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]
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]
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]
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]
^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