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

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.

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.

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.

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.