What is APS-1?

APS-1 (also called APECED - Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy) is a rare genetic syndrome causing autoimmune destruction of multiple endocrine glands. The classic triad is chronic mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease.

Classic Triad (Need 2 of 3 for Diagnosis):

• 1. Chronic Mucocutaneous Candidiasis (75-100%): Recurrent yeast infections of mouth, nails, skin; usually first manifestation in childhood
• 2. Hypoparathyroidism (70-90%): Low calcium, high phosphorus, low PTH; onset childhood/adolescence
• 3. Addison's Disease (60-100%): Adrenal insufficiency; onset adolescence/young adulthood

Other Autoimmune Features:

• Primary Hypogonadism (45-60%)
• Hypothyroidism (10-15%)
• Type 1 Diabetes (12-20%)
• Pernicious Anemia
• Autoimmune Hepatitis
• Vitiligo, Alopecia
• Enamel Hypoplasia
• Malabsorption

Genetics:

• AIRE Gene Mutation: Autosomal recessive
• Onset: Childhood (usually before age 10)
• Progressive: Additional manifestations appear over time

Diagnosis & Management:

• Clinical Diagnosis: Classic triad (need 2 of 3)
• Genetic Testing: AIRE mutation
• Autoantibody Testing: Anti-interferon antibodies (highly specific)
• Lifelong Surveillance: Monitor for new endocrine deficiencies
• Hormone Replacement: For each deficiency (hydrocortisone, calcium/vitamin D, thyroid, sex hormones)
• Antifungal Treatment: For candidiasis (fluconazole, others)