Autoimmune Polyendocrine Syndrome Type 1 (APS-1) (APECED)

Autoimmune Polyendocrine Syndrome Type 1 (APS-1) (APECED) is a rare inherited autoimmune disease in which the immune system attacks multiple parts of the body, particularly the endocrine glands. It is caused by a mutation in the AIRE gene. APECED is defined by a classic triad of: chronic mucocutaneous candidiasis (persistent yeast infections), hypoparathyroidism (low parathyroid hormone levels), and adrenal insufficiency (Addison's disease).

Recurrent thrush or fungal infections (mouth, skin, genitals); Muscle cramps or tingling (due to low calcium); Fatigue, weight loss, or low blood pressure (due to adrenal insufficiency); Dry eyes or mouth; Hair loss (alopecia) or nail abnormalities; Delayed puberty or infertility; Autoimmune hepatitis, gastritis, or enamel hypoplasia; Pernicious anemia. Symptoms typically begin in childhood or adolescence.

Caused by mutations in the AIRE gene. Inherited in an autosomal recessive pattern (both parents must carry the gene). Leads to failure of immune tolerance, causing the body to attack its own tissues.

Clinical criteria: presence of at least 2 of the 3 classic features; Genetic testing to confirm AIRE gene mutation; Blood tests for hormone levels, calcium, autoantibodies; Screening for other autoimmune damage (thyroid, liver, pancreas).

Antifungal medications for candidiasis; Hormone replacement therapy: Calcium and vitamin D for hypoparathyroidism, Corticosteroids and mineralocorticoids for Addison's disease, Thyroid hormone, insulin, or sex hormones if needed; Immunosuppressants in cases of severe autoimmune damage; Lifelong monitoring.

Requires lifelong treatment and monitoring. With early diagnosis and proper management, most people can live long, productive lives. Severe complications (like adrenal crisis or organ failure) can occur without treatment.

Very rare: approximately 1 in 90,000-200,000 people. More common in Finnish, Sardinian, and Iranian Jewish populations due to founder mutations. Usually presents in childhood or adolescence.