Autoimmune polyendocrine syndrome differential diagnosis: Difference between revisions

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__NOTOC__
__NOTOC__
{{Autoimmune polyendocrine syndrome}}
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Autoimmune_polyendocrine_syndrome]]
{{CMG}}; {{AE}}
{{CMG}}; {{AE}}{{Akshun}}


==Overview==
==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.
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 X from other Diseases==
==Differentiating Autoimmune Polyendocrine Syndrome From Other Diseases==
Autoimmune polyendocrine syndrome must be differentiated among its subtype. The following table characterises the difference among various subtypes 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>
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"
!Characterstic
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Characterstic
!Autoimmune
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Autoimmune<br>polyendocrine syndrome<br> type 1
polyendocrine syndrome  
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Autoimmune<br>polyendocrine syndrome<br> type 2
 
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Autoimmune<br>polyendocrine syndrome<br> type 3
type 1
!Autoimmune
polyendocrine syndrome  
 
type 2
!Autoimmune
polyendocrine syndrome  
 
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
|AIRE (transcription factor)
|[[Autoimmune Regulator|AIRE]] ([[Transcription factor|transcription facto]]<nowiki/>r)
|Polygenic
|[[Polygenic]]
|FOXP3 (transcription factor)
|[[FOXP3]] ([[transcription factor]])
|-
|-
|HLA genptype
|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  
|Autoreactive [[T cells]] escape <br>negative selection
negative selection
|Unknown
|Unknown
|Defective T cell regulation leading to T cell  
|
activation and proliferation
Defective [[T cell]] regulation leading to [[T cell]]<br>activation and proliferation
|-
|-
|Age of onset
|style="background:#DCDCDC;" |[[Age of onset]]
|Infancy
|[[Infancy]]
|Infancy and adulthood
|[[Infancy]] and adulthood
|Neonatal  
|[[Neonatal]]
|-
|-
|Clinical features
|style="background:#DCDCDC;" |Clinical features<br>(most common)
(most common)
|
|Candidiasis
[[Candidiasis]]<br>[[Hypoparathyroidism]]<br>[[Addison's disease|Addison’s disease]]
Hypoparathyroidism
|
 
[[Addisons disease|Addison’s disease]]<br>[[Diabetes mellitus type 1|Diabetes mellitus type 1A]]<br>[[Autoimmune thyroiditis]]
Addison’s disease
|
|Addison’s disease
[[Autoimmune thyroiditis]]<br>[[Neonatal]] [[diabetes]]<br>[[Malabsorption]]
Diabetes mellitus type 1A
 
Autoimmune thyroiditis
|Autoimmune thyroiditis
Neonatal diabetes
Malabsorption
|-
|-
|Diabetes
|style="background:#DCDCDC;" |[[Diabetes]]
|18%
|18%
|20-50%
|20-50%
|>60%
|>60%
|-
|-
|Other manifestations
|style="background:#DCDCDC;" |Other manifestations<br>
|Hepatitis, malabsorption, asplenism,  
|[[Hepatitis]], [[malabsorption]], asplenism,<br>[[oophoritis]], [[alopecia]] and [[vitiligo]]<br>
oophoritis, alopecia and vitiligo
|[[Gastritis|Autoimmune gastritis]], [[celiac disease]],<br>[[oophoritis]] and [[vitiligo]]<br>
|Autoimmune gastritis, celiac disease,  
|[[Autoimmune thyroiditis]], [[Hemolytic anemia|haemolytic anemia]],<br>[[thrombocytopenia]] and [[lymphadenopathy]]<br>
oophoritis and vitiligo
|Autoimmune thyroiditis, haemolytic anemia,  
thrombocytopenia and lymphadenopathy
|-
|-
|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
|No defined immunodeficiency
|Immunodeficienct
|Immunodeficienct
|No defined [[immunodeficiency]]
|Immunodeficient
|-
|-
|Prevalence
|style="background:#DCDCDC;" |[[Prevalence]]
|Rare
|Rare
|Common
|Common
Line 94: Line 75:
|}
|}


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.<ref name="pmid21533467">{{cite journal |vauthors=Sherer Y, Bardayan Y, Shoenfeld Y |title=Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (Review) |journal=Int. J. Oncol. |volume=10 |issue=5 |pages=939–43 |year=1997 |pmid=21533467 |doi= |url=}}</ref><ref name="Nozza2017">{{cite journal|last1=Nozza|first1=Andrea|title=POEMS SYNDROME: AN UPDATE|journal=Mediterranean Journal of Hematology and Infectious Diseases|volume=9|issue=1|year=2017|pages=e2017051|issn=2035-3006|doi=10.4084/mjhid.2017.051}}</ref><ref name="pmid17342029">{{cite journal |vauthors=Maceluch JA, Niedziela M |title=The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy |journal=Pediatr Endocrinol Rev |volume=4 |issue=2 |pages=117–37 |year=2006 |pmid=17342029 |doi= |url=}}</ref><ref name="pmid22790102">{{cite journal |vauthors=Rigoli L, Di Bella C |title=Wolfram syndrome 1 and Wolfram syndrome 2 |journal=Curr. Opin. Pediatr. |volume=24 |issue=4 |pages=512–7 |year=2012 |pmid=22790102 |doi=10.1097/MOP.0b013e328354ccdf |url=}}</ref><ref name="HusebyeAnderson2010">{{cite journal|last1=Husebye|first1=Eystein S.|last2=Anderson|first2=Mark S.|title=Autoimmune Polyendocrine Syndromes: Clues to Type 1 Diabetes Pathogenesis|journal=Immunity|volume=32|issue=4|year=2010|pages=479–487|issn=10747613|doi=10.1016/j.immuni.2010.03.016}}</ref>
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 syndrome|Wolfram syndromes]].<ref name="pmid21533467">{{cite journal |vauthors=Sherer Y, Bardayan Y, Shoenfeld Y |title=Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (Review) |journal=Int. J. Oncol. |volume=10 |issue=5 |pages=939–43 |year=1997 |pmid=21533467 |doi= |url=}}</ref><ref name="Nozza2017">{{cite journal|last1=Nozza|first1=Andrea|title=POEMS SYNDROME: AN UPDATE|journal=Mediterranean Journal of Hematology and Infectious Diseases|volume=9|issue=1|year=2017|pages=e2017051|issn=2035-3006|doi=10.4084/mjhid.2017.051}}</ref><ref name="pmid17342029">{{cite journal |vauthors=Maceluch JA, Niedziela M |title=The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy |journal=Pediatr Endocrinol Rev |volume=4 |issue=2 |pages=117–37 |year=2006 |pmid=17342029 |doi= |url=}}</ref><ref name="pmid22790102">{{cite journal |vauthors=Rigoli L, Di Bella C |title=Wolfram syndrome 1 and Wolfram syndrome 2 |journal=Curr. Opin. Pediatr. |volume=24 |issue=4 |pages=512–7 |year=2012 |pmid=22790102 |doi=10.1097/MOP.0b013e328354ccdf |url=}}</ref><ref name="HusebyeAnderson2010">{{cite journal|last1=Husebye|first1=Eystein S.|last2=Anderson|first2=Mark S.|title=Autoimmune Polyendocrine Syndromes: Clues to Type 1 Diabetes Pathogenesis|journal=Immunity|volume=32|issue=4|year=2010|pages=479–487|issn=10747613|doi=10.1016/j.immuni.2010.03.016}}</ref>


{| class="wikitable"
{| class="wikitable"
!Disease  
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Disease  
!Addison's disease
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Addison's disease
!Type 1 diabetes mellitus
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Type 1 diabetes mellitus
!Hypothyroidism
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Hypothyroidism
!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
|Less common
|Less common
|Hypoparathyroidism
|[[Hypoparathyroidism]]<br>[[Candidiasis]]<br>[[Hypogonadism]]
Candidiasis
 
Hypogonadism
|-
|-
|APS  type 2
|style="background:#DCDCDC;" |APS  type 2
| +
| +
| +
| +
| +
| +
|Hypogonadism
|[[Hypogonadism]]<br>[[Malabsorption]]
Malabssobtion
|-
|-
|APS  type 3
|style="background:#DCDCDC;" |APS  type 3
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| +
| +
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
|Malabsortion
|[[Malabsorption]]
|-
|-
|Thymoma
|style="background:#DCDCDC;" |[[Thymoma]]
| +
| +
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| +
| +
|Myasthenia gravis
|[[Myasthenia gravis]]<br>[[Cushing syndrome]]
Cushing syndrome
|-
|-
|Chromosomal abnormalities
|style="background:#DCDCDC;" |[[Chromosomal abnormalities]]<br>([[Turner syndrome]],<br>[[Down's syndrome]])
(Turner syndrome,  
 
Down's syndrome)
| -
| -
| +
| +
| +
| +
|Cardiac dysfunction  
|[[Cardiac dysfunction ]]
|-
|-
|[[Kearns–Sayre syndrome]]
|style="background:#DCDCDC;" |[[Kearns–Sayre syndrome]]
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| +
| +
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|Myopathy
|[[Myopathy]]<br>[[Hypoparathyroidism]]<br>[[Hypogonadism]]
Hypoparathyroidism
 
Hypogonadism
|-
|-
|Wolfram syndrome
|style="background:#DCDCDC;" |[[Wolfram syndrome]]
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| +
| +
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|Diabetes insipidus
|[[Diabetes insipidus]]<br>[[Optic atrophy]]<br>[[Deafness]]<br>
Optic atrophy
 
Deafness
|-
|-
|POEMS syndrome
|style="background:#DCDCDC;" |[[POEMS syndrome]]
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| +
| +
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|Polyneuropathy
|[[Polyneuropathy]]<br>[[Hypogonadism]]<br>[[Plasma cell dyscrasia|Plasma cell dyscrasias]]
Hypogonadism
 
Plasma cell dyscrasis
|}
|}


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
activation and proliferation

Age of onset Infancy Infancy and adulthood Neonatal
Clinical features
(most common)

Candidiasis
Hypoparathyroidism
Addison’s disease

Addison’s disease
Diabetes mellitus type 1A
Autoimmune thyroiditis

Autoimmune thyroiditis
Neonatal diabetes
Malabsorption

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

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ Sherer Y, Bardayan Y, Shoenfeld Y (1997). "Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (Review)". Int. J. Oncol. 10 (5): 939–43. PMID 21533467.
  9. ↑ 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.
  10. ↑ 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.
  11. ↑ 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.
  12. ↑ 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.

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