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APS-1 is diagnosed definitively through DNA analysis (via blood test) of mutations in the AIRE gene. The diagnosis should be strongly considered in people under 30 years of age who present with at least two of the three typical disease components (CMC, hypoparathyroidism, and/or Addisons disease).
The classic symptoms include chronic fatigue, muscle weakness, loss of appetite, weight loss, nausea, vomiting, diarrhea, hyperpigmentation of the skin, and low blood pressure.
APS type 1 is a very rare disorder. In Finland, where the highest number of patient groups with APS type 1 has been reported, the estimated prevalence is about 1 in 25,000 inhabitants. In the majority of the cases, the syndrome occurs in childhood (35).
Other manifestations include periodic rash with fever, kerato-conjunctivitis, chronic diarrhea, primary gonadal failure occurring pre-or post-puberty, Hashimoto thyroiditis with hypothyroidism, Vitamin B12 deficiency, chronic active hepatitis, (T1DM), and ectodermal dystrophy-hence the term APECED (Autoimmune Poly
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inherited condition that affects many of the bodys organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the bodys own tissues and organs by mistake.
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It is due to mutations in the AIRE gene and inherited in an autosomal recessive manner. Over 60 mutations have been reported to cause APS-1. It is a rare disease; however, it is more common in Sardinians and Iranian Jews. AIRE encodes for a protein named autoimmune regulator.
Treatment. Autoimmune polyendocrine syndrome is a lifelong condition that may involve more organs over time. Your childs treatment will be targeted to the associated disorders and may include hormone replacement therapy and anti-fungal medications.
Autoimmune polyendocrine syndrome (APS) type 1 is an autosomal recessive disease whose aetiology is due to a mutation in the Autoimmune Regulator (AIRE) gene. The estimated prevalence is 1:80,000 in most countries, with Finland (1:25,000), Sardinia (1:14,000) and Israel (1:9,000) being the highest.
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy - PMC.
Autoimmune polyglandular syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is characterized by the triad of hypoparathyroidism, Addison disease, and chronic mucocutaneous candidiasis.

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