Beyond Joint Hypermobility: Investigating Bladder Dysfunction in Hypermobile Ehlers-Danlos Syndrome

Hypermobile Ehlers-Danlos Syndrome (hEDS) is the most common subtype of Ehlers-Danlos Syndrome, a group of connective tissue disorders caused by collagen abnormalities. While musculoskeletal features of hEDS are well characterized, its impact on visceral organs, including the bladder, remains underexplored. Despite frequent patient reports of urinary symptoms, a definitive link between hEDS and bladder pathology has not been established. This study aims to characterize lower urinary tract symptoms (LUTS) and urodynamic (UDS) findings in patients with hEDS to better understand potential mechanisms underlying bladder dysfunction in this population.

A retrospective chart review was conducted on patients with hEDS who underwent video UDS at a single tertiary-care center between 2022 and 2025. Inclusion criteria included age > 18, confirmed hEDS diagnosis (2017 criteria), and completed UDS. Data were analyzed using Welch's t-test and Fisher's Exact Test.

Among 27 patients, the mean age at hEDS diagnosis was 30.9 years (range 18-49), 92.6% (n = 25) were female, and 92.6% (n = 25) were white. Common LUTS seen in these patients included frequency in 74.1% (n = 20), incontinence in 14.8% (n = 4), frequent urinary tract infections in 25.9% (n = 7), bladder pain in 33.3% (n = 9), nocturia in 48.1% (n = 13), and weak stream in 51.8% (n = 14) of patients. UDS findings revealed no evidence of detrusor overactivity, stress urinary incontinence, or abnormalities in compliance. 1 patient had incomplete emptying with a pre-study post-void residual of 500 mL. Pelvic floor dysfunction was seen in 18.5% (n = 5) with active EMG noted during emptying. Pelvic floor physical therapy was the most common intervention recommended, followed by beta-3 agonists for overactive bladder symptoms.

Our findings demonstrate that LUTS are prevalent in patients with hEDS, with evidence pointing to pelvic floor and neurologic dysfunction as key contributors rather than intrinsic bladder pathology. These results support prioritizing a pelvic floor-focused approach to evaluation and management of hEDS-related LUTS.