Health care supply in patients with Ehlers-Danlos syndromes and generalized hypermobility spectrum disorder: a German perspective.

Background: Diagnosing Ehlers-Danlos syndromes (EDS) and EDS-related "hypermobility spectrum disorder" (HSD) is challenging and cutaneous manifestations often serve as indicators of these rare connective tissue disorders. Only limited data exist on the healthcare of EDS/HSD in Germany as specialized services have been missing and a national register is not available.

Objectives: In 2020, a dermatologic-orthopedic EDS outpatient service was initiated at the University Hospital of Cologne, Germany. The objectives of the present survey were to examine the "medical journey" and the disease burden of our patients.

Methods: A pseudonymized paper survey was sent to all adults who were diagnosed with hypermobile EDS (hEDS), classical EDS (cEDS), classical-like EDS (clEDS) or generalized HSD at the EDS Cologne service from December 2021 until May 2023.

Results: Of the 99 participants, 80 were diagnosed with hEDS/HSD, 16 with cEDS and 3 with clEDS. The mean time to diagnosis was 22.0 years (14.5 years for cEDS/clEDS vs. 23.0 years for hEDS/HSD). 24.2% of the participants had a recognized degree of disability of ≥ 50, the average sick leave in the last 3 months was 4.6 days for cEDS/clEDS and 21.3 days for hEDS/HSD. 44.9% of the hEDS/HSD patients reported on having at least four comorbidities compared to 21.1% in the cEDS/clEDS group (p = 0.023). At least 15 medical specialties were involved in the diagnostics and treatment of participants with multiple therapeutic modalities.

Conclusions: This is the first study providing an insight on the healthcare supply of EDS/HSD patients in Germany. Participants in our survey had a much longer "diagnostic journey" than the one in previous studies and suffered from high morbidity despite high healthcare utilization. Our results point to the urgent necessity of a better coordinated, multidisciplinary care for patients with these complex genodermatoses including innovative political structures, further research and international networking.