The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations

Anne Dompmartin; Eulalia Baselga; Laurence M Boon; Andrea Diociaiuti; Veronika Dvorakova; May El Hachem; Paolo Gasparella; Emir Haxhija; Nader Ghaffarpour; Kristiina Kyrklund; Alan D Irvine; Friedrich G Kapp; Jochen Rößler; Päivi Salminen; Caroline van den Bosch; Carine van der Vleuten; Leo Schultze Kool; Miikka Vikkula

doi:10.1097/JOVA.0000000000000064

The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations

J Vasc Anom (Phila). 2023 Mar 23;4(2):e064. doi: 10.1097/JOVA.0000000000000064. eCollection 2023 Jun.

Authors

Anne Dompmartin¹, Eulalia Baselga², Laurence M Boon³, Andrea Diociaiuti⁴, Veronika Dvorakova⁵, May El Hachem⁴, Paolo Gasparella⁶, Emir Haxhija⁶, Nader Ghaffarpour⁷, Kristiina Kyrklund⁸, Alan D Irvine⁵, Friedrich G Kapp⁹, Jochen Rößler^{9

10}, Päivi Salminen¹¹, Caroline van den Bosch¹², Carine van der Vleuten¹³, Leo Schultze Kool¹⁴, Miikka Vikkula^{3

15}

Affiliations

¹ Dermatology Department CHU Caen Université Caen Normandie CHU Caen Côte nacre 14033 Caen Cedex, France.
² Pediatric Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain; VASCERN VASCA European Reference Centre.
³ Center for Vascular Anomalies, Division of Plastic Surgery, University Clinics Saint-Luc, University of Louvain, Brussels, Belgium; VASCERN VASCA European Reference Centre.
⁴ Dermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy; VASCERN VASCA European Reference Centre.
⁵ Paediatric Dermatology, Children's Health Ireland; Clinical Medicine, Trinity College Dublin, Ireland; VASCERN VASCA European Reference Centre.
⁶ Department of Paediatric and Adolescent Surgery, Medical University of Graz, Graz, Austria; VASCERN VASCA European Reference Centre.
⁷ Department of Plastic and Craniofacial Surgery Karolinska University Hospital Stockholm, Stockholm, Sweden; VASCERN VASCA European Reference Centre.
⁸ Department of Pediatric Surgery, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; VASCERN VASCA European Reference Centre.
⁹ Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany; VASCERN VASCA European Reference Centre.
¹⁰ Division of Pediatric Hematology and Oncology, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
¹¹ Department of Pediatric Surgery, HUSRare Disease Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland; VASCERN VASCA European Reference Centre.
¹² Hevas, Patient Organisation for Vascular Anomalies, Nijkerk, the Netherlands.
¹³ Department of Dermatology, Radboudumc Expertise Center for Haemangiomas and Congenital Vascular Malformations Nijmegen (Hecovan), Radboud University Medical Center, Nijmegen, the Netherlands; VASCERN VASCA European Reference Centre.
¹⁴ Department of Radiology, Radboudumc Expertise Center for Haemangiomas and Congenital Vascular Malformations Nijmegen (Hecovan), Radboud University Medical Center, Nijmegen, the Netherlands; VASCERN VASCA European Reference Centre.
¹⁵ Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.

Abstract

To elaborate expert consensus patient pathways to guide patients and physicians toward efficient diagnostics and management of patients with venous malformations.

Methods: VASCERN-VASCA (https://vascern.eu/) is a European network of multidisciplinary centers for Vascular Anomalies. The Nominal Group Technique was used to establish the pathways. Two facilitators were identified: one to propose initial discussion points and draw the pathways, and another to chair the discussion. A dermatologist (AD) was chosen as first facilitator due to her specific clinical and research experience. The draft was subsequently discussed within VASCERN-VASCA monthly virtual meetings and annual face-to-face meetings.

Results: The Pathway starts from the clinical suspicion of a venous type malformation (VM) and lists the clinical characteristics to look for to support this suspicion. Strategies for subsequent imaging and histopathology are suggested. These aim to inform on the diagnosis and to separate the patients into 4 subtypes: (1) sporadic single VMs or (2) multifocal, (3) familial, multifocal, and (4) combined and/or syndromic VMs. The management of each type is detailed in subsequent pages of the pathway, which are color coded to identify sections on (1) clinical evaluations, (2) investigations, (3) treatments, and (4) associated genes. Actions relevant to all types are marked in separate boxes, including when imaging is recommended. When definite diagnoses have been reached, the pathway also points toward disease-specific additional investigations and recommendations for follow up. Options for management are discussed for each subtype, including conservative and invasive treatments, as well as novel molecular therapies.

Conclusion: The collaborative efforts of VASCERN-VASCA, a network of the 9 Expert Centers, has led to a consensus Diagnostic and Management Pathways for VMs to assist clinicians and patients. It also emphasizes the role of multidisciplinary expert centers in the management of VM patients. This pathway will become available on the VASCERN website (http://vascern.eu/).

Keywords: rare disease; vascular anomalies; venous malformation.

Publication types

Review