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Autoimmune polyglandular syndrome type 1 is an inherited autoimmune condition that affects many of the body’s organs. Symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. This syndrome can cause a variety of additional signs and symptoms, such as weak teeth (enamel hypoplasia) and chronic diarrhea or constipation.[1246] Also, about 60% of the women with APS-1 who are younger than 30 years of age develop primary ovarian insufficiency.[14513]
Complications of APS-1 can affect the bones, joints, skin, and nails, the gonads (ovaries and testicles), the eyes, the thyroid, and several internal organs (kidneys, liver, lungs and the spleen). Anemia may also be present due to a lack of production of the red blood cells.[14513] Type 1 diabetes also occurs in some patients with this condition.[1246] APS-1 is progressive, with symptoms appearing at different time intervals (chronic mucocutaneous candidiasis and hypoparathyroidism classically appear early in childhood, whereas adrenal insufficiency usually start in the second decade of life). Diagnosis is suspected when there are at least two of these features, specially in young people. [14513][14514] APS-1 is caused by variations (mutations) in the AIRE gene. Inheritance is autosomal recessive.[1246] Treatment may include hormone-replacement, and medication for candidiasis, as well as specific treatment of any complications. Patients with APS-1 are best followed by an endocrinologist and other specialists.[14513]
Most people with APS-1, develop earlier and more severe symptoms than people with a related disease known as autoimmune polyendocrine syndrome type 2 (APS-2).
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