[Autoimmune polyglandular syndromes]

Autoimmune polyglandular syndromes are conditions characterised by the association of two or more organ-specific disorders. On the basis of the clinical picture, they are divided into four different types. Type 1 is a monogenic autoimmune syndrome, which is caused by defect in AIRE gene located on chromosome 21. Its major components include mucocutaneous candidiasis, hypoparathyroidism and Addison's disease. Type 2 is defined as the combination of autoimmune adrenal insufficiency with autoimmune thyroid disease and/or type 1 diabetes mellitus. Type 3 is composed of autoimmune thyroid diseases associated with other autoimmune conditions with the exception of Addison's disease. The remaining autoimmune combinations not included in the previous groups belong to type 4. Proper care of individuals with autoimmune polyendocrine syndromes requires knowledge of the problems that may arise, and the best approaches to detect and care for the manifestations of these incurable, but manageable, diseases. The objective of this paper is to review the aetiology, clinical manifestations, diagnosis and treatment of autoimmune polyglandular syndromes with a special emphasis on the most recent literature.