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

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.

• Publication year

  2024

• Venue

  Dermatology

• Publication date

  2024-12-10

• Fields of study

  Medicine

• Identifiers
  DOI 10.1159/000542026PMID 39657610
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  2020cited by this paper
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  2020cited by this paper
• Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients.

  2019cited by this paper
• Pain and gastrointestinal dysfunction are significant associations with psychiatric disorders in patients with Ehlers–Danlos syndrome and hypermobility spectrum disorders: a retrospective study

  2019cited by this paper
• Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review

  2019cited by this paper
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  2019cited by this paper
• Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome.

  2018cited by this paper
• In reply to “Mast Cell Disorders in Ehlers–Danlos Syndrome”

  2018cited by this paper
• A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.

  2018cited by this paper
• A framework for the classification of joint hypermobility and related conditions

  2017cited by this paper
• The Ehlers–Danlos syndromes, rare types

  2017cited by this paper
• The 2017 international classification of the Ehlers–Danlos syndromes

  2017influential reference
• Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history

  2017cited by this paper
• Mast cell disorders in Ehlers–Danlos syndrome

  2017cited by this paper
• Contemporary approach to joint hypermobility and related disorders

  2017cited by this paper
• Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

  2017cited by this paper
• Chronic fatigue in Ehlers–Danlos syndrome—Hypermobile type

  2017cited by this paper
• Measurement properties of clinical assessment methods for classifying generalized joint hypermobility—A systematic review

  2017cited by this paper
• Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome

  2017cited by this paper
• Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers–Danlos syndrome or hypermobility syndrome and their siblings

  2016cited by this paper
• Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers‐danlos syndrome hypermobility type compared to other heritable connective tissue disorders

  2015cited by this paper
• Ehlers-Danlos Syndromes

  2008cited by this paper
• Ehlers‐Danlos syndrome – a historical review

  2008cited by this paper
• Are diagnostic criteria for general joint hypermobility and benign joint hypermobility syndrome based on reproducible and valid tests? A review of the literature.

  2007cited by this paper
• Epidemiology of general joint hypermobility and basis for the proposed criteria for benign joint hypermobility syndrome: review of the literature.

  2007cited by this paper
• [Ehlers-Danlos syndrome--20 years experience with diagnosis and classification at the university skin clinic of Heidelberg].

  2006cited by this paper

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

  2025cites this paper