Autoimmune polyendocrine syndrome type 2 explained

See also: Autoimmune polyendocrine syndrome type 1.

Autoimmune polyendocrine syndrome type 2
Synonyms:Schmidt's syndrome[1]
Symptoms:Asplenia
Risks:Human leukocyte antigen (HLA-DQ2, HLA-DQ8 and HLA-DR4)
Diagnosis:Ultrasound, MRI
Treatment:Thyroid-stimulating hormone

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.[3] 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.

Signs and symptoms

Signs and symptoms that are consistent in an individual affected with autoimmune polyendocrine syndrome type 2 are the following:[1] [4] [5]

Genetics

In terms of genetics one finds that autoimmune polyendocrine syndrome type 2 has an autosomal dominant pattern of inheritance, with an incomplete penetrance.[6] [7] Furthermore, the human leukocyte antigen involved in this condition are HLA-DQ2(DR3 (DQB*0201)) and HLA-DQ8(DR4 (DQB1*0302)),[8] genetically speaking, which indicates this is a multifactorial disorder, as well.[1] [9]

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

Treatment

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

See also

Further reading

External links

Notes and References

  1. Web site: Autoimmune polyglandular syndrome type 2 Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . dead . https://web.archive.org/web/20170413071742/https://rarediseases.info.nih.gov/diseases/7611/index . 2017-04-13 . 2017-04-12 . rarediseases.info.nih.gov . en.
  2. Book: Greenspan, Francis S. . Basic clinical endocrinology . Gardner, David C. . McGraw-Hill . 2004 . 978-0-07-140297-2 . New York . 103 . registration.
  3. Kahaly . George J. . 2012-12-01 . Polyglandular Autoimmune Syndrome Type II . La Presse Médicale . en . 41 . 12 . e663–e670 . 10.1016/j.lpm.2012.09.011 . 0755-4982 . 23159534.
  4. Web site: Type II Polyglandular Autoimmune Syndrome Clinical Presentation: History, Physical, Causes . live . https://web.archive.org/web/20170414082432/http://emedicine.medscape.com/article/124287-clinical#showall . 2017-04-14 . 2017-04-13 . emedicine.medscape.com . en.
  5. Betterle C, Zanchetta R . April 2003 . Update on autoimmune polyendocrine syndromes (APS) . Acta Biomed . 74 . 1 . 9–33 . 12817789.
  6. 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 . 10.1210/edrv.23.3.0466 . 0163-769X . 12050123 . free.
  7. Web site: OMIM Entry - % 269200 - AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2 . live . https://web.archive.org/web/20191215115622/https://omim.org/entry/269200 . 2019-12-15 . 2017-04-13 . omim.org . en-us.
  8. Majeroni . BA . Patel . P . 1 March 2007 . Autoimmune polyglandular syndrome, type II. . live . American Family Physician . en . 75 . 5 . 667–70 . 17375512 . https://web.archive.org/web/20170414081810/http://www.aafp.org/afp/2007/0301/p667.html . 14 April 2017 . 13 April 2017.
  9. Web site: Reference . Genetics Home . What are complex or multifactorial disorders? . live . https://web.archive.org/web/20170419101324/https://ghr.nlm.nih.gov/primer/mutationsanddisorders/complexdisorders . 2017-04-19 . 2017-04-19 . Genetics Home Reference . en.
  10. Book: Weiss, Roy E. . Genetic Diagnosis of Endocrine Disorders . Refetoff . Samuel . 2016 . Academic Press . 9780128011348 . 367 . en . 19 April 2017 . https://web.archive.org/web/20230114134015/https://books.google.com/books?id=geScBAAAQBAJ&q=Autoimmune+polyendocrine+syndrome+type+2+diagnosis&pg=PA370 . 14 January 2023 . live.
  11. 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 . 10.1111/j.1365-2249.2004.02561.x . 0009-9104 . 1809126 . 15270837.
  12. Book: Eisenbarth, George S. . Immunoendocrinology: Scientific and Clinical Aspects . 2011 . Springer Science & Business Media . 9781603274784 . 143 . en . 13 April 2017.
  13. Kahaly . George J. . Dittmar . Manuela . 2003-07-01 . Polyglandular Autoimmune Syndromes: Immunogenetics and Long-Term Follow-Up . The Journal of Clinical Endocrinology & Metabolism . en . 88 . 7 . 2983–2992 . 10.1210/jc.2002-021845 . 0021-972X . 12843130 . free.
  14. Kahaly . George J. . 2009-07-01 . Polyglandular autoimmune syndromes . European Journal of Endocrinology . en-US . 161 . 1 . 11–20 . 10.1530/EJE-09-0044 . 1479-683X . 19411300 . free.
  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 . 10.7326/0003-4819-151-5-200909010-00011 . 19721023 . free.

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