Autoimmune polyendocrine syndromes comprise a diverse group of clinical conditions characterized by functional impairment of multiple endocrine glands due to loss of immune tolerance. These syndromes also frequently include conditions such as alopecia, vitiligo, celiac disease, and autoimmune gastritis with vitamin B12 deficiency that affect nonendocrine organs. Autoimmune polyendocrine syndromes are insidious and are characterized by circulating autoantibodies and lymphocytic infiltration of the affected tissues or organs, eventually leading to organ failure.


Autoimmune polyendocrine syndromes can occur in patients from early infancy to old age, and new components of a given syndrome can appear throughout life. In the past decade, we have seen the unraveling of new monogenic forms of the autoimmune polyendocrine syndrome and better diagnostic tools, both genetic tests and autoantibody analyses. More knowledge on genetic mechanisms and environmental triggers may permit subclassifying autoimmune polyendocrine syndromes into distinct entities that have relevance for treatment and prognosis. Combining early and refined diagnostics with personalized genomics could enable physicians to apply early immunomodulatory therapy that would stop the autoimmune process before irreversible organ damage occurs.