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{{Autoimmune polyendocrine syndrome}} | {{Autoimmune polyendocrine syndrome}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}}{{Akshun}} | ||
==Overview== | ==Overview== | ||
The diagnosis of [ | 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|21-hydroxylase]], [[17 alpha-hydroxylase deficiency|17-hydroxylase]], GAD, islet cells, [[thyroglobulin]], [[thyroid peroxidase]], [[intrinsic factor]] and [[tyrosinase]]. [[Genetic analysis]] may be done in suspected patients of APS for [[Autoimmune Regulator|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== | ==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|21-hydroxylase]], [[17 alpha-hydroxylase deficiency|17-hydroxylase]], GAD, islet cells, [[thyroglobulin]], [[thyroid peroxidase]], [[intrinsic factor]] and [[tyrosinase]]. [[Genetic analysis]] may be done in suspected patients of APS for [[Autoimmune Regulator|AIRE]] or [[FOXP3]] [[gene mutation]].<ref name="pmid12843130">{{cite journal |vauthors=Dittmar M, Kahaly GJ |title=Polyglandular autoimmune syndromes: immunogenetics and long-term follow-up |journal=J. Clin. Endocrinol. Metab. |volume=88 |issue=7 |pages=2983–92 |year=2003 |pmid=12843130 |doi=10.1210/jc.2002-021845 |url=}}</ref><ref name="AliKozodoy2013">{{cite journal|last1=Ali|first1=Yaseen|last2=Kozodoy|first2=Nataliya|last3=Ali|first3=Taseen|title=Polyglandular autoimmune syndrome type 2: diagnosed in the intensive care unit|journal=Therapeutic Advances in Endocrinology and Metabolism|volume=4|issue=6|year=2013|pages=170–172|issn=2042-0188|doi=10.1177/2042018813515698}}</ref><ref name="pmid8626850">{{cite journal |vauthors=Chen S, Sawicka J, Betterle C, Powell M, Prentice L, Volpato M, Rees Smith B, Furmaniak J |title=Autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome, Addison's disease, and premature ovarian failure |journal=J. Clin. Endocrinol. Metab. |volume=81 |issue=5 |pages=1871–6 |year=1996 |pmid=8626850 |doi=10.1210/jcem.81.5.8626850 |url=}}</ref><ref name="pmid1347802">{{cite journal |vauthors=Krohn K, Uibo R, Aavik E, Peterson P, Savilahti K |title=Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17 alpha-hydroxylase |journal=Lancet |volume=339 |issue=8796 |pages=770–3 |year=1992 |pmid=1347802 |doi= |url=}}</ref> | |||
*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:<ref name="pmid2348835">{{cite journal |vauthors=Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J |title=Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients |journal=N. Engl. J. Med. |volume=322 |issue=26 |pages=1829–36 |year=1990 |pmid=2348835 |doi=10.1056/NEJM199006283222601 |url=}}</ref> | |||
**[[Mucocutaneous]] [[candidiasis]] | |||
**[[Hypoparathyroidism]] | |||
**[[Adrenal insufficiency]] | |||
*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 1|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]] | |||
*Mucocutaneous candidiasis | |||
*Hypoparathyroidism | |||
* | |||
==References== | ==References== | ||
Latest revision as of 16:15, 8 February 2018
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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.