
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions β written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Autoimmune polyendocrine syndrome screening
Introduction
Overview
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
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]
- In APS type 1, the time interval between onset of mucocutaneous candidiasis and hypoparathyroidism may take upto five years and further involvement of adrenal glands may take upto ten years. Thus, a high degree of clinical suspicion is necessary in patients with a single autoimmune endocrine disorder.
- 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, 17-hydroxylase, thyroid peroxidase, parietal cell, anti-intrinsic factor and islet cell antibodies.
- Recent research has shown that in APS, autoantibodies can develop at any age and there is insufficient evidence to suggest optimum interval between testing. For example patients of celiac disease are often asymptomatic and are detected only after screening for transglutaminase autoantibodies. Thus, individuals with single autoimmune disorder should be rescreened for autoantibodies for other autoimmune conditions at appropriate intervals even if their initial autoantibody tests are negative.
References
References
- β Erichsen MM, LΓΈvΓ₯s 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): 4882β90. doi:10.1210/jc.2009-1368. PMIDΒ 19858318.
- β Betterle C, Morlin L (2011). “Autoimmune Addison’s disease”. Endocr Dev. 20: 161β72. doi:10.1159/000321239. PMIDΒ 21164269.
- β Eisenbarth GS, Gottlieb PA (2004). “Autoimmune polyendocrine syndromes”. N. Engl. J. Med. 350 (20): 2068β79. doi:10.1056/NEJMra030158. PMIDΒ 15141045.
- β 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): 2112β7. doi:10.1210/jcem.80.7.7608264. PMIDΒ 7608264.
- β 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): 525β30. PMIDΒ 8805992.
- β 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): 356β60. doi:10.1067/mpd.2000.107582. PMIDΒ 10969260.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Akshun Kalia M.B.B.S.[2]
