Design: Cross-sectional study. Primary data collected was prevalence of pelvic pain diagnosis by ICD code and prevalence of endometriosis by operative report, pathology, or patient report. Secondary data were any other chronic pain diagnoses, and the presence of a gynecologic visit during the study period.

Setting: Single tertiary academic medical center from 2016-2023

Patients or Participants: 1908 female patients with a diagnosis of Marfan or Ehlers Danlos syndromes.

Interventions: N/A

Measurements and Main Results: 1,568 patients (82.2%) had a diagnosis of Ehlers Danlos and 340 (17.8%) had a diagnosis of Marfan syndrome. 847 patients (43.4%; 95% CI 42.2-46.7%) had one or more chronic pain diagnoses. 178 patients (9.3%; 95% CI 8.1-10.7%) had a specific diagnosis of pelvic pain and 57 patients (3.0%; 95% CI 2.3-3.9%) had a confirmed diagnosis of endometriosis. Only 424 patients (22.2%, 95% CI 20.4-24.2%) had a documented visit with an OBGYN during the study period, and of that cohort, the prevalence of pelvic pain was 30.7% (95% CI 26.3-35.3%) and the prevalence of endometriosis was 11.2% (95% CI 8.4-14.6%).

Conclusion: Patients with hereditary connective tissue disorders have a high prevalence of chronic pain disorders, including chronic pelvic pain. Rates of endometriosis appear similar to those in the general population, but presentation to gynecologic care was limited in our population. It is possible that endometriosis may then be under-diagnosed given the high comorbidity of other chronic pain in patients with hereditary connective tissue disorders. There is an opportunity for gynecology to better assist in diagnosis and treatment of this population.