TY - JOUR
T1 - Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)
AU - van de Laar, Ingrid M. B. H.
AU - Baas, Annette F.
AU - de Backer, Julie
AU - Blankenstein, Jan D.
AU - Dulfer, Eelco
AU - Helderman-van den Enden, Apollonia T. J. M.
AU - Houweling, Arjan C.
AU - Kempers, Marlies J. E.
AU - Loeys, Bart
AU - Malfait, Fransiska
AU - Robert, Leema
AU - Tanteles, George
AU - Frank, Michael
N1 - Funding Information: We would like to thank Natasha Barr for setting up the surveys and coordinating the meetings and Julie Hallac, the VASCERN Project Manager, for management of the MSA conference calls and meetings. This work is generated within the European Reference Network for Rare Multisystemic Vascular Diseases (VASCERN). Julie De Backer is supported as Senior Clinical Researcher by the Research Foundation Flanders (FWO) and holds a Grant for Medical Research from the Baillet Latour Fund . Publisher Copyright: © 2022 The Authors
PY - 2022/9/1
Y1 - 2022/9/1
N2 - 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. Management of patients with vEDS is difficult due to the unpredictability of the events and clear recommendations on the care of adults and children with vEDS are lacking. Therefore, we aimed to collect data on the current strategy of surveillance and monitoring of vEDS patients by expert centers in continental Europe and Great Britain, as a first step towards a consensus statement. A survey on the clinical management of vEDS was sent to all members of the Medium Sized Artery (MSA) Working Group of the European Reference Network for Rare Vascular Diseases (VASCERN) and other expert centers. All experts endorse the importance of monitoring patients with vEDS. Despite the absence of evidence based guidelines monitoring is considered in almost all countries, but screening intervals and modalities used for monitoring may differ among centers. There is a need for more prospective multicenter studies to define proper guidelines.
AB - 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. Management of patients with vEDS is difficult due to the unpredictability of the events and clear recommendations on the care of adults and children with vEDS are lacking. Therefore, we aimed to collect data on the current strategy of surveillance and monitoring of vEDS patients by expert centers in continental Europe and Great Britain, as a first step towards a consensus statement. A survey on the clinical management of vEDS was sent to all members of the Medium Sized Artery (MSA) Working Group of the European Reference Network for Rare Vascular Diseases (VASCERN) and other expert centers. All experts endorse the importance of monitoring patients with vEDS. Despite the absence of evidence based guidelines monitoring is considered in almost all countries, but screening intervals and modalities used for monitoring may differ among centers. There is a need for more prospective multicenter studies to define proper guidelines.
UR - http://www.scopus.com/inward/record.url?scp=85133941531&partnerID=8YFLogxK
U2 - https://doi.org/10.1016/j.ejmg.2022.104557
DO - https://doi.org/10.1016/j.ejmg.2022.104557
M3 - Article
C2 - 35779834
SN - 1769-7212
VL - 65
JO - European journal of medical genetics
JF - European journal of medical genetics
IS - 9
M1 - 104557
ER -