Ehlers-Danlos Syndrome and Hypermobility Disorders: new clinical practice updates

The American Gastroenterological Association (AGA) has released a Clinical Practice Update addressing the gastrointestinal (GI) manifestations and autonomic or immune dysfunction in patients with Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorders (HSDs). This expert review brings attention to an often underrecognized population struggling with chronic GI and pelvic floor symptoms that significantly impair quality of life. Clinicians across specialties are urged to adopt a multidisciplinary, symptom-focused approach grounded in existing diagnostic and therapeutic principles. 

Hypermobile Ehlers-Danlos Syndrome is a connective tissue disorder characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Unlike other EDS subtypes, hEDS lacks a definitive molecular marker, making clinical evaluation crucial. One of the most frequent and distressing complications in hEDS is gastrointestinal dysfunction, which spans the spectrum from upper GI symptoms such as dyspepsia or gastroesophageal reflux to lower GI complaints including constipation, bloating, and abdominal pain. 

Retrospective studies have reported a high prevalence of abnormal gastrointestinal transit and structural or functional pelvic floor abnormalities in patients with EDS. Delayed gastric emptying, slow colonic transit, and overlapping functional bowel disorders like irritable bowel syndrome (IBS) are commonly reported. These findings underscore the need for personalized evaluation strategies that go beyond symptom-based classification. 

Pelvic floor dysfunction is particularly prevalent among patients with hEDS/HSDs. Symptoms such as incomplete evacuation, excessive straining, and feelings of blockage during defecation are frequent. In fact, functional defecation disorders are so common in this population that clinicians should maintain a high index of suspicion. 

Diagnostic testing for functional defecation disorders—such as anorectal manometry, balloon expulsion testing, or defecography—should be considered in patients with hEDS/HSDs and persistent lower GI symptoms. These tools help identify underlying conditions such as dyssynergic defecation, rectal hyposensitivity, or anatomical abnormalities like rectocele or enterocele. 

One particularly notable finding in hEDS patients is rectal hyposensitivity, which may impair the normal urge to defecate, contributing to chronic constipation and incomplete evacuation. Recognizing these sensory deficits is crucial in guiding appropriate treatment strategies. 

While hEDS/HSDs may require additional attention due to systemic and often complex presentations, the treatment of GI symptoms—especially pelvic floor dysfunction—should generally follow established clinical guidelines for anorectal disorders. 

Pelvic floor physical therapy (PFPT) is a cornerstone of conservative management and should be considered a first-line treatment option for patients with hEDS/HSDs experiencing pelvic floor symptoms. PFPT can improve coordination of the pelvic floor muscles, enhance rectal sensation, and help address dyssynergic defecation. Therapists may use rehabilitative ultrasound, rectal balloon retraining for hyposensitivity, manual techniques, and behavioral strategies to teach patients how to effectively coordinate the pelvic floor and surrounding muscles—skills that are often impaired in hEDS due to connective tissue laxity and proprioceptive dysfunction. 

In addition to PFPT, dietary interventions and bowel retraining programs are also fundamental components of care. However, due to the connective tissue fragility and heightened visceral sensitivity common in hEDS, clinicians should individualize therapy intensity and frequency to ensure effectiveness while avoiding exacerbation of symptoms. 

Importantly, invasive surgical options should be approached with caution. Given the high risk of poor wound healing, prolapse, or complications from mesh implants, surgery should be reserved for carefully selected cases and only after conservative therapy has been maximized. 

Another layer of complexity in hEDS/HSDs is the frequent presence of autonomic and immune dysregulation. Conditions such as postural orthostatic tachycardia syndrome (POTS), mast cell activation syndrome (MCAS), and small fiber neuropathy are commonly reported and can exacerbate GI symptoms. 

• POTS can contribute to nausea, early satiety, and bloating due to splanchnic blood pooling and altered GI motility. 

• MCAS may present with food intolerances, diarrhea, and abdominal cramping, often leading to dietary restrictions and nutritional concerns. 

• Neuropathic GI dysmotility, resulting from small fiber neuropathy, can present with severe constipation or pseudo-obstruction, requiring specialized neurologic and motility evaluation. 

Managing these overlapping conditions often requires multidisciplinary collaboration with cardiologists, allergists/immunologists, and neurologists.  

Given the often multisystemic nature of hEDS/HSDs, patients may face delays in diagnosis or have symptoms misattributed to psychological causes. The AGA’s Clinical Practice Update offers a clear, structured framework for evaluating and managing GI and pelvic floor symptoms in this complex patient group. Key recommendations include: 

• Maintain high clinical suspicion for functional GI and pelvic floor disorders in patients with hEDS/HSDs, especially when standard therapies fail. 

• Utilize objective diagnostic tools such as anorectal manometry, balloon expulsion testing, and defecography to assess unexplained lower GI symptoms. 

• Recognize and treat rectal hyposensitivity and associated sensory-motor dysfunctions as part of comprehensive pelvic floor management. 

• Incorporate pelvic floor physical therapy early in the treatment plan, alongside bowel retraining and diet optimization. 

• Adapt standard treatment protocols to accommodate the unique tissue fragility and autonomic sensitivities of this population. 

• Coordinate care across specialties when symptoms suggest autonomic or immune involvement. 

The AGA’s Clinical Practice Update on GI manifestations in hEDS/HSDs is a step toward improving care for a population that has long been overlooked. By emphasizing structured evaluation—especially for pelvic floor disorders—and highlighting the importance of interventions like pelvic floor physical therapy, the update provides a comprehensive, evidence-informed approach to managing these complex patients. 

As research continues to advance, future guidelines will likely incorporate emerging data on genetic markers, novel therapeutics, and long-term outcomes. For now, a thoughtful, multidisciplinary, and personalized care strategy—centered on patient needs and functional goals—remains the best path forward. 

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Disclaimer: This blog is here for your help. It is the opinion of a Licensed Physical Therapist. If you experience the symptoms addressed you should seek the help of a medical professional who can diagnose and develop a treatment plan that is individualized for you.