Autoimmune polyendocrine syndrome type 2
Autoimmune polyendocrine syndrome type 2 | |
---|---|
Other names | Schmidt's syndrome[1] |
HLA-DQ2 one of the human leukocyte antigens genotypes responsible for this condition | |
Specialty | Endocrinology |
Symptoms | Asplenia[1] |
Risk factors | Human leukocyte antigen (HLA-DQ2, HLA-DQ8 and HLA-DR4)[2] |
Diagnostic method | Ultrasound, MRI[3] |
Treatment | Thyroid-stimulating hormone[4] |
Autoimmune polyendocrine syndrome type 2, a form of
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]
- Nausea
- Frequent urination
- Palpitations
- Weight loss
- Anorexia
- Low blood pressure
- Hypoparathyroidism
- Myalgias
- Hashimoto thyroiditis
- Graves' disease
- Anaemia
- Hypogonadism
- Diabetes mellitus
Genetics
In terms of genetics one finds that autoimmune polyendocrine syndrome type 2 has an
Should any affected organs show chronic inflammatory infiltrate (
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]
- CT scan
- MRI
- Ultrasound
Treatment
Management of autoimmune polyendocrine syndrome type 2 consists of the following:[4]
- Cyclosporin A
- Isohormonal therapy
- Glucocorticoids
- Thyroid-stimulating hormone
- Dietary guidelines(depending if diabetic/Addison d.)
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
- ^ 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.
- ^ ISBN 978-0-07-140297-2.
- ^ PMID 15270837.
- ^ a b c d "Type II Polyglandular Autoimmune Syndrome Clinical Presentation: History, Physical, Causes". emedicine.medscape.com. Retrieved 2017-04-13.
- PMID 23159534.
- PMID 12817789.
- PMID 12050123.
- ^ "OMIM Entry - % 269200 - AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2". omim.org. Retrieved 2017-04-13.
- PMID 17375512. Retrieved 13 April 2017.
- ^ Reference, Genetics Home. "What are complex or multifactorial disorders?". Genetics Home Reference. Retrieved 2017-04-19.
- ISBN 9780128011348. Retrieved 19 April 2017.
- ISBN 9781603274784. Retrieved 13 April 2017.
- PMID 12843130.
- PMID 19411300.
- ^ 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
- PMID 19721023.
Further reading
- Michels, A. W.; Eisenbarth, G. S. (2009-05-01). "Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2)". Journal of Internal Medicine. 265 (5): 530–540. S2CID 205340006.
- Wass, John A. H.; Stewart, Paul M. (2011-07-28). Oxford Textbook of Endocrinology and Diabetes. OUP Oxford. ISBN 9780199235292. Retrieved 19 April 2017.
- Renz, Harald (2012). Autoimmune Diagnostics. Walter de Gruyter. ISBN 9783110228656. Retrieved 19 April 2017.