Autoimmune polyendocrine syndrome diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Akshun Kalia M.B.B.S.[2]
Overview
The diagnosis of autoimmune polyendocrine syndrome (APS) is made on the basis of presence of organ-specific antibodies (serological measurement) followed by functional testing. Few examples of organ-specific antibodies include autoantibodies against 21-hydroxylase, 17-hydroxylase, GAD, islet cells, thyroglobulin, thyroid peroxidase, intrinsic factor and tyrosinase. Genetic analysis may be done in suspected patients of APS for AIRE or FOXP3 gene mutation. Patients presenting with a single endocrine pathology should always be considered for other endocrine organ dysfunction. Patients with the autoimmune endocrine disorder are always at a risk of developing autoimmune conditions of other endocrine organs.
Diagnostic Criteria
The diagnosis of autoimmune polyendocrine syndrome (APS) is made on the basis of presence of organ-specific antibodies (serological measurement) followed by functional testing. Few examples of organ-specific antibodies include autoantibodies against 21-hydroxylase, 17-hydroxylase, GAD, islet cells, thyroglobulin, thyroid peroxidase, intrinsic factor and tyrosinase. Genetic analysis may be done in suspected patients of APS for AIRE or FOXP3 gene mutation.[1][2][3][4]
- The diagnosis of autoimmune polyendocrine syndrome (APS) type 1 is made when at least 2 of the following 3 conditions are present
OR
- 1 of the following 3 is present, if a first-degree relative is already diagnosed:[5]
- The diagnosis of autoimmune polyendocrine syndrome (APS) type 2 is made in the presence of Addison's disease with autoimmune thyroiditis (Schmidt's syndrome) and/or together with diabetes mellitus type I.
- The diagnosis of autoimmune polyendocrine syndrome (APS) type 3 is made in the presence of autoimmune thyroiditis with presence of any of the following conditions:
- Immune mediated diabetes
- Pernicious anemia
- Vitiligo/alopecia
References
- ↑ Dittmar M, Kahaly GJ (2003). "Polyglandular autoimmune syndromes: immunogenetics and long-term follow-up". J. Clin. Endocrinol. Metab. 88 (7): 2983–92. doi:10.1210/jc.2002-021845. PMID 12843130.
- ↑ Ali, Yaseen; Kozodoy, Nataliya; Ali, Taseen (2013). "Polyglandular autoimmune syndrome type 2: diagnosed in the intensive care unit". Therapeutic Advances in Endocrinology and Metabolism. 4 (6): 170–172. doi:10.1177/2042018813515698. ISSN 2042-0188.
- ↑ Chen S, Sawicka J, Betterle C, Powell M, Prentice L, Volpato M, Rees Smith B, Furmaniak J (1996). "Autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome, Addison's disease, and premature ovarian failure". J. Clin. Endocrinol. Metab. 81 (5): 1871–6. doi:10.1210/jcem.81.5.8626850. PMID 8626850.
- ↑ Krohn K, Uibo R, Aavik E, Peterson P, Savilahti K (1992). "Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17 alpha-hydroxylase". Lancet. 339 (8796): 770–3. PMID 1347802.
- ↑ Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J (1990). "Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients". N. Engl. J. Med. 322 (26): 1829–36. doi:10.1056/NEJM199006283222601. PMID 2348835.