Abstract

Autoimmune polyendocrine syndrome type 2, a form of autoimmune polyendocrine syndrome also known as Schmidt's syndrome, or APS-II, is the most common form of the polyglandular failure syndromes. 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.

Symptoms and signs

Symptoms(and signs) that are consistent with this disorder are the following:

Genetics

In terms of genetics one finds that autoimmune polyendocrine syndrome type 2 has an autosomal dominant(and recessive) inheritance 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:

History

Some researchers favour splitting this syndrome into three distinct syndromes (numbering 2, 3 and 4), but evidence for these distinct combinations is not convincing.

The condition was recognized by Martin Benno Schmidt (1863 – 1949), a German pathologist, first described in 1926.