Autoimmune polyendocrine syndrome differential diagnosis: Difference between revisions
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[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Autoimmune_polyendocrine_syndrome]] | |||
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Autoimmune polyendocrine syndrome (APS) must be differentiated from other similar conditions which lead to multiple [[endocrine disorders]] such as [[thymoma]], [[Kearns–Sayre syndrome]], [[POEMS syndrome]], and [[Wolfram syndrome]]. APS should also be differentiated among its subtypes such as APS type 1, type 2 and type 3. | Autoimmune polyendocrine syndrome (APS) must be differentiated from other similar conditions which lead to multiple [[endocrine disorders]] such as [[thymoma]], [[Kearns–Sayre syndrome]], [[POEMS syndrome]], and [[Wolfram syndrome]]. APS should also be differentiated among its subtypes such as APS type 1, type 2 and type 3. | ||
==Differentiating Autoimmune | ==Differentiating Autoimmune Polyendocrine Syndrome From Other Diseases== | ||
Different types of autoimmune polyendocrine syndrome should be differentiated from each other. The following table characterizes the differences among various sub-types of APS.<ref name="pmid18322283">{{cite journal |vauthors=Alimohammadi M, Björklund P, Hallgren A, Pöntynen N, Szinnai G, Shikama N, Keller MP, Ekwall O, Kinkel SA, Husebye ES, Gustafsson J, Rorsman F, Peltonen L, Betterle C, Perheentupa J, Akerström G, Westin G, Scott HS, Holländer GA, Kämpe O |title=Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen |journal=N. Engl. J. Med. |volume=358 |issue=10 |pages=1018–28 |year=2008 |pmid=18322283 |doi=10.1056/NEJMoa0706487 |url=}}</ref><ref name="pmid20123958">{{cite journal |vauthors=Puel A, Döffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C, Cobat A, Ouachée-Chardin M, Toulon A, Bustamante J, Al-Muhsen S, Al-Owain M, Arkwright PD, Costigan C, McConnell V, Cant AJ, Abinun M, Polak M, Bougnères PF, Kumararatne D, Marodi L, Nahum A, Roifman C, Blanche S, Fischer A, Bodemer C, Abel L, Lilic D, Casanova JL |title=Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I |journal=J. Exp. Med. |volume=207 |issue=2 |pages=291–7 |year=2010 |pmid=20123958 |pmc=2822614 |doi=10.1084/jem.20091983 |url=}}</ref><ref name="AlimohammadiBjörklund2008">{{cite journal|last1=Alimohammadi|first1=Mohammad|last2=Björklund|first2=Peyman|last3=Hallgren|first3=Åsa|last4=Pöntynen|first4=Nora|last5=Szinnai|first5=Gabor|last6=Shikama|first6=Noriko|last7=Keller|first7=Marcel P.|last8=Ekwall|first8=Olov|last9=Kinkel|first9=Sarah A.|last10=Husebye|first10=Eystein S.|last11=Gustafsson|first11=Jan|last12=Rorsman|first12=Fredrik|last13=Peltonen|first13=Leena|last14=Betterle|first14=Corrado|last15=Perheentupa|first15=Jaakko|last16=Åkerström|first16=Göran|last17=Westin|first17=Gunnar|last18=Scott|first18=Hamish S.|last19=Holländer|first19=Georg A.|last20=Kämpe|first20=Olle|title=Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen|journal=New England Journal of Medicine|volume=358|issue=10|year=2008|pages=1018–1028|issn=0028-4793|doi=10.1056/NEJMoa0706487}}</ref><ref name="pmid21574164">{{cite journal |vauthors=Kisand K, Lilic D, Casanova JL, Peterson P, Meager A, Willcox N |title=Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications |journal=Eur. J. Immunol. |volume=41 |issue=6 |pages=1517–27 |year=2011 |pmid=21574164 |doi=10.1002/eji.201041253 |url=}}</ref><ref name="pmid16741580">{{cite journal |vauthors=Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG |title=Defective regulatory and effector T cell functions in patients with FOXP3 mutations |journal=J. Clin. Invest. |volume=116 |issue=6 |pages=1713–22 |year=2006 |pmid=16741580 |pmc=1472239 |doi=10.1172/JCI25112 |url=}}</ref><ref name="pmid7040622">{{cite journal |vauthors=Powell BR, Buist NR, Stenzel P |title=An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy |journal=J. Pediatr. |volume=100 |issue=5 |pages=731–7 |year=1982 |pmid=7040622 |doi= |url=}}</ref><ref name="pmid18264745">{{cite journal |vauthors=Moraes-Vasconcelos D, Costa-Carvalho BT, Torgerson TR, Ochs HD |title=Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED |journal=J. Clin. Immunol. |volume=28 Suppl 1 |issue= |pages=S11–9 |year=2008 |pmid=18264745 |doi=10.1007/s10875-008-9176-5 |url=}}</ref> | |||
{| class="wikitable" | {| class="wikitable" | ||
| Line 15: | Line 15: | ||
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Autoimmune<br>polyendocrine syndrome<br> type 3 | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Autoimmune<br>polyendocrine syndrome<br> type 3 | ||
|- | |- | ||
|[[Inheritance]] | |style="background:#DCDCDC;" |[[Inheritance]] | ||
|[[Autosomal recessive]] | |[[Autosomal recessive]] | ||
|[[Autosomal dominant]] | |[[Autosomal dominant]] | ||
|[[X-linked]] | |[[X-linked]] | ||
|- | |- | ||
|[[Gene]](s) involved | |style="background:#DCDCDC;" |[[Gene]](s) involved | ||
|[[Autoimmune Regulator|AIRE]] (transcription | |[[Autoimmune Regulator|AIRE]] ([[Transcription factor|transcription facto]]<nowiki/>r) | ||
|[[Polygenic]] | |[[Polygenic]] | ||
|[[FOXP3]] (transcription factor) | |[[FOXP3]] ([[transcription factor]]) | ||
|- | |- | ||
|[[HLA]] [[genotype]] | |style="background:#DCDCDC;" |[[HLA]] [[genotype]] | ||
|HLA-D3 and HLA-D4 | |HLA-D3 and HLA-D4 | ||
|HLA-DQ2 and HLA-DQ8; HLA-DRB1*0404 | |HLA-DQ2 and HLA-DQ8; HLA-DRB1*0404 | ||
|None | |None | ||
|- | |- | ||
|[[Pathogenesis]] | |style="background:#DCDCDC;" |[[Pathogenesis]] | ||
|Autoreactive [[T cells]] escape <br> negative selection | |Autoreactive [[T cells]] escape <br>negative selection | ||
|Unknown | |Unknown | ||
| | | | ||
Defective [[T cell]] regulation leading to [[T cell]]<br> | Defective [[T cell]] regulation leading to [[T cell]]<br>activation and proliferation | ||
activation and proliferation | |||
|- | |- | ||
|[[Age of onset]] | |style="background:#DCDCDC;" |[[Age of onset]] | ||
|[[Infancy]] | |[[Infancy]] | ||
|[[Infancy]] and adulthood | |[[Infancy]] and adulthood | ||
|[[Neonatal]] | |[[Neonatal]] | ||
|- | |- | ||
|Clinical features<br>(most common) | |style="background:#DCDCDC;" |Clinical features<br>(most common) | ||
| | | | ||
[[Candidiasis]]<br>[[Hypoparathyroidism]]<br>[[Addison's disease|Addison’s disease]] | [[Candidiasis]]<br>[[Hypoparathyroidism]]<br>[[Addison's disease|Addison’s disease]] | ||
| Line 48: | Line 47: | ||
[[Addisons disease|Addison’s disease]]<br>[[Diabetes mellitus type 1|Diabetes mellitus type 1A]]<br>[[Autoimmune thyroiditis]] | [[Addisons disease|Addison’s disease]]<br>[[Diabetes mellitus type 1|Diabetes mellitus type 1A]]<br>[[Autoimmune thyroiditis]] | ||
| | | | ||
[[Autoimmune thyroiditis]]<br> | [[Autoimmune thyroiditis]]<br>[[Neonatal]] [[diabetes]]<br>[[Malabsorption]] | ||
Neonatal [[diabetes]]<br> | |||
[[Malabsorption]] | |||
|- | |- | ||
|[[Diabetes]] | |style="background:#DCDCDC;" |[[Diabetes]] | ||
|18% | |18% | ||
|20-50% | |20-50% | ||
|>60% | |>60% | ||
|- | |- | ||
|Other manifestations<br> | |style="background:#DCDCDC;" |Other manifestations<br> | ||
|[[Hepatitis]], [[malabsorption]], asplenism,<br>[[oophoritis]], [[alopecia]] and [[vitiligo]]<br> | |[[Hepatitis]], [[malabsorption]], asplenism,<br>[[oophoritis]], [[alopecia]] and [[vitiligo]]<br> | ||
|[[Gastritis|Autoimmune gastritis]], [[celiac disease]],<br>[[oophoritis]] and [[vitiligo]]<br> | |[[Gastritis|Autoimmune gastritis]], [[celiac disease]],<br>[[oophoritis]] and [[vitiligo]]<br> | ||
|[[Autoimmune thyroiditis]], [[Hemolytic anemia|haemolytic anemia]],<br>[[thrombocytopenia]] and [[lymphadenopathy]]<br> | |[[Autoimmune thyroiditis]], [[Hemolytic anemia|haemolytic anemia]],<br>[[thrombocytopenia]] and [[lymphadenopathy]]<br> | ||
|- | |- | ||
|Gender predisposition | |style="background:#DCDCDC;" |Gender predisposition | ||
|Equal in males and females | |Equal in [[males]] and [[females]] | ||
|Females>males | |[[Females]]>[[males]] | ||
|Males ([[X-linked]]) | |[[Males]] ([[X-linked]]) | ||
|- | |- | ||
|[[Immunodeficiency]] | |style="background:#DCDCDC;" |[[Immunodeficiency]] | ||
|Immunodeficienct | |Immunodeficienct | ||
|No defined [[immunodeficiency]] | |||
|Immunodeficient | |||
|- | |- | ||
|[[Prevalence]] | |style="background:#DCDCDC;" |[[Prevalence]] | ||
|Rare | |Rare | ||
|Common | |Common | ||
| Line 87: | Line 84: | ||
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Other disorders present | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Other disorders present | ||
|- | |- | ||
|APS type 1 | |style="background:#DCDCDC;" |APS type 1 | ||
|<nowiki>+</nowiki> | |<nowiki>+</nowiki> | ||
|Less common | |Less common | ||
| Line 93: | Line 90: | ||
|[[Hypoparathyroidism]]<br>[[Candidiasis]]<br>[[Hypogonadism]] | |[[Hypoparathyroidism]]<br>[[Candidiasis]]<br>[[Hypogonadism]] | ||
|- | |- | ||
|APS type 2 | |style="background:#DCDCDC;" |APS type 2 | ||
| + | | + | ||
| + | | + | ||
| Line 99: | Line 96: | ||
|[[Hypogonadism]]<br>[[Malabsorption]] | |[[Hypogonadism]]<br>[[Malabsorption]] | ||
|- | |- | ||
|APS type 3 | |style="background:#DCDCDC;" |APS type 3 | ||
|<nowiki>-</nowiki> | |<nowiki>-</nowiki> | ||
| + | | + | ||
| Line 105: | Line 102: | ||
|[[Malabsorption]] | |[[Malabsorption]] | ||
|- | |- | ||
|[[Thymoma]] | |style="background:#DCDCDC;" |[[Thymoma]] | ||
| + | | + | ||
|<nowiki>-</nowiki> | |<nowiki>-</nowiki> | ||
| Line 111: | Line 108: | ||
|[[Myasthenia gravis]]<br>[[Cushing syndrome]] | |[[Myasthenia gravis]]<br>[[Cushing syndrome]] | ||
|- | |- | ||
|[[Chromosomal abnormalities]]<br>([[Turner syndrome]],<br>[[Down's syndrome]]) | |style="background:#DCDCDC;" |[[Chromosomal abnormalities]]<br>([[Turner syndrome]],<br>[[Down's syndrome]]) | ||
| - | | - | ||
| + | | + | ||
| Line 117: | Line 114: | ||
|[[Cardiac dysfunction ]] | |[[Cardiac dysfunction ]] | ||
|- | |- | ||
|[[Kearns–Sayre syndrome]] | |style="background:#DCDCDC;" |[[Kearns–Sayre syndrome]] | ||
|<nowiki>-</nowiki> | |<nowiki>-</nowiki> | ||
| + | | + | ||
| Line 123: | Line 120: | ||
|[[Myopathy]]<br>[[Hypoparathyroidism]]<br>[[Hypogonadism]] | |[[Myopathy]]<br>[[Hypoparathyroidism]]<br>[[Hypogonadism]] | ||
|- | |- | ||
|[[Wolfram syndrome]] | |style="background:#DCDCDC;" |[[Wolfram syndrome]] | ||
|<nowiki>-</nowiki> | |<nowiki>-</nowiki> | ||
| + | | + | ||
| Line 129: | Line 126: | ||
|[[Diabetes insipidus]]<br>[[Optic atrophy]]<br>[[Deafness]]<br> | |[[Diabetes insipidus]]<br>[[Optic atrophy]]<br>[[Deafness]]<br> | ||
|- | |- | ||
|[[POEMS syndrome]] | |style="background:#DCDCDC;" |[[POEMS syndrome]] | ||
|<nowiki>-</nowiki> | |<nowiki>-</nowiki> | ||
| + | | + | ||
Latest revision as of 20:42, 26 February 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Akshun Kalia M.B.B.S.[2]
Overview
Autoimmune polyendocrine syndrome (APS) must be differentiated from other similar conditions which lead to multiple endocrine disorders such as thymoma, Kearns–Sayre syndrome, POEMS syndrome, and Wolfram syndrome. APS should also be differentiated among its subtypes such as APS type 1, type 2 and type 3.
Differentiating Autoimmune Polyendocrine Syndrome From Other Diseases
Different types of autoimmune polyendocrine syndrome should be differentiated from each other. The following table characterizes the differences among various sub-types of APS.[1][2][3][4][5][6][7]
| Characterstic | Autoimmune polyendocrine syndrome type 1 |
Autoimmune polyendocrine syndrome type 2 |
Autoimmune polyendocrine syndrome type 3 |
|---|---|---|---|
| Inheritance | Autosomal recessive | Autosomal dominant | X-linked |
| Gene(s) involved | AIRE (transcription factor) | Polygenic | FOXP3 (transcription factor) |
| HLA genotype | HLA-D3 and HLA-D4 | HLA-DQ2 and HLA-DQ8; HLA-DRB1*0404 | None |
| Pathogenesis | Autoreactive T cells escape negative selection |
Unknown |
Defective T cell regulation leading to T cell |
| Age of onset | Infancy | Infancy and adulthood | Neonatal |
| Clinical features (most common) |
Addison’s disease |
||
| Diabetes | 18% | 20-50% | >60% |
| Other manifestations |
Hepatitis, malabsorption, asplenism, oophoritis, alopecia and vitiligo |
Autoimmune gastritis, celiac disease, oophoritis and vitiligo |
Autoimmune thyroiditis, haemolytic anemia, thrombocytopenia and lymphadenopathy |
| Gender predisposition | Equal in males and females | Females>males | Males (X-linked) |
| Immunodeficiency | Immunodeficienct | No defined immunodeficiency | Immunodeficient |
| Prevalence | Rare | Common | Very rare |
Autoimmune polyendocrine syndrome (APS) must be differentiated from other similar conditions which lead to multiple endocrine disorders such as POEMS syndrome, Hirata syndrome, Kearns–Sayre syndrome and Wolfram syndromes.[8][9][10][11][12]
| Disease | Addison's disease | Type 1 diabetes mellitus | Hypothyroidism | Other disorders present |
|---|---|---|---|---|
| APS type 1 | + | Less common | Less common | Hypoparathyroidism Candidiasis Hypogonadism |
| APS type 2 | + | + | + | Hypogonadism Malabsorption |
| APS type 3 | - | + | + | Malabsorption |
| Thymoma | + | - | + | Myasthenia gravis Cushing syndrome |
| Chromosomal abnormalities (Turner syndrome, Down's syndrome) |
- | + | + | Cardiac dysfunction |
| Kearns–Sayre syndrome | - | + | - | Myopathy Hypoparathyroidism Hypogonadism |
| Wolfram syndrome | - | + | - | Diabetes insipidus Optic atrophy Deafness |
| POEMS syndrome | - | + | - | Polyneuropathy Hypogonadism Plasma cell dyscrasias |
References
- ↑ Alimohammadi M, Björklund P, Hallgren A, Pöntynen N, Szinnai G, Shikama N, Keller MP, Ekwall O, Kinkel SA, Husebye ES, Gustafsson J, Rorsman F, Peltonen L, Betterle C, Perheentupa J, Akerström G, Westin G, Scott HS, Holländer GA, Kämpe O (2008). "Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen". N. Engl. J. Med. 358 (10): 1018–28. doi:10.1056/NEJMoa0706487. PMID 18322283.
- ↑ Puel A, Döffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C, Cobat A, Ouachée-Chardin M, Toulon A, Bustamante J, Al-Muhsen S, Al-Owain M, Arkwright PD, Costigan C, McConnell V, Cant AJ, Abinun M, Polak M, Bougnères PF, Kumararatne D, Marodi L, Nahum A, Roifman C, Blanche S, Fischer A, Bodemer C, Abel L, Lilic D, Casanova JL (2010). "Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I". J. Exp. Med. 207 (2): 291–7. doi:10.1084/jem.20091983. PMC 2822614. PMID 20123958.
- ↑ Alimohammadi, Mohammad; Björklund, Peyman; Hallgren, Åsa; Pöntynen, Nora; Szinnai, Gabor; Shikama, Noriko; Keller, Marcel P.; Ekwall, Olov; Kinkel, Sarah A.; Husebye, Eystein S.; Gustafsson, Jan; Rorsman, Fredrik; Peltonen, Leena; Betterle, Corrado; Perheentupa, Jaakko; Åkerström, Göran; Westin, Gunnar; Scott, Hamish S.; Holländer, Georg A.; Kämpe, Olle (2008). "Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen". New England Journal of Medicine. 358 (10): 1018–1028. doi:10.1056/NEJMoa0706487. ISSN 0028-4793.
- ↑ Kisand K, Lilic D, Casanova JL, Peterson P, Meager A, Willcox N (2011). "Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications". Eur. J. Immunol. 41 (6): 1517–27. doi:10.1002/eji.201041253. PMID 21574164.
- ↑ Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG (2006). "Defective regulatory and effector T cell functions in patients with FOXP3 mutations". J. Clin. Invest. 116 (6): 1713–22. doi:10.1172/JCI25112. PMC 1472239. PMID 16741580.
- ↑ Powell BR, Buist NR, Stenzel P (1982). "An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy". J. Pediatr. 100 (5): 731–7. PMID 7040622.
- ↑ Moraes-Vasconcelos D, Costa-Carvalho BT, Torgerson TR, Ochs HD (2008). "Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED". J. Clin. Immunol. 28 Suppl 1: S11–9. doi:10.1007/s10875-008-9176-5. PMID 18264745.
- ↑ Sherer Y, Bardayan Y, Shoenfeld Y (1997). "Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (Review)". Int. J. Oncol. 10 (5): 939–43. PMID 21533467.
- ↑ Nozza, Andrea (2017). "POEMS SYNDROME: AN UPDATE". Mediterranean Journal of Hematology and Infectious Diseases. 9 (1): e2017051. doi:10.4084/mjhid.2017.051. ISSN 2035-3006.
- ↑ Maceluch JA, Niedziela M (2006). "The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy". Pediatr Endocrinol Rev. 4 (2): 117–37. PMID 17342029.
- ↑ Rigoli L, Di Bella C (2012). "Wolfram syndrome 1 and Wolfram syndrome 2". Curr. Opin. Pediatr. 24 (4): 512–7. doi:10.1097/MOP.0b013e328354ccdf. PMID 22790102.
- ↑ Husebye, Eystein S.; Anderson, Mark S. (2010). "Autoimmune Polyendocrine Syndromes: Clues to Type 1 Diabetes Pathogenesis". Immunity. 32 (4): 479–487. doi:10.1016/j.immuni.2010.03.016. ISSN 1074-7613.