Triple A syndrome (Allgrove syndrome): improving outcomes with a multidisciplinary approach. Academic Article uri icon

Overview

abstract

  • Allgrove syndrome or triple A (3A) syndrome is a multisystem disorder which classically involves the triad of esophageal achalasia, alacrima, and adrenal insufficiency due to adrenocorticotropin hormone insensitivity. It follows an autosomal recessive pattern of inheritance and is associated with mutations in the AAAS (achalasia-addisonianism-alacrima syndrome) gene. Since its first description in 1978, the knowledge on clinical and genetic characteristics has been expanding; however, the current literature is limited to case reports and case reviews. Early recognition of the syndrome is challenging, given the rarity of the condition and high phenotypic heterogeneity even among members of kin. The coordination of care for these patients requires a multidisciplinary team of specialists, including endocrinologists, neurologists, gastroenterologists, ophthalmologists, developmental specialists, dentists, geneticists, and surgeons. In this review, we aim to summarize the current recommendations for the diagnosis, management, and follow-up of patients with 3A syndrome.

publication date

  • August 29, 2019

Identity

PubMed Central ID

  • PMC6718240

Scopus Document Identifier

  • 84875772533

Digital Object Identifier (DOI)

  • 10.1016/j.redar.2012.05.021

PubMed ID

  • 31695556

Additional Document Info

volume

  • 10