POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE I

Course overview

AUTOIMMUNE POLYGLANDULAR SYNDROME TYPE 1 (APS-1), ALSO KNOWN AS AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY (APECED), IS CHARACTERIZED BY THE TRIAD OF HYPOPARATHYROIDISM, ADDISON DISEASE, AND CHRONIC MUCOCUTANEOUS CANDIDIASIS. APS-1 IS DUE TO MUTATIONS IN THE AUTOIMMUNE REGULATORY GENE (AIRE); SO FAR ABOUT 60 DIFFERENT MUTATIONS HAVE BEEN DESCRIBED. THIS IS A POTENTIALLY UNDERDIAGNOSED CONDITION DUE TO THE RARITY AND ENORMOUS VARIABILITY IN ITS PRESENTATION. BESIDES THE ABOVE TRIAD, A HOST OF OTHER AUTOIMMUNE DISEASES MAY PRESENT WITH APS-1. THIS ACTIVITY DESCRIBES THE PATHOPHYSIOLOGY, PRESENTATION, AND DIAGNOSIS OF AUTOIMMUNE POLYGLANDULAR SYNDROME TYPE 1 AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN ITS MANAGEMENT.