Autoinmune polyendocrinopathy

Med Clin (Barc). 2021 Sep 10;157(5):241-246. doi: 10.1016/j.medcli.2021.02.004. Epub 2021 May 3.
[Article in English, Spanish]

Abstract

Pluriglandular autoimmune syndrome (APS) can affect multiple endocrine glands and is associated with other autoimmune diseases. APS type 1 presents with hypoparathyroidism, mucocutaneous candidiasis and Addison's disease. It is caused by AutoImmune Regulator (AIRE) gene mutation. The diagnosis includes clinical manifestations in addition to AIRE gene sequencing. SPA type 2 presents with Addison's disease, type 1 diabetes, or autoimmune thyroid disease. Multiple genes have been implicated, including those of the class II major histocompatibility complex. SPA type 3 is characterized by autoimmune thyroid disease and other autoimmune disease, excluding Addison's disease and hypoparathyroidism, 4 genes have been implicated and confer susceptibility. The diagnosis of APS type 2 and type 3 includes clinical manifestations, nevertheless, the determination of autoantibodies can be useful to predict the risk of disease manifestation and to confirm the autoimmune disease in some cases.

Keywords: Autoimmune diseases; Autoinmune polyendocrinopathy; Enfermedades autoinmunes; Poliendocrinopatía autoinmune; Polyendocrine Syndrome; Síndrome poliendocrino.

Publication types

  • Review

MeSH terms

  • Addison Disease* / diagnosis
  • Addison Disease* / genetics
  • Autoantibodies
  • Diabetes Mellitus, Type 1* / diagnosis
  • Diabetes Mellitus, Type 1* / genetics
  • Humans
  • Hypoparathyroidism* / diagnosis
  • Hypoparathyroidism* / genetics
  • Polyendocrinopathies, Autoimmune* / diagnosis
  • Polyendocrinopathies, Autoimmune* / genetics

Substances

  • Autoantibodies