ESPE Abstracts

Background: The decreased immune tolerance caused by mutations of the autoimmune regulatory gene (AIRE) lead to a spectrum of variable organ specific autoimmune disorders known as autoimmune polyglandular syndrome type 1 (APS-1). The rarity of the syndrome and the heterogenous clinical manifestations at the onset of the disease may delay the diagnosis. Only when two major components of the triad chronic mucocutaneous candidiasis – hypoparathyroidism – Addison disease (AD) are present, the diagnosis is usually made.

Case report: We present the history of an eight year old boy with moderate mental retardation who was diagnosed with APS-1 two years after the onset of the first manifestations of the autoimmune disorder. At the age of 5 he was investigated for alopecia totalis that was followed by Lyme disease from a few months before, according to his past medical history. It is important to highlight that he also presented nail dystrophy at that time. Because of the noncompliance of his parents, we lost track of our patient until approximately 2 years later, when he presented at the emergency room for abdominal pain, nausea and vomiting, diarrhea, fatigue, muscle weakness and an altered mental status. After intravenous saline, potassium and glucose infusion, his seric sodium dropped at 110 mEq/l and malignant hyperpotassemia was associated; therefore adrenal insufficiency was suspected and the diagnosis of AD was confirmed after adequate glucocorticoid and mineralocorticoid replacement therapy. Furthermore, the clinical diagnosis of APS-1 was made 5 months later, based on the clinical assessment of an oral candidiasis associated with the previous diagnosed conditions: AD, alopecia and the nail dystrophy.

Discussions: Although alopecia is a frequent feature of APS-1, its emergence during childhood is uncommon, as it typically appears around the age of 40. Lyme disease may have influenced the disease onset, considering the fact that infections can trigger autoimmune diseases. We found literature data drawing a connection between the antigenic stimulus provided by Borrelia infections and the setting of alopecia. Another particular feature is that AD was the first diagnosed disease as a major component of the APS-1, while studies report that it is the least prevalent and the last to occur. A classical presentation of the syndrome would have made the life threatening adrenal crisis easier to diagnose.

Key words: autoimmune polyglandular syndrome type 1, alopecia totalis, Lyme disease, Addison disease