A new collaborative research paper titled Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN) was recently published in the European Journal of Medical Genetics as part of the VASCERN Special Issue. It is co-authored by members and affiliated partners of the VASCERN Medium Sized Arteries Working Group (MSA-WG), including Dr. Michael Frank (Chair of MSA-WG), Dr. Fransiska Malfait (Co-Chair of MSA-WG), Prof. Julie De Backer (MSA-WG member), Dr. Marlies Kempers (MSA-WG member), Prof. Bart Loeys (MSA-WG member), Dr. George Tanteles (MSA-WG Affiliated Partner) and Dr. Leema Robert (MSA-WG Collaborating Expert). The MSA-WG focuses primarily on vascular Ehlers Danlos Syndrome.
Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder clinically characterized by vascular, intestinal, and uterine fragility and caused by heterozygous pathogenic variants in the COL3A1 gene. Due to the unpredictable nature of the events, it is challenging to manage patients with vEDS, and there are no specific guidelines for the care of both adults and children with vEDS.
In this study, the MSA-WG sent out 16 questions on the surveillance and monitoring of patients with vEDS to five institutions of the MSA working group and six expert centers in the Netherlands and the United Kingdom. The questionnaire aimed to collect data on the current method of surveillance and monitoring of vEDS patients used by expert centers in continental Europe and Great Britain as a first step towards developing a consensus statement.
Here is an excerpt from the results:
‘A majority of centers (7/9) agreed that besides emergent explorations for acute arterial accidents, monitoring of arterial beds in clinically silent vEDS patients was justified and two centers declared offering vascular monitoring to patients without knowing whether it is useful to improve outcomes or not. Hence, approximately two thirds of patients (n = 271; 61%) were seen regularly for arterial monitoring.’
These findings suggest that regular monitoring in vEDS patients might help in detecting previously unknown aneurysms or progression of dilatations that may require treatment.
Read the full article here
We applaud the team on this important publication that will hopefully lead to a consensus statement shortly.
Reference: Ingrid M.B.H. van de Laar, Annette F. Baas, Julie De Backer, Jan D. Blankenstein, Eelco Dulfer, Apollonia T.J.M. Helderman-van den Enden, Arjan C. Houweling, Marlies JE. Kempers, Bart Loeys, Fransiska Malfait, Leema Robert, George Tanteles and Michael Frank (2022). Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN). European Journal of Medical Genetics, Volume 65, Issue 9. Available here https://doi.org/10.1016/j.ejmg.2022.104557