Autoimmune polyendocrine syndrome


Autoimmune polyendocrine syndromes, also called polyglandular autoimmune syndromes or polyendocrine autoimmune syndromes, are a heterogeneous group of rare diseases characterized by autoimmune activity against more than one endocrine organ, although non-endocrine organs can be affected. There are three types of APS, and there are a number of other diseases which involve endocrine autoimmunity.

Types

Each "type" of this condition has a different genetic cause. IPEX syndrome is inherited in males by an x-linked recessive process. The FOXP3 gene, whose cytogenetic location is Xp11.23, is involved in the mechanism of the IPEX condition.

Diagnosis

Diagnosis for type 1 of this condition for example, sees that the following methods/tests are available:
For this condition, differential diagnosis sees that the following should be considered:
Immunosuppressive therapy may be used in type I of this condition. Ketoconazole can also be used for type I under certain conditions.
The component diseases are managed as usual; the challenge is to detect the possibility of any of the syndromes and to anticipate other manifestations. For example, in a person with known type 2 autoimmune polyendocrine syndrome but no features of Addison's disease, regular screening for antibodies against 21-hydroxylase may prompt early intervention and hydrocortisone replacement to prevent characteristic crises