| 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 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]
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Transcription
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 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
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.
- ^ a b c Greenspan, Francis S.; Gardner, David C. (2004). Basic clinical endocrinology. New York: McGraw-Hill. pp. 103. ISBN 978-0-07-140297-2.
- ^ a b 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. PMC 1809126. PMID 15270837.
- ^ a b c d "Type II Polyglandular Autoimmune Syndrome Clinical Presentation: History, Physical, Causes". emedicine.medscape.com. Archived from the original on 2017-04-14. Retrieved 2017-04-13.
- ^ Kahaly, George J. (2012-12-01). "Polyglandular Autoimmune Syndrome Type II". La Presse Médicale. 41 (12): e663–e670. doi:10.1016/j.lpm.2012.09.011. ISSN 0755-4982. PMID 23159534.
- ^ Betterle C, Zanchetta R (April 2003). "Update on autoimmune polyendocrine syndromes (APS)". Acta Biomed. 74 (1): 9–33. PMID 12817789.
- ^ 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.
- ^ "OMIM Entry - % 269200 - AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2". omim.org. Archived from the original on 2019-12-15. Retrieved 2017-04-13.
- ^ Majeroni, BA; Patel, P (1 March 2007). "Autoimmune polyglandular syndrome, type II". American Family Physician. 75 (5): 667–70. PMID 17375512. Archived from the original on 14 April 2017. Retrieved 13 April 2017.
- ^ Reference, Genetics Home. "What are complex or multifactorial disorders?". Genetics Home Reference. Archived from the original on 2017-04-19. Retrieved 2017-04-19.
- ^ Weiss, Roy E.; Refetoff, Samuel (2016). Genetic Diagnosis of Endocrine Disorders. Academic Press. p. 367. ISBN 9780128011348. Archived from the original on 14 January 2023. Retrieved 19 April 2017.
- ^ Eisenbarth, George S. (2011). Immunoendocrinology: Scientific and Clinical Aspects. Springer Science & Business Media. p. 143. ISBN 9781603274784. Retrieved 13 April 2017.
- ^ Kahaly, George J.; Dittmar, Manuela (2003-07-01). "Polyglandular Autoimmune Syndromes: Immunogenetics and Long-Term Follow-Up". The Journal of Clinical Endocrinology & Metabolism. 88 (7): 2983–2992. doi:10.1210/jc.2002-021845. ISSN 0021-972X. PMID 12843130.
- ^ Kahaly, George J. (2009-07-01). "Polyglandular autoimmune syndromes". European Journal of Endocrinology. 161 (1): 11–20. doi:10.1530/EJE-09-0044. ISSN 1479-683X. 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
- ^ 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
- 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. doi:10.1111/j.1365-2796.2009.02091.x. ISSN 1365-2796. PMID 19382992. 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.
External links
This page was last edited on 28 April 2024, at 17:27