Ehlers-Danlos Syndromes and Related Disorders: Diagnostic Challenges and the Need for an Interdisciplinary Patient Care in Germany.

Julia Schreml, Manuel Koch, Oliver Semler, Eckhard Schönau, Thomas Krieg, Peer Eysel, Nikolaus Kernich, Franziska Peters, Michael Huntgeburth, Esther von Stebut-Borschitz, Iliana Tantcheva-Poór

Journal: Dermatology (Basel, Switzerland) 2025;241(2):124-132

PMID: 39657610

Full Text on S. Karger AG, Basel, Switzerland View on PubMed

Abstract

INTRODUCTION

Ehlers-Danlos syndromes (EDS) represent a group of heritable connective tissue disorders characterized by skin hyperelasticity, joint hypermobility and generalized tissue fragility. Many patients remain undiagnosed years after initial symptoms and an accurate diagnosis is difficult despite all efforts. Currently, Germany lacks a patient registry and a specialized EDS centre.

METHODS

In early 2020, a dermatological-orthopaedic EDS outpatient service was established at the University Hospital of Cologne. Medical records of all patients presenting in 2020 were retrospectively analysed.

RESULTS

Forty-three adults were examined. Fifteen patients were diagnosed with EDS (different types), 13 with hypermobility spectrum disorder, and 1 with likely Loeys-Dietz syndrome (LDS) based on patient history and a suspicious variant in the gene TGFBR1. Excluding hypermobile EDS (6 patients), molecular confirmation was achieved in a total of 4 of 9 patients. The combination of symptomatic generalized hypermobility and skin manifestations was diagnostic in more than two-thirds of the EDS patients. Arterial involvement (aneurysms, dissection and rupture) and distinctive cutaneous signs (thin translucent skin with haematomas) indicated vascular EDS and LDS in altogether 3 patients.

CONCLUSION

With the present analysis, we discuss our diagnostic approach in patients with a suspected diagnosis of EDS in order to raise awareness of this rare group of genodermatoses and review recent developments in EDS nosology.

Address: Clinic and Polyclinic for Orthopaedics and Trauma Surgery, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany, [email protected].; Department of Dermatology and Venereology, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany.; Cluster of Excellence CECAD, University of Cologne, Cologne, Germany.; Institute of Human Genetics, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany.; Department of Paediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany.; Institute for Experimental Dentistry and Oral Musculoskeletal Biology and Centre for Biochemistry, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany.; Centre for Adults with Congenital Heart Defects (EMAH)/Marfan Centre, Clinic III for Internal Medicine, Heart Centre, Medical Faculty of the University of Cologne, Cologne, Germany.; Clinic for Congenital Heart Defects and Paediatric Cardiology, German Heart Centre Munich, Clinic of the Technical University of Munich, Munich, Germany.; Clinic and Polyclinic for Orthopaedics and Trauma Surgery, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany.; Department of Dermatology and Venereology, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany.

DOI: 10.1159/000542026

Link outs

Free resources

Medical:

https://medlineplus.gov/ehlersdanlossyndrome.html

Subscription / membership required

Full Text Sources:

https://doi.org/10.1159/000542026

MeSH Terms: Humans, Ehlers-Danlos Syndrome, Adult, Female, Male, Retrospective Studies, Germany, Middle Aged, Loeys-Dietz Syndrome, Young Adult, Joint Instability, Patient Care Team, Receptor, Transforming Growth Factor-beta Type I