From the Research
Diagnostic Criteria for APECED
The diagnostic criteria for Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) are based on the presence of certain clinical features. The main components of APECED include:
- Chronic mucocutaneous candidiasis
- Hypoparathyroidism
- Primary adrenal insufficiency (Addison's disease) According to 1, the clinical diagnosis is classically based on the presence of at least two of these three main components.
Clinical Presentation
APECED is characterized by a wide range of clinical manifestations, including:
- Autoimmune endocrine and nonendocrine manifestations
- Chronic mucocutaneous candidiasis
- Hypoparathyroidism
- Addison's disease
- Alopecia areata
- Vitiligo As stated in 2, the phenotype of APECED is often complex and can vary greatly in severity and number of components, even among siblings with the same AIRE genotype.
Diagnostic Challenges
The diagnosis of APECED can be challenging due to the variability of its clinical expression and the potential for a considerable delay between the appearance of symptoms and diagnosis. As noted in 3, diagnosis is often possible by clinical diagnostic criteria, but in many cases, the early clinical picture does not bring it to mind. A novel tool, searching for autoantibodies against interferon-omega, can enable proof or exclusion of APECED with more certainty than gene analysis.
Genotype-Phenotype Correlation
Studies have shown that there is no clear correlation between AIRE gene mutations and the clinical presentation of APECED. As stated in 4 and 5, the genotype-phenotype correlation failed to reveal a relationship between detected mutations and clinical expression. This suggests that other factors may influence the development and severity of APECED.