Autoimmune polyendocrine syndrome screening: Difference between revisions
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==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 (medicine)|screening]] should be done for presence of other [[Autoantibodies|auto-antibodies]] such as [[21-Hydroxylase|21- hydroxylase]] or 17-hydroxylase. | [[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 (medicine)|screening]] should be done for presence of other [[Autoantibodies|auto-antibodies]] such as [[21-Hydroxylase|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. | [[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]]:<ref name="pmid19858318">{{cite journal |vauthors=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 |title=Clinical, immunological, and genetic features of autoimmune primary adrenal insufficiency: observations from a Norwegian registry |journal=J. Clin. Endocrinol. Metab. |volume=94 |issue=12 |pages=4882–90 |year=2009 |pmid=19858318 |doi=10.1210/jc.2009-1368 |url=}}</ref><ref name="pmid21164269">{{cite journal |vauthors=Betterle C, Morlin L |title=Autoimmune Addison's disease |journal=Endocr Dev |volume=20 |issue= |pages=161–72 |year=2011 |pmid=21164269 |doi=10.1159/000321239 |url=}}</ref><ref name="pmid15141045">{{cite journal |vauthors=Eisenbarth GS, Gottlieb PA |title=Autoimmune polyendocrine syndromes |journal=N. Engl. J. Med. |volume=350 |issue=20 |pages=2068–79 |year=2004 |pmid=15141045 |doi=10.1056/NEJMra030158 |url=}}</ref><ref name="pmid7608264">{{cite journal |vauthors=Badenhoop K, Walfish PG, Rau H, Fischer S, Nicolay A, Bogner U, Schleusener H, Usadel KH |title=Susceptibility and resistance alleles of human leukocyte antigen (HLA) DQA1 and HLA DQB1 are shared in endocrine autoimmune disease |journal=J. Clin. Endocrinol. Metab. |volume=80 |issue=7 |pages=2112–7 |year=1995 |pmid=7608264 |doi=10.1210/jcem.80.7.7608264 |url=}}</ref><ref name="pmid8805992">{{cite journal |vauthors=Corazza GR, Di Sario A, Cecchetti L, Jorizzo RA, Di Stefano M, Minguzzi L, Brusco G, Bernardi M, Gasbarrini G |title=Influence of pattern of clinical presentation and of gluten-free diet on bone mass and metabolism in adult coeliac disease |journal=Bone |volume=18 |issue=6 |pages=525–30 |year=1996 |pmid=8805992 |doi= |url=}}</ref><ref name="pmid10969260">{{cite journal |vauthors=Hoffenberg EJ, Bao F, Eisenbarth GS, Uhlhorn C, Haas JE, Sokol RJ, Rewers M |title=Transglutaminase antibodies in children with a genetic risk for celiac disease |journal=J. Pediatr. |volume=137 |issue=3 |pages=356–60 |year=2000 |pmid=10969260 |doi=10.1067/mpd.2000.107582 |url=}}</ref> | ||
* 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]]. | * 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 (medicine)|screening]] should be done for presence of other [[Autoantibodies|auto-antibodies]] such as [[21-Hydroxylase|21- hydroxylase]], 17-hydroxylase, [[thyroid peroxidase]], [[parietal cell]], anti-intrinsic factor and [[islet cell]] antibodies. | *Once a patient has been diagnosed with a single [[autoimmune]] [[endocrine disorder]], [[Screening (medicine)|screening]] should be done for presence of other [[Autoantibodies|auto-antibodies]] such as [[21-Hydroxylase|21- hydroxylase]], [[17 alpha-hydroxylase deficiency|17-hydroxylase]], [[thyroid peroxidase]], [[parietal cell]], anti-intrinsic factor and [[islet cell]] [[antibodies]]. | ||
*Recent research | *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== | ||
Latest revision as of 21:14, 27 October 2017
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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
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]
- 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
- ↑ 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.
- ↑ Betterle C, Morlin L (2011). "Autoimmune Addison's disease". Endocr Dev. 20: 161–72. doi:10.1159/000321239. PMID 21164269.
- ↑ Eisenbarth GS, Gottlieb PA (2004). "Autoimmune polyendocrine syndromes". N. Engl. J. Med. 350 (20): 2068–79. doi:10.1056/NEJMra030158. PMID 15141045.
- ↑ 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.
- ↑ 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.
- ↑ 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.