Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)
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Published on: October 22, 2014
Ingrid M B H van de Laar1, Annette F Baas2, Julie De Backer3
1Department of Clinical Genetics and Cardiology and VASCERN MSA European Reference Centre, Erasmus MC, University Medical Center Rotterdam, Wytemaweg 80, P.O. Box 2040, 3000 CA, Rotterdam, the Netherlands.
Insights
Vascular Ehlers-Danlos syndrome (vEDS) management lacks clear guidelines. Expert centers monitor vEDS patients, but practices vary, highlighting the need for standardized surveillance strategies.
Area of Science:
- Genetics
- Vascular Biology
- Rare Diseases
Background:
- Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder.
- It is characterized by vascular, intestinal, and uterine fragility.
- Pathogenic variants in the COL3A1 gene cause vEDS.
Purpose of the Study:
- To collect data on current surveillance and monitoring strategies for vEDS patients.
- To initiate a consensus statement for vEDS care.
- To understand the management approaches in expert centers across Europe and Great Britain.
Main Methods:
- A survey was distributed to members of the Medium Sized Artery (MSA) Working Group of VASCERN and other expert centers.
- The survey focused on the clinical management of vEDS.
- Data on surveillance and monitoring practices were collected.
Main Results:
- All experts emphasize the importance of monitoring vEDS patients.
- Monitoring is implemented in most countries despite the lack of evidence-based guidelines.
- Screening intervals and monitoring modalities differ significantly among centers.
Conclusions:
- There is a consensus on the importance of monitoring vEDS patients.
- Current monitoring practices are inconsistent across expert centers.
- Prospective multicenter studies are needed to establish evidence-based guidelines for vEDS management.
Abstract:
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.
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