Autoimmune polyendocrine syndromes (APSs), also called polyglandular autoimmune syndromes (PGASs)[3] or polyendocrine autoimmune syndromes (PASs), are a heterogeneous group[4] 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.[2][5][6]
Autoimmune polyendocrine syndrome | |
---|---|
Other names | Autoimmune polyglandular syndromes (APSs) |
The autoimmune regulator protein (from the AIRE gene, which causes autoimmune polyendocrine syndrome type 1 when non-functional) | |
Specialty | Endocrinology |
Types | APS type1, APS type 2, IPEX syndrome |
Causes | FOXP3 gene is involved in the mechanism [1] |
Diagnostic method | Endoscopic, CT scan[2] |
Treatment | Depends on type |
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.[11][1]
Diagnosis for type 1 of this condition for example, sees that the following methods/tests are available:[2]
For this condition, differential diagnosis sees that the following should be considered:[12]
Immunosuppressive therapy may be used in type I of this condition.[13] Ketoconazole can also be used for type I under certain conditions.[2]
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 [medical citation needed]
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