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Polyglandular Autoimmune Syndrome Type 1 (PAS-1) is an inherited disease in which the body’s immune system mistakenly attacks healthy cells, notably the glands that produce the body’s hormones. People with PAS-1 have at least two of the disease’s main symptoms: fungal infections of the skin and mucous membranes, decreased function in the parathyroid glands, and decreased function in the adrenal glands (Addison disease). Many people with the disease have all three main symptoms. There are also numerous and diverse other symptoms which can occur.
In the majority of people with PAS-1, the first symptom to appear is recurrent and persistent fungal infections of the skin and mucous membranes, such as the in the moist lining of the nose and mouth. These infections typically begin between the ages of 3 and 5, although they can occur any time before one’s 30s.
Frequently the second symptom of the disease to appear is an underactive parathyroid gland (hypoparathyroidism). This typically occurs before the age of 10. The parathyroid glands normally secrete a hormone used to regulate the amount of calcium and phosphorous in the bone and blood. An underactive parathyroid gland can cause numerous symptoms including tingling in the lips, fingers, and toes; muscle cramps; pain in the abdomen, face, legs, and feet; weakness or fatigue; and dry hair and skin.
Often the third symptom to appear is underactive adrenal glands, a condition known as Addison disease. This disease typically appears before the age of 15. Addison disease can cause fatigue, muscle weakness, weight loss, low blood pressure, and changes in skin coloration.
There are numerous other symptoms which can also occur in people with PAS-1. These include chronic liver disease, extreme fatigue due to a problem with red blood cells, skin disease, total body hair loss, an underactive pituitary gland, abnormalities in the ovaries and testes, diarrhea, difficulty absorbing nutrients from food, and eye problems, among others.
The most common pattern with PAS-1 is that the three main symptoms of the disease—fungal infections of the skin, underactive parathyroid gland, and Addison disease—develop in that order before the age of 20. The other symptoms associated with the disease may then begin sporadically over time until one’s 50s, when the symptoms typically stabilize. This does not hold true for all people with PAS-1, however. Generally speaking, the earlier in life that the main symptoms appear, the more likely it is that additional symptoms will develop.
PAS-1 is a rare condition in the United States, but it is more common among certain ethnic groups. The number of people affected include:
There is no cure for PAS-1. Each symptom must be treated as it arises and lifelong regular checkups are necessary to look for any new symptoms. It is important to discover and treat new symptoms as soon as possible to prevent permanent damage to the body.
Physicians often prescribe hormone replacement therapy or intravenous steroids for people with PAS-1. Calcium and vitamin D are often helpful to treat an underactive parathyroid gland. Fungal infections can be treated with medication.
Other symptoms are treated as they arise. For example, people with diabetes can take insulin and monitor their diet.
The prognosis for a person with PAS-1 varies depending on the number and severity of his or her symptoms. Early detection of the disease and its component symptoms is important for preventing life-threatening scenarios. With careful monitoring, it is possible to have a normal or near-normal lifespan. Women with PAS-1 can give birth, and men with PAS-1 can father healthy children.
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A thorough description of polyglandular autoimmune syndrome, type 1 written by a physician. Please note that some of the language may be technical.
Explanations of an extensive number of genetic diseases written for everyday people by the U.S. government's National Institutes of Health.
Information on PAS-1 from doctors and scientists who specialize in this and other autoimmune diseases..