autoimmune polyglandular syndrome type 1

What Is Autoimmune Polyglandular Syndrome Type 1?

Autoimmune polyglandular syndrome type 1 (APS1), caused by mutations in the AIRE gene, is an inherited disease in which the body's immune system mistakenly attacks healthy cells, especially those of the glands that produce the body's hormones. Individuals with APS1 have at least two of the disease's main symptoms: fungal infections of the skin and mucous membranes (chronic mucocutaneous candidiasis), decreased function in the parathyroid glands (hypoparathyroidism), and decreased function in the adrenal glands (Addison's disease). Many individuals with the disease have all three main symptoms. The disturbance in hormone production may also lead to a variety of other symptoms.

In the majority of individuals with APS1, the first symptom to appear is recurrent and persistent fungal infections of the skin and mucous membranes, such as in the lining of the nose, mouth, and esophagus. These infections typically begin before age 5.

Individuals with APS1 typically develop an underactive parathyroid gland (hypoparathyroidism) by age 10. 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.

APS1 will usually lead to under-active adrenal glands by age 15. Since the adrenal glands are not secreting enough hormones, individuals with APS1 can experience fatigue, muscle weakness, weight loss, low blood pressure, and changes in skin coloration.

There are numerous other symptoms which can also occur in individuals with APS1 including but not limited to: chronic liver disease, extreme fatigue, skin disease, hair loss, under-active pituitary gland, abnormalities in the ovaries and testes, diarrhea, digestive issues, and eye problems. The severity and exact symptoms can vary from individual to individual.

How Common Is Autoimmune Polyglandular Syndrome Type 1?

APS1 affects approximately 1 in 145,000 individuals worldwide. The incidence of APS1 is more common among certain ethnic groups. The incidence of APS1 in Iranian Jewish individuals is 1 in 6,500 to 1 in 9,000, in Sardinian individuals, it is 1 in 14,000, in Finnish individuals, it is 1 in 25,000, in Slovenian individuals, it is 1 in 43,000, and in Norwegian individuals, it is 1 in 80,000.

How Is Autoimmune Polyglandular Syndrome Type 1 Treated?

There is no cure for APS1. Each symptom is 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 drugs to help replenish the hormones that are deficient in individuals with APS1. 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 appear. For example, individuals with APS1 who develop diabetes can take insulin and monitor their diet.

What Is the Prognosis for an Individual with Autoimmune Polyglandular Syndrome Type 1?

The prognosis for an individual with APS1 varies depending on the number and severity of his or her symptoms. Most individuals with APS1 will have at least two of the three main symptoms of the disease: fungal infections of the skin and mucous membranes, decreased function in the parathyroid glands, and decreased function in the adrenal glands. Early detection and treatment of the disease are important for achieving the best quality of life possible. Life expectancy may be shortened by complications from various symptoms.