Autoimmune polyendocrine syndrome diagnostic study of choice: Difference between revisions
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==Diagnostic Criteria== | ==Diagnostic Criteria== | ||
The diagnosis of autoimmune polyendocrine syndrome (APS) is made in the 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.<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) is made in the 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 can be done suspected patients of APS for 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> | *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 | **Mucocutaneous candidiasis | ||
| Line 33: | Line 31: | ||
**Vitiligo/alopecia | **Vitiligo/alopecia | ||
An important point worth mentioning in APS type 1, is that the symptoms develop over the course of years and decades. Thus in patients having autoimmune disorders of two more organs suggestive of APS type 1 should undergo regular screening to identify other associated conditions. Suspected patients can also be tested for AIRE gene mutation. | An important point worth mentioning in APS type 1, is that the symptoms develop over the course of years and decades. Thus in patients having autoimmune disorders of two more organs suggestive of APS type 1 should undergo regular screening to identify other associated conditions. Suspected patients can also be tested for AIRE gene mutation. | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
OR
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
OR
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
OR
There are no established criteria for the diagnosis of [disease name]. Patients presenting with a single endocrine pathology should always be considered for other endocrine organ dysfunction. Patients with 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 in the 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 can be done 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]
- 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 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
An important point worth mentioning in APS type 1, is that the symptoms develop over the course of years and decades. Thus in patients having autoimmune disorders of two more organs suggestive of APS type 1 should undergo regular screening to identify other associated conditions. Suspected patients can also be tested for AIRE gene mutation.
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.