Autoimmune polyglandular syndrome type 2

Disease Overview

Autoimmune polyglandular syndrome type 2 is an autoimmune disorder that affects many hormone-producing (endocrine) glands.[1537] It is characterized by the presence of Addison’s disease along with autoimmune thyroid disease and/or type 1 diabetes.[1537] Affected individuals may also have problems with other endocrine glands and other common features include primary hypogonadism, myasthenia gravis, and celiac disease. Autoimmune polyglandular syndrome type 2 is diagnosed in adulthood, typically around age 30.[1538] The cause of autoimmune polyglandular syndrome type 2 is unknown, although it may involve a combination of genetic and environmental factors. This condition occurs more often in women than men. About 10% of patients with APS-2 and Addison’s disease had a relative with adrenal insufficiency, and about 10% of patients with APS-2 and type 1 diabetes had a sibling with the same disease, and,  or with autoimmune thyroid disease.[1537][14513]

Currently, there are no unique tests to detect APS-2, but testing for autoantibodies may be helpful in assessing disease risk, since the relevant autoantibodies (such as antibodies to  thyroid peroxidase in autoimmune thyroid disease, or to glutamic acid decarboxylase in type 1 diabetes) are frequently detectable years before disease onset.  Treatment is mainly with hormone replacement therapy.[1537][14513][1538]  

Synonyms

• Autoimmune polyglandular syndrome type II
• PGA-II
• Diabetes mellitus, Addison's disease, myxedema
• Multiple endocrine deficiency syndrome, type 2
• Polyglandular autoimmune syndrome, type 2
• Autoimmune polyendocrine syndrome type 2
• Schmidt syndrome
• Schmidt's syndrome
• APS2
• PGA 2
• Polyglandular deficiency syndrome type 2