Hypoadrenalism as the Single Presentation of Autoimmune Polyglandular Syndrome Type 1

Abstract

Type-1 autoimmune polyglandular syndrome (APS1) is a rare hereditary disease affecting nearly 600 patients worldwide. The first of its cardinal manifestations, chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HPT), or Addison’s disease (AD), presents in childhood. Additional non-classical landmarks of APS1 continue to develop as late as the fifth decade of life. Two-thirds of patients develop the full triad before 25 years of age. Only 20% of patients develop the entire triad simultaneously. Addison's disease is rarely reported as the first manifestation.According to APS1 classifications, restricted criteria for a single cardinal component, although elements of suspicion are not sufficient to diagnose APS1.This case report is peculiar as hypoadrenalism was the first and only manifestation of APS1 for nearly three decades since its diagnosis. Theoretically, exceptions from the protocol of APS1 diagnostic criteria would be recognized as acceptable for diagnosis in the future, when similar case reports of only one component of APS1 appear.

Gastrointestinal manifestations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) patient: major effect on treatment and prognosis

“…APECED is a rare disorder affecting one in every two to three million newborns ( 1 ). The diagnostic criteria include the presence of at least two of the first components including chronic mucocutaneous candidiasis, hypoparathyroidism, or adrenal insufficiency.…”

“…Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is also referred to as autoimmune polyendocrine syndrome type 1 ( 1 ). It is a rare autosomal recessive inherited syndrome caused by mutations in the autoimmune regulator (AIRE) gene ( 1 ).…”

“…Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is also referred to as autoimmune polyendocrine syndrome type 1 ( 1 ). It is a rare autosomal recessive inherited syndrome caused by mutations in the autoimmune regulator (AIRE) gene ( 1 ). The three first clinical components of this syndrome that appear in early childhood are mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency.…”

“…The three first clinical components of this syndrome that appear in early childhood are mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. In addition to these symptoms, many other components have been reported including gastrointestinal manifestations like atrophic gastritis, dermatologic conditions like alopecia and endocrine disorders like type 1 diabetes ( 1 , 2 ).…”