• Source: Autoimmune polyendocrine syndrome type 2

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. PAS II is defined as the association between autoimmune Addison's disease and either autoimmune thyroid disease, type 1 diabetes, or both. 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:

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. Furthermore, the human leukocyte antigen involved in this condition are HLA-DQ2(DR3 (DQB*0201)) and HLA-DQ8(DR4 (DQB1*0302)), genetically speaking, which indicates this is a multifactorial disorder, as well.
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.




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

CT scan
MRI
Ultrasound




Treatment



Management of autoimmune polyendocrine syndrome type 2 consists of the following:

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. 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.




Society and culture


U.S. President John F. Kennedy is presumed to have suffered from Autoimmune Polyendocrine Syndrome, Type II.




See also


IPEX syndrome
Autoimmune polyendocrine syndrome




References






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


PubMed

Kata Kunci Pencarian:

• Autoimmune polyendocrine syndrome type 1
• Autoimmune polyendocrine syndrome type 2
• Autoimmune polyendocrine syndrome
• Autoimmune polyendocrine syndrome type 3
• Addison's disease
• IPEX syndrome
• List of autoimmune diseases
• List of syndromes
• Hashimoto's thyroiditis
• Pitt–Hopkins syndrome