AGA’s new clinical practice update provides the latest guidance on recognizing and managing GI symptoms in patients with hypermobile Ehlers-Danlos syndrome. While robust data to support evidence-based recommendations remains limited, this update offers practical advice to help clinicians make informed decisions when treating patients with this complex syndrome.
Hypermobile Ehlers-Danlos syndrome is a heritable connective tissue disorder marked by joint hypermobility, musculoskeletal symptoms, and tissue fragility. It is the most common Ehlers-Danlos syndrome subtype, representing 80-90% of cases. Emerging evidence suggests a link between hypermobile Ehlers-Danlos syndrome and conditions like hypermobility spectrum disorder, postural orthostatic tachycardia syndrome, and mast cell activation syndrome — all of which can present with overlapping GI symptoms.
Watch as Drs. Lucinda Harris and Andrea Shin highlight best practices for identifying and treating GI symptoms for patients with hypermobile Ehlers-Danlos syndrome.
Best practice advice statements
1. Clinicians should be aware of the observed associations between hypermobile Ehlers-Danlos syndrome or hypermobility spectrum disorder and postural orthostatic tachycardia syndrome and/or mast cell activation syndrome and their overlapping gastrointestinal manifestations; while theoretical explanations exist, experimental evidence of the biological mechanisms that explain relationships is limited and evolving.
2. Testing for postural orthostatic tachycardia syndrome/mast cell activation syndrome should be targeted to patients presenting with clinical manifestations of postural orthostatic tachycardia syndrome/mast cell activation syndrome, but universal testing for postural orthostatic tachycardia syndrome/mast cell activation syndrome in all patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder is not supported by the current evidence.
3. Gastroenterologists seeing patients with disorders of gut-brain interaction should inquire about joint hypermobility and strongly consider incorporating the Beighton score for assessing joint hypermobility into their practice as a screening tool; if the screen is positive, gastroenterologists may consider applying 2017 diagnostic criteria to diagnose hypermobile Ehlers-Danlos syndrome or offer appropriate referral to a specialist where resources are available.
See all 16 best practice statements in the full AGA CPU published in the July issue of Clinical Gastroenterology and Hepatology.
