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

doi:10.1186/s13023-025-03937-4

. 2025 Aug 16;20(1):436.

doi: 10.1186/s13023-025-03937-4.

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

Jonas Rauterberg^#¹, Marie Hock^#², Nikolaus Kernich³, Arim Shukri⁴, Henning Klapproth², Vanessa Löw⁵, Michaela Henning⁶, Iliana Tantcheva-Poór²

Affiliations

¹ Department of Dermatology and Venereology, Faculty of Medicine and University Hospital, University of Cologne, Kerpener Str. 62, 50937, Cologne, Germany. Jonas.rauterberg@uk-koeln.de.
² Department of Dermatology and Venereology, Faculty of Medicine and University Hospital, University of Cologne, Kerpener Str. 62, 50937, Cologne, Germany.
³ Department of Orthopedic and Trauma Surgery, Faculty of Medicine, University Hospital of Cologne, University of Cologne, Cologne, Germany.
⁴ Institute of Health and Economics and Clinical Epidemiology, University of Cologne, Cologne, Germany.
⁵ Pain Center, Department of Anesthesiology and Intensive Care Medicine, University of Cologne, Cologne, Germany.
⁶ Department of Psychosomatics and Psychotherapy, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany.

^# Contributed equally.

PMID: 40819036
PMCID: PMC12358066
DOI: 10.1186/s13023-025-03937-4

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

Jonas Rauterberg et al. Orphanet J Rare Dis. 2025.

. 2025 Aug 16;20(1):436.

doi: 10.1186/s13023-025-03937-4.

Authors

Jonas Rauterberg^#¹, Marie Hock^#², Nikolaus Kernich³, Arim Shukri⁴, Henning Klapproth², Vanessa Löw⁵, Michaela Henning⁶, Iliana Tantcheva-Poór²

Affiliations

¹ Department of Dermatology and Venereology, Faculty of Medicine and University Hospital, University of Cologne, Kerpener Str. 62, 50937, Cologne, Germany. Jonas.rauterberg@uk-koeln.de.
² Department of Dermatology and Venereology, Faculty of Medicine and University Hospital, University of Cologne, Kerpener Str. 62, 50937, Cologne, Germany.
³ Department of Orthopedic and Trauma Surgery, Faculty of Medicine, University Hospital of Cologne, University of Cologne, Cologne, Germany.
⁴ Institute of Health and Economics and Clinical Epidemiology, University of Cologne, Cologne, Germany.
⁵ Pain Center, Department of Anesthesiology and Intensive Care Medicine, University of Cologne, Cologne, Germany.
⁶ Department of Psychosomatics and Psychotherapy, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany.

^# Contributed equally.

PMID: 40819036
PMCID: PMC12358066
DOI: 10.1186/s13023-025-03937-4

Abstract

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.

Keywords: Burden of disease; Diagnostic odyssey; Ehlers-danlos syndromes; Generalized hypermobility; Genodermatoses; Health care supply; Hereditary connective skin disorders; Hypermobility spectrum disorder; Rare diseases.

PubMed Disclaimer

Conflict of interest statement

Declarations. Ethics approval and consent to participate: Reviewed and approved by the Ethics Committee of the University Hospital of Cologne, Germany (DRKS00024554). Consent for publication: The patients in this manuscript have given written informed consent to the publication of their case details. Competing interests: None declared.

References

1. Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8–26. - PubMed
1. Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH. The Ehlers–Danlos syndromes. Nat Rev Dis Primer. 2020;6(1):64. - PubMed
1. Chernogubow AN. Uber einen fall von cutis Laxa. Jahresber Ges Med 27. 1892;562.
1. Parapia LA, Jackson C. Ehlers-Danlos syndrome– a historical review. Br J Haematol. 2008;141(1):32–5. - PubMed
1. Doolan BJ, Lavallee M, Hausser I, Pope FM, Seneviratne SL, Winship IM, et al. Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review. J Am Acad Dermatol. 2023;89(3):551–9. - PubMed

LinkOut - more resources

Full Text Sources
- BioMed Central

[1] Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8–26. - PubMed

[2] Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8–26. - PubMed

[3] Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH. The Ehlers–Danlos syndromes. Nat Rev Dis Primer. 2020;6(1):64. - PubMed

[4] Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH. The Ehlers–Danlos syndromes. Nat Rev Dis Primer. 2020;6(1):64. - PubMed

[5] Chernogubow AN. Uber einen fall von cutis Laxa. Jahresber Ges Med 27. 1892;562.

[6] Chernogubow AN. Uber einen fall von cutis Laxa. Jahresber Ges Med 27. 1892;562.

[7] Parapia LA, Jackson C. Ehlers-Danlos syndrome– a historical review. Br J Haematol. 2008;141(1):32–5. - PubMed

[8] Parapia LA, Jackson C. Ehlers-Danlos syndrome– a historical review. Br J Haematol. 2008;141(1):32–5. - PubMed

[9] Doolan BJ, Lavallee M, Hausser I, Pope FM, Seneviratne SL, Winship IM, et al. Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review. J Am Acad Dermatol. 2023;89(3):551–9. - PubMed

[10] Doolan BJ, Lavallee M, Hausser I, Pope FM, Seneviratne SL, Winship IM, et al. Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review. J Am Acad Dermatol. 2023;89(3):551–9. - PubMed

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

Similar articles

References

LinkOut - more resources

Full Text Sources