Autoimmune Polyendocrine Syndrome Type 2: Pathophysiology, Natural History, And Clinical Manifestations

Autoimmune Polyendocrine Syndrome Type 2 (APS-2) is the association of multiple organ-specific autoimmune diseases including but not limited to type I diabetes, Addison's disease, and autoimmune thyroid disease. Additional autoimmune diseases are associated with APS-2, in particular celiac disease. The diseases share a common pathophysiology characterized by T-cell mediated destruction of the target organ. The component diseases of APS-2 have overlapping genetic risk factors. The natural history is characterized by a long preclinical phase, identifiable by the presence of organ-specific autoantibodies and normal gland function. Over time, destruction of the gland progresses and clinical disease develops. Treatment addresses the underlying hormonal abnormalities. Subjects with one autoimmune disease are at risk for the development of additional autoimmune diseases and therefore careful clinical and laboratory screening is required for follow-up.