Autoimmune polyendocrine syndrome type 2

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See also: Autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrine syndrome type 2
Other namesSchmidt's syndrome[1]
HLA-DQ2 one of the human leukocyte antigens genotypes responsible for this condition
SpecialtyEndocrinology Edit this on Wikidata
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

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. ^ a b c d "Autoimmune polyglandular syndrome type 2 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2017-04-13. Retrieved 2017-04-12.
  2. ^
    ISBN 978-0-07-140297-2
    .
  3. ^
    PMID 15270837
    .
  4. ^ a b c d "Type II Polyglandular Autoimmune Syndrome Clinical Presentation: History, Physical, Causes". emedicine.medscape.com. Retrieved 2017-04-13.
  5. PMID 23159534
    .
  6. PMID 12817789
    .
  7. PMID 12050123
    .
  8. ^ "OMIM Entry - % 269200 - AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2". omim.org. Retrieved 2017-04-13.
  9. PMID 17375512
    . Retrieved 13 April 2017.
  10. ^ Reference, Genetics Home. "What are complex or multifactorial disorders?". Genetics Home Reference. Retrieved 2017-04-19.
  11. ISBN 9780128011348
    . Retrieved 19 April 2017.
  12. ISBN 9781603274784
    . Retrieved 13 April 2017.
  13. PMID 12843130
    .
  14. 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. PMID 19721023
    .

Further reading

External links
Scholia has a topic profile for Autoimmune polyendocrine syndrome type 2.
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