Autoimmune polyendocrine syndrome
Medical condition
From Wikipedia, the free encyclopedia
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 |
Types
- Autoimmune polyendocrine syndrome type 1,[2] an autosomal recessive syndrome due to mutation of the AIRE gene resulting in hypoparathyroidism, adrenal insufficiency, hypogonadism, vitiligo, candidiasis and others.
- Autoimmune polyendocrine syndrome type 2,[7] an autosomal dominant syndrome due to multifactorial gene involvement resulting in adrenal insufficiency plus hypothyroidism and/or type 1 diabetes.
- Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX syndrome) is X-linked recessive due to mutation of the FOXP3 gene on the X chromosome. Most patients develop diabetes and diarrhea and many die due to autoimmune activity against many organs. Boys are affected, while girls are carriers and might experience mild disease.[2][8][9][10]
Cause
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
Diagnosis for type 1 of this condition for example, sees that the following methods/tests are available:[2]
- Endoscopic
- CT scan
- Histologic test
Differential diagnosis
For this condition, differential diagnosis sees that the following should be considered:[12]
- CD25 deficiency
- STAT5B deficiency
- Severe combined immunodeficiency
- X linked thrombocytopenia
Management
Immunosuppressive therapy may be used in type I of this condition.[13]
Ketoconazole can also be used for type I under certain conditions.[2]
