Photo Credit: Washington Post
The following is a summary of “Ehlers-Danlos syndromes and related disorders: diagnostic challenges and the need for an interdisciplinary patient care in Germany,” published in the December 2024 issue of Dermatology by Kernich et al.
Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders marked by skin hyperelasticity, joint hypermobility, and tissue fragility.
Researchers conducted a retrospective study to address the challenges of diagnosing EDS and the lack of a patient registry and specialized center in Germany.
They established a dermatological-orthopedic EDS outpatient service at the University Hospital of Cologne in early 2020. Medical records of all patients who visited in 2020 were analyzed.
The results showed that 43 adults were examined, with 15 diagnosed with EDS (various types), 13 with hypermobility spectrum disorder (HSD), and 1 with likely Loeys-Dietz syndrome (LDS) based on patient history and a suspicious TGFBR1 gene variant. Molecular confirmation was achieved in 4 of 9 non-hypermobility EDS cases, excluding 6 patients with hypermobile EDS. In over two-thirds of EDS cases, a combination of generalized hypermobility and skin manifestations was diagnostic and 3 patients with arterial involvement and distinct skin features indicated vascular EDS and LDS.
Investigators concluded the diagnostic approach for suspected EDS cases helped raise awareness of this rare group of genodermatoses and highlighted recent developments in EDS nosology.
