VASCERN News
23 July 2024
Revision of Rare Vascular Tumors in the Orphanet Database
May was Ehlers-Danlos Awareness Month! Are you now familiar with this group of rare disorders?
The VASCERN Medium-Sized Arteries Working Group covers a rare subtype of this group of diseases called vascular Ehlers-Danlos Syndrome (vEDS). The ERN ReCONNET covers the other EDS subtypes. In addition to bruising and skin lucency, vEDS can manifest with serious arterial (aneurysm, dissection and rupture), digestive (bowel rupture) and uterine complications and is caused by a mutations in the COL3A1 gene. This gene encodes the components of type III collagen, a major protein found in the walls of the blood vessels and hollow organs.
Our MSA-WG had a face-to-face meeting this month in London to discuss their priorities and progress in the work packages focused on this disease, including patient pathways and clinical guidelines on vEDS.
To learn more about vEDS, read a recent review article co-authored by members of the MSA-WG, including Dr. Leema Robert (Chair), Prof Xavier Jeunemaître (Co-chair), Dr. Michael Franck and Prof Julie De Backer, entitled Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome.