(028) IDENTIFYING A CORRELATION BETWEEN EHLERS DANLOS SYNDROME (HYPERMOBILITY TYPE) AND GENITOPELVIC PAIN IN WOMEN
Authors: Mitchell L , Flint Reiff M , Skovronsky G , Lorenzini S , Kopits I , Holloway J , Moss C , Krapf J , Goldstein A 
Published: June 2024

Introduction

Hypermobility Ehlers Danlos Syndrome (hEDS) is the most common subtype of The Ehlers Danlos Syndromes (EDS), a group of heritable connective tissue disorders. Signs and symptoms associated with hEDS include joint hypermobility, joint pain, back/neck pain, easy bruising, soft/velvety skin, stretchy skin, sensitive skin, allergies/hives, gastrointestinal symptoms, dizziness, dysautonomia, hernias, prolapse, and atrophic scaring. Patients with hEDS often display myofascial pain related to muscle overactivity, which may compensate for joint laxity. hEDS is strongly associated with mast cell activation syndrome (MCAS) and postural orthostatic tachycardia syndrome (POTS). Severity of the symptoms associated with hEDS falls on a spectrum. Patients who do not meet full diagnostic criteria for hEDS may still be diagnosed with hypermobile spectrum disorder (HSD). The 5-Point Hypermobility Questionnaire (5HQ) was designed to screen for HSD (1). A score of 2 or more has an 80-85% sensitivity and 80-90% specificity to detect HSD. As the molecular basis of hEDS is still unknown, the diagnosis of hEDS is made based on a positive diagnosis of HSD and additional criteria outlined in the 2017 International Classification of the EDS. Genitopelvic pain disorders (GPP) such as provoked vestibulodynia (PVD) and bladder pain syndrome (BPS) are highly associated with overactive pelvic floor muscle dysfunction (PFD) and mast cell proliferation/activation. As such, it seems likely that hEDS/HSD may play a role in GPP.

Objective

The objective of this study was to utilize the 5HQ to determine if there is a correlation between GPP and hEDS/HSD.

Methods

Adult female patients presenting to two clinics specializing in GPP between February 15th, 2023, to October 31st, 2023, prospectively completed the 5HQ. Patients presenting for complaints of a vulvar dermatoses were excluded from the analysis. If a patient screened positive on the 5HQ, a chart review was performed to obtain GPP diagnoses, including vestibulodynia (PVD), overactive pelvic floor muscle dysfunction (PFD), pudendal neuralgia (PN), bladder pain syndrome (BPS), vulvar candidiasis, and desquamative inflammatory vaginitis (DIV).

Results

Of the 234 patients who met inclusion criteria, 74 screened positive on the 5HQ (31.6%). Of the 74 patients, 73 had vestibulodynia (98.6%), 67 (90.5%) were diagnosed with PFD, 21 (28.4%) had PN, 16 had (probable) BPS (21.6.%), 13 (17.6%) had candidiasis, and 9 (12.2%) had DIV. Of the women with vestibulodynia 26 (35.1%) had allodynia confined to the posterior vestibule suggesting a PFD etiology and 47 (63.5%) had pain throughout their entire vestibule suggesting either an inflammatory or neuroproliferative etiology.

Conclusions

Nearly one-third of women with GPP screen positive for hESD/HSD. It is possible that myofascial sequelae of hEDS/HSD and MCAS may play a role in women with both GPP and hEDS/HSD. These results highlight the importance of screening women for joint hypermobility who present with GPP. Positive screening should warrant an examination and testing to rule in/out the diagnosis of hEDS and to guide appropriate referral to a specialist in this disorder. Further studies are planned to perform confirmatory diagnosis for hEDS and further explore associated medical conditions, such as MCAS, which may also contribute to forms of GPP. Reference: 1. Hakim AJ, Grahame R. 2003 Int J Clin Pract 57:163-166.

Disclosure

Any of the authors act as a consultant, employee or shareholder of an industry for: Dare bioscience, Incyte, Nuvig, AbbVie.