APECED (Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy) is a rare genetic disorder characterized by the dysfunction and damage of various organs, particularly the endocrine glands. It is an autosomal recessive disorder caused by mutations in the AIRE (Autoimmune Regulator) gene, which is responsible for the normal functioning of the immune system. APECED primarily affects individuals of Finnish and Sardinian descent, but cases have been reported in various populations.
The condition is marked by the presence of multiple autoimmune disorders, including those affecting the endocrine system such as hypoparathyroidism (inadequate production of parathyroid hormone), adrenal insufficiency (lack of adrenal gland hormones), and primary ovarian insufficiency (failure of the ovaries). Additionally, affected individuals may experience chronic candidiasis, a fungal infection caused by the overgrowth of Candida species in various parts of the body, particularly the skin, nails, and mucous membranes.
The most distinctive feature of APECED is the triad of symptoms involving mucocutaneous candidiasis, chronic hypoparathyroidism, and adrenal insufficiency. However, other autoimmune conditions affecting the skin, gastrointestinal tract, and eyes can also occur. Symptoms often manifest in childhood or adolescence, and their severity can vary widely among affected individuals.
Treatment for APECED is primarily focused on managing the various autoimmune disorders and includes hormone replacement therapy, antifungal medications, and immunosuppressive drugs. Regular monitoring and specialized care from various medical specialists are crucial to manage and improve the overall quality of life for individuals with APECED.
