132 - Autoimmune Polyglandular Syndromes

Abstract

Autoimmune polyglandular syndromes (APSs) are characterized by the appearance of multiple endocrinopathies caused by a breakdown of normal self-tolerance leading to autoimmune responses directed against the target organs. Presentation occurs between infancy and old age, with new components appearing throughout life. There is a huge variation in patterns and frequencies of autoimmunity in affected individuals. APS tends to aggregate in families indicating strong heritability. A number of immune response genes associate with APS, but environmental factors also play a key role. APS type 1 is a rare autosomal recessive condition in which patients typically have at least two of the following: chronic mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. In addition, there may be a wide range of other endocrine and nonendocrine disorders. APS type 2 is common, polygenic, and defined by the appearance of at least two key disorders (Addison disease, autoimmune thyroid disease, type 1 diabetes mellitus) in the same patient.