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

All HCP in the VASCA-WG are covering this sub-thematic area of expertise.

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).

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

1. 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.
2. On the ISSVA web-site, the classification is available with more detailed genetic data: here
3. 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).
4. 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.