VASCA Working Group, built upon Multidisciplinary Centres of Excellence for Vascular Anomalies
VASCA-WG is chaired by Pr. Laurence BOON and Pr. Miikka VIKKULA, Centre for Vascular Anomalies (FR / EN), Cliniques Universitaires Saint-Luc, Brussels, Belgium. The VASCA-WG is co-chaired by Pr. Leo J. SCHULTZE KOOL, Radboudumc Expert Center for Hemangioma and Vascular Anomalies (HECOVAN), Nijmegen, Netherlands. VASCA-WG cooperates with the Patient-WG, , whose representative participating to the WG is Caroline VAN DEN BOSCH, HEVAS.


The Centre for Vascular Anomalies, Cliniques Universitaires Saint-Luc, is 25 years old this year 2016, and combines specialists from various disciplines: surgery, genetics, paediatrics, dermatology, radiology, interventional radiology, ENT, etc.
The Centre of Reference is active in ISSVA, the International Society of the Study of Vascular Anomalies, which was based in Belgium until 2015, and is now homed in the USA. We have been in the scientific committee, and the Centre is now in the ISSVA Board.
Vascular anomalies are badly known disorders, and thus patients often run around trying to find a physician who knows their disease. To help them, the Center for Vascular Anomalies have also founded a Patient Association VASCAPA.
We have a major international network with clinicians within the EU and the rest of the world, and have been implicated in the identification of most of the genes for these pathologies: PubMed
We have also ongoing clinical trials, and had a break through with rapamycin last year. Boscolo et al., JCI 2015
For all these and many other reasons, a Network that units the different Multidisciplinary Centers of Reference for Vascular Anomalies in the framework of a broader Network of Centres of Excellence in Rare Multisystemic Vascular Diseases in the EU countries and beyond is extremely important.
This was actually discussed at the Controversies on Vascular Anomalies meeting in May 2015, New York : worldwide, ISSVA should start endorsing Centers for Vascular Anomalies and a network should be created in between them. Thus, the ERN initiative is perfectly timely for us.
The Center for Vascular Anomalies at Cliniques universitaires Saint-Luc in Brussels Belgium (and other HCP members of the VASCA-WG) takes care of a whole variaty of pathologies within the field of Vascular anomalies (see: Wassef et al., Revised classification of Vascular Anomalies, 2015 Pediatrics, and ISSVA web-site).
The Rare Diseases included in this ERN Diseases Working Group are (non exhaustive list):
Bases for the estimated incidence and prevalence numbers: 500 Million inhabitants within European union with about 6 million newborns annually.
sub-thematic areas of expertise | Rare or complex disease(s) or condition(s) or highly specialized interventions | Code/ICD/ Orphacode / Group of Codes | Incidence (Number of cases / year) (in the EU) | Prevalence (in the EU) |
---|---|---|---|---|
VASCA | Rare arteriovenous malformation | ORPHA211266 | 120 | 10000 |
VASCA | Blue Rubber Bleb Nevus syndrome | ORPHA1059 | 6 | 500 |
VASCA | Capillary malformation-arteriovenous malformation | ORPHA137667 | 120 | 10000 |
VASCA | Cerebral arteriovenous malformation | ORPHA46724 | ||
VASCA | CLAPO syndrome | ORPHA168984 | ||
VASCA | CLOVES syndrome | ORPHA140944 | 60 | 5000 |
VASCA | Cutis Marmorata Telangiectatica Congenita | ORPHA1556 | 12 | 1000 |
VASCA | Diffuse neonatal hemangiomatosis | ORPHA2123 | ||
VASCA | Facial arteriovenous malformation | ORPHA156230 | ||
VASCA | Familial cerebral cavernous malformation | ORPHA221061 | 600 | 50000 |
VASCA | Diffuse lymphatic anomaly | ORPHA141209 | ||
VASCA | Glomuvenous malformation | ORPHA83454 | 30 | 2500 |
VASCA | Gorham-Stout syndrome | ORPHA73 | 6 | 500 |
VASCA | Infantile hemangioma of rare localization | ORPHA210589 | ||
VASCA | Kaposiform hemangioendothelioma | ORPHA2122 | ||
VASCA | Klippel-Trénaunay-Weber syndrome | ORPHA2346 | 60 | 5000 |
VASCA | LUMBAR association | ORPHA83628 | ||
VASCA | Rare lymphatic malformation | ORPHA2415 | 600 | 50000 |
VASCA | Megalencephaly-capillary malformation-polymicrogyria syndrome | ORPHA60040 | 12 | 1000 |
VASCA | Macrocystic lymphatic malformation | ORPHA79489 | ||
VASCA | Maffucci syndrome | ORPHA163634 | 6 | 500 |
VASCA | Microcystic lymphatic malformation | ORPHA79490 | ||
VASCA | Mixed cystic lymphatic malformation | ORPHA458792 | ||
VASCA | Mucocutaneous venous malformation | ORPHA2451 | ||
VASCA | Non-involuting congenital hemangioma | ORPHA141179 | 20 | 500 |
VASCA | Primary intralymphatic angioendothelioma | ORPHA458768 | ||
VASCA | Parkes-Weber syndrome | ORPHA90307 | 30 | 2500 |
VASCA | Partially-involuting congenital hemangioma | ORPHA458785 | ||
VASCA | PHACE syndrome | ORPHA42775 | ||
VASCA | Proteus syndrome | ORPHA744 | 6 | 500 |
VASCA | PTEN hamartoma tumor syndrome | ORPHA306498 | 30 | 2500 |
VASCA | Pulmonary arteriovenous malformation | ORPHA2038 | ||
VASCA | Rapidly involuting congenital hemangioma | ORPHA141184 | 60 | 5000 |
VASCA | Rare capillary malformation | ORPHA211247 | 60 | 5000 |
VASCA | SACRAL association | ORPHA2125 | ||
VASCA | Spindle cell hemangioma | ORPHA210584 | ||
VASCA | Sturge-Weber syndrome | ORPHA3205 | 120 | 10000 |
VASCA | Tufted angioma | ORPHA1063 | 3 | 250 |
VASCA | Rare venous malformation | ORPHA211252 | 1200 | 100000 |
VASCA | Verrucous hemangioma | ORPHA464318 |
In this ERN, there is a specific WG for Pediatric and Primary Lymphedemas.
Hereditary hemorrhagic telangiectasia (HHT, orphanet: 774, ICD‐10: I78.0) is also a vascular anomaly, but for historical reasons specialised centers have been build up for that single diseases on the past. HHT is included as a separate WG within the ERN (see HHT WG).

BELGIUM
Cliniques universitaires Saint-Luc, Brussels, Belgium
VASCERN VASCA European Reference Centre, Center for Vascular Anomalies


Chair
Prof. Miikka VIKKULA
Molecular Geneticist

Prof. Laurence M. BOON
Plastic and Microsurgery Surgeon

ePAG Deputy Co-Chair
Maria BAREA

NETHERLANDS
Radboud university medical center, Nijmegen, Netherlands
VASCERN VASCA European Reference Centre, Expert center for Hemangioma and Vascular Anomalies (Hecovan)


Co-chair
Prof. Leo SCHULTZE KOOL
Interventional Radiologist

Dr. Carine VAN DER VLEUTEN
Dermatologist

ePAG Co-Chair
Caroline VAN DEN BOSCH

FINLAND
Helsinki University Hospital, Helsinki, Finland
VASCERN VASCA European Reference Centre, Department of Pediatric Surgery


GERMANY
University Medical Center Freiburg, Freiburg, Germany
VASCERN VASCA European Reference Centre, Center of Pediatrics and Adolescent Medicine


IRELAND
Our Lady’s Children’s Hospital Crumlin, Dublin, Ireland
VASCERN VASCA European Reference Centre, Dermatology Department


ITALY
Bambino Gesù Children’s Hospital, I.R.C.C.S, Rome, Italy
VASCERN VASCA European Reference Centre, Dermatology Department


SWEDEN
Karolinska University Hospital, Stockholm, Sweden
VASCERN VASCA European Reference Centre, Department of Pediatric Surgery

AFFILIATED PARTNERS
There are 2 types of affiliated partners:
- Associated National Centres (mainly healthcare providers) for those ERNs where an EU Member State is not yet represented by a full member in the respective ERN. It establishes a link with one specific ERN.
- A National Coordination Hub which establishes at once a link with more than one Network in which a given Member State is neither represented by a full member nor by an Associated National Centre. National Coordination Hubs may especially represent a useful solution for those Member States with very small populations that need to establish such links with many ERNs at once.
For all documents related to Affiliated Partners see the Board Statement States page here
Associated National Centres

AUSTRIA
Patient Pathways aim to improve the care and management of patients with a rare disease. They include the “red flags” that may lead to the suspicion of the disease, how to reach a definite diagnosis and the management and follow-up recommendations. They are a very important tool used in defining the best patient care and will be further validated and updated when needed.
The first Patient Pathway by the VASCA-WG on Severe/Rare Infantile Hemangioma can be found here
German translation here
Italian translation here
Spanish translation here
- Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, Burrows P, Frieden IJ, Garzon MC, Lopez-Gutierrez JC, Lord DJ, Mitchel S, Powell J, Prendiville J, Vikkula M; ISSVA Board and Scientific Committee. Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies. Pediatrics. 2015 Jul;136(1):e203-14. doi: 10.1542/peds.2014-3673. Epub 2015 Jun 8. Review.
- On the ISSVA web-site, the classification is available with more detailed genetic data: here
- Stillo et al. Vascular Anomalies Guidelines by the Italian Society for the Study of Vascular Anomalies (SISAV). Angiology, volume 34. April 2015, Suppl 1 to issue No. 2. (These guidelines will be discussed within the VASCA-WG for further development so as to establish first European guidelines).
- A. Elajmi, P. Clapuyt, F. Hammer, A.-C. Bataille, B. Lengele, L.M. Boon. Prise en charge des anomalies vasculaires chez l’enfant. Management of vascular anomalies in children. Annales de chirurgie plastique esthétique (2016). (These guidelines will be discussed within the VASCA-WG for further development so as to establish first European guidelines).
The VASCA-WG will also be working in tight collaboration with ISSVA, which is setting up working groups for establishment of best practice guidelines for various vascular anomalies.
Pills of Knowledge (PoK) are the deliverable for VASCERN Work Package 4 on Pills of Knowledge, defined as short single video lessons (of approximately 3-5 minutes long) in which an expert talks about a specific topic that has been selected and validated by the Rare Disease Working Groups (RDWGs).
Link to the playlist for the VASCA-WG on our YouTube Channel is here
Classification of Vascular Anomalies
Created by Prof. Laurence Boon (Plastic Surgeon, Coordinator of the Center for Vascular Anomalies, Cliniques Universitaires St Luc, Brussels, Belgium).
This Pill of Knowledge (PoK) gives a brief overview of the classification of vascular anomalies. It is intended for the medical community who is not familiar with these anomalies as it introduces the main types of vascular anomalies and their characteristics. Video in English. Subtitles available in 4 European languages.
Diagnostic Approaches for Vascular Anomalies
Created by Dr. Friedrich Kapp (Physician Scientist, University Medical Center, Freiburg, Germany).
This Pill of Knowledge (PoK) talks about the diagnostic approaches for vascular anomalies. The various types of examination and tests involved in reaching an appropriate diagnosis are described. This PoK is a valuable tool for healthcare professionals and patients wanting to learn more about how vascular anomalies are diagnosed. Video in English. Subtitles available in 4 European languages.
Multi-disciplinary Expertise Teams for Vascular Anomalies
Created by Prof. Leo Schultze Kool (Interventional Radiologist, Radboud University Medical Center, Nijmegen, Netherlands).
This Pill of knowledge (PoK) gives a brief summary of why multi-disciplinary expert teams are so necessary for the management and treatment of vascular anomalies. It is intended for the general public. Video in English. Subtitles available in 5 European languages.
Management of Vascular Anomalies
Created by Dr. Kristiina Kyrklund (Pediatric Surgeon, Helsinki University Hospital, Helsinki, Finland)
In this Pill of Knowledge (PoK) Dr. Kristiina Kyrklund gives an introduction on the individualized management of vascular anomalies and how the chosen treatment is based on the characteristic symptoms and location of the anomaly. Suitable for both healthcare professsionals and patients. Video in English. Subtitles available in 4 European languages.
The lymphatic system & lymphatic malformations (Lymfestelsel en lymfatische malformaties) – video in Dutch
This video, produced by the patient organisation HEVAS and validated by the VASCA-WG, talks about the lymphatic system and lymphatic malformations. This video has been made for patients and introduces the patient organisation HEVAS and their work.
View this video here
This video is currently being revised by the VASCA-WG so that an updated English version can be created. Stay tuned for its publication.
Treatments for lymphatic malformations (Behandelingen voor lymfatische malformaties) – video in Dutch
This video, produced by the patient organisation HEVAS and validated by the VASCA-WG, describes the treatments currently available for lymphatic malformations in a clear and understandable manner suited for patients.
View this video here
This video is currently being revised by the VASCA-WG so that an updated English version can be created. Stay tuned for its publication.
The PubMed List of 132 VASCA-WG publications from the Working Group Members is provided, and emphasizes the importance of continued clinician education.
VASCA-WG Important References
Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies.
Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, Burrows P, Frieden IJ, Garzon MC, Lopez-Gutierrez JC, Lord DJ, Mitchel S, Powell J, Prendiville J, Vikkula M; ISSVA Board and Scientific Committee.
Pediatrics. 2015 Jul;136(1):e203-14. doi: 10.1542/peds.2014-3673. Epub 2015 Jun 8. Review.
Mulliken & Young’s Vascular Anomalies: Hemangiomas and Malformations, 2nd edition (Book). Editors: Mulliken JB, Burrows PE, Fishman S.
Oxford University Press, New York, 2013, pp 1-1118.
Disorders affecting cutaneous vasculature.
Dompmartin A, Revencu N, Boon LM, Vikkula M.
In: Griffiths et al, Rook’s Textbook of Dermatology, 8th ed, section 5/chapter 73, 2016.
Vascular Anomalies.
Boon LM, Vikkula M.
In : Fitzpatrick’s Dermatology in General Medicine, 8th edition, McGraw-Hill Professional Publishing. Editors: Klaus Wolff, Lowell A. Goldsmith, Stephen I. Katz, Barbara A. Gilchrest, Amy S. Paller, David J. Leffell. 2012, vol 2, section 28, chapter 172, p 2076-2094.
Vascular malformations.
Boon LM, Enjolras O, Mulliken JB, Vikkula M.
In: Harper, Textbook of Pediatric Dermatology, 3ed. Editors: Irvine A, Yan A and Hoeger P, Wiley-Blackwell 2011, vol 1, chapter 112, pp 112.1-112.24.