Autoimmune polyendocrine syndrome type 2

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Autoimmune polyendocrine syndrome type 2
HLA-DQ2.5 gliadin.PNG
HLA-DQ2 one of the human leukocyte antigens genotypes responsible for this condition
Classification and external resources
Specialty endocrinology
ICD-10 E31.0
ICD-9-CM 258.1
OMIM 269200
DiseasesDB 29690
eMedicine med/1868
MeSH D016884
Orphanet 3143

Autoimmune polyendocrine syndrome type 2, a form of autoimmune polyendocrine syndrome also known as Schmidt's syndrome,[1] or APS-II, is the most common form of the polyglandular failure syndromes.[2] It is heterogeneous and has not been linked to one gene. Rather, individuals are at a higher risk when they carry a particular human leukocyte antigen (HLA-DQ2, HLA-DQ8 and HLA-DR4). APS-II affects women to a greater degree than men.[2]

Symptoms and signs[edit]

Symptoms(and signs) that are consistent with this disorder are the following:[3][1][4]

Hashimoto thyroiditis

Genetics[edit]

HLA(haplotypes)

In terms of genetics one finds that autoimmune polyendocrine syndrome type 2 has an autosomal dominant(and recessive) inheritance[5][6] Furthermore, the human leukocyte antigen involved in this condition are HLA-DQ2(DR3 (DQB*0201)) and HLA-DQ8(DR4 (DQB1*0302)),[7] genetically speaking, which indicates this is a multifactorial disorder,as well[8][1]

Should any affected organs show chronic inflammatory infiltrate(lymphocytes), this would be an indication. Moreover, autoantibodies reacting to specific antigens is common, in the immune system of an affected individual[4]

Diagnosis[edit]

In terms of genetic testing, while it is done for type 1 of this condition, type 2 will only render(or identify) those genes which place the individual at higher risk.[9] Other methods/exam to ascertain if an individual has autoimmune polyendocrine syndrome type 2 are:[10]

Treatment[edit]

Type of glucocorticoid

Management of autoimmune polyendocrine syndrome type 2 consists of the following:[4]

History[edit]

Some researchers favour splitting this syndrome into three distinct syndromes (numbering 2, 3 and 4), but evidence for these distinct combinations is not convincing.[citation needed] The condition was recognized by Martin Benno Schmidt (1863 – 1949), a German pathologist, first described in 1926.[11]

See also[edit]

References[edit]

  1. ^ a b c "Autoimmune polyglandular syndrome type 2 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-04-12. 
  2. ^ a b Greenspan, Francis S.; Gardner, David C. (2004). Basic clinical endocrinology. New York: McGraw-Hill. p. 103. ISBN 0-07-140297-7. 
  3. ^ Betterle C, Zanchetta R (April 2003). "Update on autoimmune polyendocrine syndromes (APS)". Acta Biomed. 74 (1): 9–33. PMID 12817789. 
  4. ^ a b c "Type II Polyglandular Autoimmune Syndrome Clinical Presentation: History, Physical, Causes". emedicine.medscape.com. Retrieved 2017-04-13. 
  5. ^ Betterle, Corrado; Dal Pra, Chiara; Mantero, Franco; Zanchetta, Renato (2002-06-01). "Autoimmune Adrenal Insufficiency and Autoimmune Polyendocrine Syndromes: Autoantibodies, Autoantigens, and Their Applicability in Diagnosis and Disease Prediction". Endocrine Reviews. 23 (3): 327–364. ISSN 0163-769X. doi:10.1210/edrv.23.3.0466. 
  6. ^ "OMIM Entry - % 269200 - AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2". omim.org. Retrieved 2017-04-13. 
  7. ^ Majeroni, BA; Patel, P (1 March 2007). "Autoimmune polyglandular syndrome, type II.". American family physician. 75 (5): 667–70. PMID 17375512. Retrieved 13 April 2017. 
  8. ^ Reference, Genetics Home. "What are complex or multifactorial disorders?". Genetics Home Reference. Retrieved 2017-04-19. 
  9. ^ Weiss, Roy E.; Refetoff, Samuel (2016). Genetic Diagnosis of Endocrine Disorders. Academic Press. p. 367. ISBN 9780128011348. Retrieved 19 April 2017. 
  10. ^ Betterle, C; Lazzarotto, F; Presotto, F (19 April 2017). "Autoimmune polyglandular syndrome Type 2: the tip of an iceberg?". Clinical and Experimental Immunology. 137 (2): 225–233. ISSN 0009-9104. doi:10.1111/j.1365-2249.2004.02561.x. Retrieved 19 April 2017. 
  11. ^ Eisenbarth, George S. (2011). Immunoendocrinology: Scientific and Clinical Aspects. Springer Science & Business Media. p. 143. ISBN 9781603274784. Retrieved 13 April 2017. 

Further reading[edit]

External links[edit]