Overlap between irritable bowel syndrome and hypermobile Ehlers-Danlos syndrome: An unexplored clinical phenotype?

Am J Med Genet C Semin Med Genet. 2021 Dec;187(4):561-569. doi: 10.1002/ajmg.c.31938. Epub 2021 Nov 6.


Irritable bowel syndrome (IBS) is common, but its cause remains unknown. IBS patients present with gastrointestinal (GI) symptoms such as abdominal pain with altered bowel habits; however, some patients also have non-GI symptoms including muscle and joint pains. It is thus plausible that within large IBS cohorts, subgroups exist with distinct clinical phenotypes. Yet, these subgroups have not been clearly identified or characterized. Due to lack of segmentation, treatment-focused symptomatic management is similar for all with IBS and follows indiscriminate algorithms regardless of possible differing clinical phenotype. This universal approach to IBS management may account for the reported lack of efficacy of treatment. One emerging subgroup receiving increasing attention is that with overlap IBS and the underlying heritable connective tissue disorder, hypermobile Ehlers-Danlos syndrome (hEDS). Current evidence suggests that up to 62% of patients with hEDS suffer from IBS. However, despite recognition of the presence of IBS in hEDS, this overlap IBS/hEDS group has not been characterized and these patients are managed in a similar way to those with IBS alone. Future studies are required to characterize and deep phenotype in this overlap IBS/hEDS group.

Keywords: HSD; IBS; hEDS; hypermobility.

Publication types

  • Review

MeSH terms

  • Connective Tissue Diseases*
  • Ehlers-Danlos Syndrome* / genetics
  • Humans
  • Irritable Bowel Syndrome* / etiology
  • Joint Instability*
  • Phenotype