Pathologic aerophagia: a rare but important medical condition in people with intellectual disabilities

Abstract

Accessible Summary• Pathologic aerophagia is a rare but important medical condition that occur more frequently in people with intellectual disabilities.• It is characterised by repeated air swallowing resulting in progressive abdominal distension and flatulence, and sometimes it can cause serious and life-threatening complications.• Here, we present a literature on diagnosis and management of pathologic aerophagia and describe presentation of this condition in a 23-year-old male diagnosed with severe intellectual disability and autism. AbstractBackground: Pathologic aerophagia (PA) is characterised by excessive swallowing of air resulting in significant abdominal distension or belching. This is a relatively rare condition in general population but has been reported in up to 8.8% of institutionalised patients with intellectual disability. In severe cases, this can cause volvulus and ileus, and even intestinal perforation. Currently, there is limited information on this potentially life-threatening condition, particularly for people with intellectual disability. In this study, we aim to present a literature of diagnosis and management of PA and describe a case of PA in an adult with intellectual disability and autism. Methods: A literature search of electronic database was performed using specific keywords.Results: Apart from a few small controlled trials on pharmacotherapy, most of the studies were case series or uncontrolled studies. The understanding on pathophysiology is incomplete but is thought to involve a reflex-induced movement of upper oesophageal sphincter and may be associated with anxiety or stress. A comprehensive history and physical examination as well as an abdominal radiograph may be helpful in diagnosis. Medications that are helpful include antacids, anti-reflux drugs and benzodiazepines. Surgical treatment may be required in severe cases. A case of an adult patient with intellectual disability and PA is discussed to highlight the challenges in diagnosis and management.Conclusions: PA is not uncommon in people with intellectual disability and can pose challenges in the assessment and management. Further studies are necessary to ª The Official Journal of the British Institute of Learning Disabilities provide evidence-based treatment guidelines for the management of this condition particularly in patients with intellectual disability.