The American Gastroenterological Association (AGA) has released new clinical practice guidance aimed at improving the evaluation and treatment of gastrointestinal (GI) symptoms in patients with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSDs), particularly when co-occurring with mast cell activation syndrome (MCAS) or postural orthostatic tachycardia syndrome (POTS).
Key Takeaways
- Targeted Testing: The guidelines emphasize symptom-based diagnosis and targeted testing over universal screening for POTS and MCAS in hEDS/HSD patients.
- Multidisciplinary Care: A collaborative approach involving various specialists is crucial for effective management.
- Symptom-Focused Management: Treatment strategies should directly address the most prominent GI symptoms and identified functional abnormalities.
Understanding the Overlap
Clinicians are advised to be aware of the frequent associations between hEDS/HSDs and POTS/MCAS, and their shared gastrointestinal manifestations. While theoretical explanations exist, the biological mechanisms linking these conditions are still being explored.
Determining Which Patients to Test
The AGA recommends against universal screening for POTS or MCAS in all patients with hEDS/HSDs. Instead, testing should be reserved for individuals presenting with clear clinical signs and symptoms suggestive of these conditions. Gastroenterologists managing disorders of gut-brain interaction (DGBI) should routinely inquire about joint hypermobility and consider using the Beighton score as an initial screen. Positive findings may warrant further evaluation based on the 2017 hEDS criteria or referral to a specialist.
For suspected POTS, the guidelines suggest using postural vital signs (e.g., a significant heart rate increase upon standing) and considering autonomic testing if orthostatic symptoms persist despite lifestyle adjustments. MCAS evaluation is recommended only when patients report multisystemic, episodic symptoms indicative of a systemic mast cell process, rather than isolated GI issues. Baseline and post-flare serum tryptase levels can aid in diagnosis, with referral to an allergy specialist advised if confirmed.
Practical Diagnostic Steps
The diagnostic approach for GI symptoms in hEDS/HSD patients with comorbid POTS/MCAS should mirror that for DGBI in the general population, utilizing a positive symptom-based strategy and limited, noninvasive testing. Early serologic testing for celiac disease is suggested for patients with diverse GI complaints. Given the high prevalence of pelvic floor dysfunction in hEDS/HSD patients with lower GI issues, diagnostic tests like anorectal manometry or defecography are recommended for functional defecation disorders. For those with upper GI symptoms and comorbid POTS, timely assessment of gastric motor function may be beneficial.
Management That Targets Symptoms
Medical management should focus on alleviating the most prominent GI symptoms and addressing any abnormal GI function test results. For nausea and vomiting, antiemetics and prokinetics are suggested. Abdominal pain can be managed with acid suppression, antispasmodics, and neuromodulators; opioid use for chronic abdominal pain is discouraged.
Constipation may be treated with osmotic/stimulant laxatives or secretagogues, while diarrhea can be managed with medications like loperamide or eluxadoline. Early referral for brain-gut behavioral therapies is also recommended for stress-related symptoms.
Addressing POTS, MCAS, & Nutrition
Treatment for POTS may involve increased fluid and salt intake, exercise, and compression garments, with pharmacological options considered for non-responders. For MCAS, patients are advised to avoid common triggers, and histamine receptor antagonists or mast cell stabilizers may be helpful.
Nutritional support, including specialized diets like a gastroparesis diet or various elimination diets, can be considered. Early involvement of dietitians is crucial to address potential undernutrition and dehydration.
The Bottom Line
Gastroenterology providers need to understand the complexities of hEDS/HSDs, POTS, and MCAS to offer informed care, guide patients away from unreliable information, and foster therapeutic relationships. Further research is needed to elucidate the biological mechanisms, develop new diagnostic tools, and identify novel treatments to improve long-term outcomes for these patients.
Sources
- AGA Issues Guidance on GI Symptoms in Hypermobile EDS With MCAS or POTS, Physician’s Weekly.
