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]
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]
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]
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]
^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
