Polyglandular Autoimmune Syndrome Type II

Excerpt

Polyglandular autoimmune syndrome (PAS) is a clustering of at least 2 or more endocrine diseases in a single patient. Common autoimmune polyglandular syndromes are PAS-1, PAS-2 and X-linked immune dysregulation polyendocrinopathy and enteropathy (IPEX). Recently, a new category has emerged. It is iatrogenic polyendocrinopathy due to use of immunoregulatory agents in patients with cancer. Ipilimumab which is used to treat metastatic cancer can cause hypophysitis. Polyglandular autoimmune syndrome type 2 (PAS-2) is an autoimmune disease with polygenic inheritance. It is also called Schmidt syndrome and Carpenter syndrome. The clustering of multiple endocrine diseases in a single patient was documented well before the classification of PAS came into existence. In 1926, Schmidt published 2 cases of Addison disease and chronic lymphocytic thyroiditis known as Schmidt syndrome. Five years later, in 1931, Rowntree and Snell reported the first case of Addison disease with hyperthyroidism and type 1 diabetes mellitus (T1DM).. Beaven et al. reviewed 66 cases, and Solomon et al. reviewed 113 cases of Addison disease and diabetes mellitus. Post-mortem investigation showed lymphocytic infiltration in the glands in the majority of these cases, confirming that it was an autoimmune disease. Carpenter confirmed the association of diabetes mellitus with Schmidt syndrome in a review of 142 cases of Schmidt syndrome and coined the term Carpenter syndrome, which is a triad of Addison disease, autoimmune thyroid disease, and TIDM. This review focuses on the diagnosis and management of PAS-2 defined by the cluster of T1DM, auto-immune thyroid disease, and Addison disease.