intolerance, weakness, changes in hair texture or amount, and weight gain or loss. The diagnosis of thyroid disease is readily made with appropriate laboratory tests.

The symptoms of hypothyroidism are controlled with replacement thyroid hormone pills; however, complications from over- or under-replacement of the hormone can occur. Treatment of hyperthyroidism requires long-term anti-thyroid drug therapy or destruction of the thyroid gland with radioactive iodine or surgery. Both of these treatment approaches carry certain risks and long-term side effects. Autoimmune thyroid diseases afflict as many as 4 out of 100 women and are frequently found in families where there are other autoimmune diseases.

Source: http://www.niaid.nih.gov/publications/autoimmune/autoimmune.htm

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