Polyneuropathy and Gastritis in Autoimmune Polyendocrine Syndrome Type 1 in a Young Adult: Uncommon Presentation of a Rare Disease

Abstract

utoimmune Polyendocrine Syndrome type1 (APS-1), sometimes called, autoimmune polyglandular syndrome type 1, and autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED), is a rare recessive disorder with diverse features that occurs due to mutations in the autoimmune regulator (AIRE) gene inducing autoimmunity. This report summarizes the diagnosis of APS 1 in a 17-year-old young man presenting with vomiting, diarrhea, and limb weakness. Investigation reveals mixed features of endocrinopathies including hypoparathyroidism, hypothyroidism, adrenal insufficiency, and hypogonadism. Although autoimmune keratitis, hepatitis, pancreatitis, pneumonitis, and nephritis are common systemic affection of this condition, the reported case presents with severe sensory-motor polyneuropathy and pangastritis. He carries a single heterozygous copy of the missense variant (NM_000383.3 c.841G>A chr21:45709913 p.Ala281Thr) in exon 7 of the AIRE.