Universität zu Köln

Rauterberg, Jonas ORCID: 0000-0001-9796-1235, Hock, Marie, Kernich, Nikolaus ORCID: 0000-0001-8540-5725, Shukri, Arim ORCID: 0000-0003-3709-3493, Klapproth, Henning ORCID: 0000-0003-1966-3069, Löw, Vanessa ORCID: 0000-0001-7113-3132, Henning, Michaela ORCID: 0000-0002-1031-5140 and Tantcheva-Poór, Iliana ORCID: 0000-0002-2626-9222 (2025). Health care supply in patients with Ehlers-Danlos syndromes and generalized hypermobility spectrum disorder: a German perspective. Orphanet Journal of Rare Diseases, 20 (1). pp. 1-10. Springer Nature. ISSN 1750-1172

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Abstract

[Artikel-Nr.: 436] 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.

Item Type:	Article
Creators:	Creators Email ORCID ORCID Put Code Rauterberg, Jonas UNSPECIFIED https://orcid.org/0000-0001-9796-1235 UNSPECIFIED Hock, Marie UNSPECIFIED UNSPECIFIED UNSPECIFIED Kernich, Nikolaus UNSPECIFIED https://orcid.org/0000-0001-8540-5725 UNSPECIFIED Shukri, Arim UNSPECIFIED https://orcid.org/0000-0003-3709-3493 UNSPECIFIED Klapproth, Henning UNSPECIFIED https://orcid.org/0000-0003-1966-3069 UNSPECIFIED Löw, Vanessa UNSPECIFIED https://orcid.org/0000-0001-7113-3132 UNSPECIFIED Henning, Michaela UNSPECIFIED https://orcid.org/0000-0002-1031-5140 UNSPECIFIED Tantcheva-Poór, Iliana UNSPECIFIED https://orcid.org/0000-0002-2626-9222 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-806646
Identification Number:	10.1186/s13023-025-03937-4
Journal or Publication Title:	Orphanet Journal of Rare Diseases
Volume:	20
Number:	1
Page Range:	pp. 1-10
Number of Pages:	10
Date:	16 August 2025
Publisher:	Springer Nature
ISSN:	1750-1172
Language:	English
Faculty:	Faculty of Medicine
Divisions:	Faculty of Medicine > Anästhesiologie und Operative Intensivmedizin > Klinik für Anästhesiologie und Operative Intensivmedizin Faculty of Medicine > Dermatologie > Klinik und Poliklinik für Dermatologie und Venerologie Faculty of Medicine > Gesundheitsökonomie > Institut für Gesundheitsökonomie und Klinische Epidemiologie Faculty of Medicine > Orthopädie > Klinik und Poliklinik für Orthopädie und Unfallchirurgie
Subjects:	Medical sciences Medicine
Uncontrolled Keywords:	Keywords Language Hereditary connective skin disorders ; Genodermatoses ; Ehlers-danlos syndromes ; Hypermobility spectrum disorder ; Generalized hypermobility ; Health care supply ; Diagnostic odyssey ; Rare diseases, Burden of disease English
['eprint_fieldname_oa_funders' not defined]:	Publikationsfonds UzK
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/80664