Abstract
Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis–ectodermal dystrophy/dysplasia (APECED), autoimmune polyglandular syndrome type 1, Whitaker syndrome, or candidiasis-hypoparathyroidism–Addison's disease syndrome, is a subtype of autoimmune polyendocrine syndrome (autoimmune polyglandular syndrome) in which multiple endocrine glands dysfunction as a result of autoimmunity. It is a genetic disorder inherited in autosomal recessive fashion due to a defect in the "AIRE" gene (autoimmune regulator), which is located on chromosome 21 and normally confers immune tolerance.
Signs and symptoms
Autoimmune polyendocrine syndrome type 1 symptoms and signs include the following:
- Hypoparathyroidism
- Hypogonadism
- Vitiligo
- Alopecia
- Malabsorption
- Anemia
- Cataract
- Adrenal hyperplasia
Genetics
Autoimmune polyendocrine syndrome type 1 is a condition caused in an autosomal recessive manner. Furthermore, it is due to a defect in AIRE gene (which helps to make a protein that is called the autoimmune regulator) mapped to 21q22.3 chromosome location, hence chromosome 21.
Pathophysiology
In autoimmune polyendocrine syndrome type 1 mechanism one finds that the maintenance of "immunological tolerance" plays a role. Furthermore, upon looking at the AIRE gene, one finds at least 90 mutations in the gene, in those affected with this condition.
Autoimmune polyendocrine syndrome type 1 mechanism also indicates that affected individuals autoantibodies have considerable reactions with both interferon-omega and interferon alpha.
Diagnosis
In terms of diagnosis for this condition, the following methods/tests are available:
- Endoscopic
- CT scan
- Serum endocrine autoantibody screen
- Histologic test
Treatment
Autoimmune polyendocrine syndrome type 1 treatment is based on the symptoms that are presented by the affected individual, additionally there is:
- Hormone replacement
- Systemic antifungal treatment
- Immunosuppressive treatment