Gastrointestinal Manifestations of Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: A Mentored Review.

BACKGROUND

Hypermobile Ehlers-Danlos Syndrome (hEDS) is a connective tissue disorder that is often diagnosed after diagnostic delays due to reliance on heightened clinical suspicion. Hypermobility spectrum disorders (HSD) bridge the gap between asymptomatic joint hypermobility and hEDS. Due to overlapping features and evolving diagnostic criteria, these entities are often discussed collectively as hEDS/HSD. Patients commonly present with gastrointestinal (GI) symptoms, prompting referral for specialized care.

OBJECTIVES

This review summarizes the diagnostic criteria, epidemiology, and GI manifestations of hEDS/HSD to aid gastroenterologists in recognizing common presentations and facilitating earlier diagnosis and appropriate management.

METHODS

We conducted a narrative review of the GI manifestations of hEDS/HSD, including associations with disorders of gut-brain interaction (DGBIs), organic GI disease, structural abnormalities, motility disorders, postural orthostatic tachycardia syndrome (POTS), and mast cell activation syndrome (MCAS).

RESULTS

The strongest GI association in hEDS/HSD is with DGBIs. Evidence suggests possible associations with organic conditions, such as celiac disease and eosinophilic esophagitis, as well as structural GI abnormalities and dysmotility. In addition, hEDS/HSD is closely linked with POTS and MCAS, which may share pathophysiologic mechanisms and have synergistic effects on symptoms.

CONCLUSION

Gastroenterologists should maintain a high index of suspicion for hEDS/HSD, which can be readily screened for using the Beighton score. Earlier diagnosis may be therapeutic by reducing uncertainty related to multisystem symptoms. A multidisciplinary approach incorporating mental health, nutrition, and pain management may be required to optimize patient outcomes.