Autoimmune polyendocrine syndrome differential diagnosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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 X from other Diseases
Autoimmune polyendocrine syndrome must be differentiated among its subtype. The following table characterises the difference among various subtypes 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 genptype | 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 | Immunodeficienct |
| 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
Malabssobtion |
| APS type 3 | - | + | + | Malabsortion |
| 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 dyscrasis |
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.