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.Type 1 diabetes also occurs in some patients with this condition. 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.  APS-1 is caused by variations (mutations) in the AIREgene. Inheritance is autosomal recessive. Treatment may includehormone-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.
How rare is autoimmune polyglandular syndrome type 1?
Autoimmune polyglandular syndrome type 1 is thought to be a rare condition, with about 500 cases reported worldwide. This condition occurs more frequently in certain populations, including Iranian Jews, Sardinians, and Finns.
Last updated: 12/28/2015
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Sanford E, Watkins K, Nahas S & cols. Rapid whole genome sequencing identifies a novel AIRE variant associated with Autoimmune Polyendocrine Syndrome Type 1. Cold Spring Harb Mol Case Stud. February 1, 2018; https://www.ncbi.nlm.nih.gov/pubmed/29437776.