Medicine:Autoimmune polyendocrine syndrome type 2

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Autoimmune polyendocrine syndrome type 2
Other namesSchmidt's syndrome[1]
HLA-DQ2.5 gliadin.PNG
HLA-DQ2 one of the human leukocyte antigens genotypes responsible for this condition
SymptomsAsplenia[1]
Risk factorsHuman leukocyte antigen (HLA-DQ2, HLA-DQ8 and HLA-DR4)[2]
Diagnostic methodUltrasound, MRI[3]
TreatmentThyroid-stimulating hormone[4]

Autoimmune polyendocrine syndrome type 2, a form of autoimmune polyendocrine syndrome also known as APS-II, or PAS II, is the most common form of the polyglandular failure syndromes.[2] PAS II is defined as the association between autoimmune Addison's disease and either autoimmune thyroid disease, type 1 diabetes, or both.[5] 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]

Signs and symptoms

Signs and symptoms that are consistent in an individual affected with autoimmune polyendocrine syndrome type 2 are the following:[1][4][6]

Hashimoto thyroiditis

Genetics

HLA(haplotypes)

In terms of genetics one finds that autoimmune polyendocrine syndrome type 2 has an autosomal dominant pattern of inheritance, with an incomplete penetrance.[7][8] Furthermore, the human leukocyte antigen involved in this condition are HLA-DQ2(DR3 (DQB*0201)) and HLA-DQ8(DR4 (DQB1*0302)),[9] genetically speaking, which indicates this is a multifactorial disorder, as well.[1][10]

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

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.[11] Other methods/exam to ascertain if an individual has autoimmune polyendocrine syndrome type 2 are:[3]

Treatment

Type of glucocorticoid

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

History

The condition was recognized by Martin Benno Schmidt (1863 – 1949), a German pathologist, first described in 1926.[12] A third subtype, PAS III, has been described in adults, but apart from the absence of adrenal failure, no clinical differences between types II and III have been described. Because of this, both of these subtypes are generally referred to as PAS II.[13][14]

Society and culture

  • U.S. President John F. Kennedy is presumed to have suffered from Autoimmune Polyendocrine Syndrome, Type II. [15][16]

See also

References

  1. ↑ 1.0 1.1 1.2 1.3 "Autoimmune polyglandular syndrome type 2 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" (in en). https://rarediseases.info.nih.gov/diseases/7611/index. 
  2. ↑ 2.0 2.1 2.2 Greenspan, Francis S.; Gardner, David C. (2004). Basic clinical endocrinology. New York: McGraw-Hill. pp. 103. ISBN 978-0-07-140297-2. https://archive.org/details/isbn_9780071402972/page/103. 
  3. ↑ 3.0 3.1 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. doi:10.1111/j.1365-2249.2004.02561.x. ISSN 0009-9104. PMID 15270837. 
  4. ↑ 4.0 4.1 4.2 4.3 "Type II Polyglandular Autoimmune Syndrome Clinical Presentation: History, Physical, Causes" (in en). http://emedicine.medscape.com/article/124287-clinical#showall. 
  5. ↑ Kahaly, George J. (2012-12-01). "Polyglandular Autoimmune Syndrome Type II" (in en). La Presse Médicale 41 (12): e663–e670. doi:10.1016/j.lpm.2012.09.011. ISSN 0755-4982. PMID 23159534. 
  6. ↑ "Update on autoimmune polyendocrine syndromes (APS)". Acta Biomed 74 (1): 9–33. April 2003. PMID 12817789. 
  7. ↑ 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. doi:10.1210/edrv.23.3.0466. ISSN 0163-769X. PMID 12050123. 
  8. ↑ "OMIM Entry - % 269200 - AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2" (in en-us). https://omim.org/entry/269200. 
  9. ↑ Majeroni, BA; Patel, P (1 March 2007). "Autoimmune polyglandular syndrome, type II." (in en). American Family Physician 75 (5): 667–70. PMID 17375512. http://www.aafp.org/afp/2007/0301/p667.html. Retrieved 13 April 2017. 
  10. ↑ Reference, Genetics Home. "What are complex or multifactorial disorders?" (in en). https://ghr.nlm.nih.gov/primer/mutationsanddisorders/complexdisorders. 
  11. ↑ Weiss, Roy E.; Refetoff, Samuel (2016) (in en). Genetic Diagnosis of Endocrine Disorders. Academic Press. p. 367. ISBN 9780128011348. https://books.google.com/books?id=geScBAAAQBAJ&q=Autoimmune+polyendocrine+syndrome+type+2+diagnosis&pg=PA370. Retrieved 19 April 2017. 
  12. ↑ Eisenbarth, George S. (2011) (in en). Immunoendocrinology: Scientific and Clinical Aspects. Springer Science & Business Media. p. 143. ISBN 9781603274784. https://books.google.com/books?id=JYbDzAjBnHoC&q=Autoimmune+polyendocrine+syndrome+type+2&pg=PA143. Retrieved 13 April 2017. 
  13. ↑ Kahaly, George J.; Dittmar, Manuela (2003-07-01). "Polyglandular Autoimmune Syndromes: Immunogenetics and Long-Term Follow-Up" (in en). The Journal of Clinical Endocrinology & Metabolism 88 (7): 2983–2992. doi:10.1210/jc.2002-021845. ISSN 0021-972X. PMID 12843130. 
  14. ↑ Kahaly, George J. (2009-07-01). "Polyglandular autoimmune syndromes" (in en-US). European Journal of Endocrinology 161 (1): 11–20. doi:10.1530/EJE-09-0044. ISSN 1479-683X. PMID 19411300. 
  15. ↑ Macchia, Donatella et al. “President John F Kennedy's medical history: coeliac disease and autoimmune polyglandular syndrome type 2.” Postgraduate medical journal vol. 96,1139 (2020): 543-549. doi:10.1136/postgradmedj-2020-137722
  16. ↑ Mandel, Lee R. (2009). "Endocrine and Autoimmune Aspects of the Health History of John F. Kennedy". Annals of Internal Medicine 151 (5): 350–354. doi:10.7326/0003-4819-151-5-200909010-00011. PMID 19721023. 

Further reading

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