Current understanding of Hirschsprung-associated enterocolitis: Pathogenesis, diagnosis and treatment

Abstract

Hirschsprung-associated enterocolitis (HAEC) was described in 1886 by Harald Hirschsprung and is a potentially deadly complication of Hirschsprung Disease. HAEC is classically characterized by abdominal distension, fever, and diarrhea, although there can be a variety of other associated symptoms, including colicky abdominal pain, lethargy, and the passage of blood-stained stools. HAEC occurs both pre-operatively and post-operatively, is the presenting symptom of HSCR in up to 25% of infants and varies in overall incidence from 20 to 60%. This article reviews our current understanding of HAEC pathogenesis, diagnosis, and treatment with discussion of areas of ongoing research, controversy, and future investigation.

Keywords: Dysmotility; Enterocolitis; Hirschsprung disease; Microbiome; Mucosal immunity; Treatment.

Figure 1.. Current understanding of Hirschsprung-Associated Enterocolitis pathogenesis.

Dysmotility, dysbiosis of the microbiota, altered intestinal barrier function, and impaired mucosal immune responses all appear to contribute to the pathogenesis of HAEC. ENS dysfunction can result in microbiome dysbiosis through impaired motility and stasis. When followed by impaired intestinal barrier function and an abnormal mucosal immune response, HAEC develops. Each point in this sequence is of potential interest for targeted prevention or therapy.