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Autoimmune polyendocrine syndrome screening

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Akshun Kalia M.B.B.S.[2]

Overview

Screening is an important aspect in early diagnosis and management of autoimmune polyendocrine syndrome (APS). The onset of APS is often with a single endocrine disorder and the subsequent involvement of other endocrine/non-endocrine organs may take up to years or decades. In patients of APS, high clinical suspicion should be maintained for presence of other autoimmune disorders. Once a patient has been diagnosed with a single autoimmune endocrine disorder, screening should be done for presence of other auto-antibodies such as 21- hydroxylase or 17-hydroxylase.

Screening

Screening is an important aspect in early diagnosis and management of autoimmune polyendocrine syndrome (APS). The onset of APS is often with a single endocrine disorder and the subsequent involvement of other endocrine/non-endocrine organs may take up to years or decades. In patients of APS, high clinical suspicion should be maintained for presence of other autoimmune disorders:[1][2][3][4][5][6]

References

  1. Erichsen MM, Løvås K, Skinningsrud B, Wolff AB, Undlien DE, Svartberg J, Fougner KJ, Berg TJ, Bollerslev J, Mella B, Carlson JA, Erlich H, Husebye ES (2009). “Clinical, immunological, and genetic features of autoimmune primary adrenal insufficiency: observations from a Norwegian registry”. J. Clin. Endocrinol. Metab. 94 (12): 4882–90. doi:10.1210/jc.2009-1368. PMID 19858318.
  2. Betterle C, Morlin L (2011). “Autoimmune Addison’s disease”. Endocr Dev. 20: 161–72. doi:10.1159/000321239. PMID 21164269.
  3. Eisenbarth GS, Gottlieb PA (2004). “Autoimmune polyendocrine syndromes”. N. Engl. J. Med. 350 (20): 2068–79. doi:10.1056/NEJMra030158. PMID 15141045.
  4. Badenhoop K, Walfish PG, Rau H, Fischer S, Nicolay A, Bogner U, Schleusener H, Usadel KH (1995). “Susceptibility and resistance alleles of human leukocyte antigen (HLA) DQA1 and HLA DQB1 are shared in endocrine autoimmune disease”. J. Clin. Endocrinol. Metab. 80 (7): 2112–7. doi:10.1210/jcem.80.7.7608264. PMID 7608264.
  5. Corazza GR, Di Sario A, Cecchetti L, Jorizzo RA, Di Stefano M, Minguzzi L, Brusco G, Bernardi M, Gasbarrini G (1996). “Influence of pattern of clinical presentation and of gluten-free diet on bone mass and metabolism in adult coeliac disease”. Bone. 18 (6): 525–30. PMID 8805992.
  6. Hoffenberg EJ, Bao F, Eisenbarth GS, Uhlhorn C, Haas JE, Sokol RJ, Rewers M (2000). “Transglutaminase antibodies in children with a genetic risk for celiac disease”. J. Pediatr. 137 (3): 356–60. doi:10.1067/mpd.2000.107582. PMID 10969260.

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