The International Society for the Study of Vascular Anomalies (ISSVA) was officially founded in 1992, two years after its first International Workshop held in 1990 in Amsterdam. The ISSVA workshops, held all over the world, gather hundreds of international specialists of various medical disciplines involved in the treatment of patients afflicted with vascular anomalies. These biennial workshops have fostered time proven personal contacts, collaboration, and informal exchange of scientific knowledge concerning vascular anomalies. 

The ISSVA membership is comprised of the dedicated physicians, scientists, and nurses who attend the workshops and support the fundamental mission of the organization to improve the lives of patients with vascular anomalies.

Next year, 2018, the ISSVA will hold its 22nd International Workshop on Vascular Anomalies, and they return to the very place where it all started, the beautiful city of Amsterdam. 

From May 29-June 1 2018, a wide array of specialists including intervention radiologists, dermatologists, plastic surgeons, ENT surgeons, pediatricians, pediatric surgeons, oncologists and pathologists, will present the latest developments in the study and treatment of vascular anomalies.

This event may be of interest to all of our members, if you want to learn more, please visit the ISSVA website: 

https://www.issva2018.org/en/Home_10_6_12.html

http://www.issva.org/about-issva

Researchers in the group of Prof M. Vikkula of the de Duve Institute in close collaboration with the Vascular Anomalies Center (Prof Laurence Boon) and the Center for Human Genetics (Dr Nicole Revencu), both at Cliniques universitaires Saint-Luc, discovered a new form of inherited vascular lesions that they named CM-AVM2. Affected persons have cutaneous capillary malformations (CMs, commonly called “port wine stains”), accompanied by arteriovenous malformations (AVMs). The latter can have severe consequences to the health of the individual.

They further discovered that this disorder is caused by mutations in a gene called EPHB4. EPHB4 is known to play an important role in the formation of blood vessels, and especially in the specification of arteries and veins. The mutations cause loss of function of EPHB4 thereby disturbing a signaling mechanism inside the cells that form the interior surface of blood vessels. 

The researchers found the disorder by studying families in which capillary malformations existed in several individuals, suggesting that they could be caused by an inherited mutation. These individuals did not have a mutation in the RASA1 gene that the group had previously identified to cause CM-AVM1. In DNA samples from such families, they looked for genetic variants using the so-called Whole Exome Sequencing (WES) strategy on the bases of Next Generation Sequencing (NGS) on the UCL Genomics Platform (https://www.deduveinstitute.be/fr/genomics-platform) and the Highlander, an in-house bioinformatics framework developed by Dr Raphael Helaers, in the group of Prof M. Vikkula. This led to the discovery of mutations in EPHB4 in a series of affected individuals. Subsequently, a larger cohort was specifically sequenced for this gene leading to the identification of 54 families (110 affected individuals) with an inherited EPHB4 mutation.

The affected persons in these families have pink-to-red capillary malformations (CMs), 25% of which have a pale ring around them. This is a sign for this inherited disorder, as common CMs do not have such a ring. In 18% of the affected individuals, a vascular lesion with fast arterial flow is also discovered. They are commonly located in the head and neck region, and sometimes in the central nervous system (brain or spine). CM-AVM2 individuals also often have small telangiectasias (threadlike red patterns) around the mouth and on the chest, which may help diagnose this disorder.

At the hyper-specialized Vascular Anomalies Center at Cliniques universitaires Saint-Luc, CMs are commonly treated by laser. However, the AVMs are much more difficult to manage. They cause chronic pain, life-threatening bleeding, functional impairment, and severe esthetic distortion. Surgery is possible for small and well-localized lesions. Sometimes, intra-vascular embolization (blockade of abnormal vessels by an injected product) by an interventional radiologist is an option. Patients with extensive lesions cannot be cured, and need life-long follow-up and repeated treatment. Discovery of the genetic basis of the disease allows specialized genetic counseling, and more importantly, gives the bases to develop medicines interfering with the dysfunctional signaling mechanism. Such an approach has already been performed by the group for a related disorder (venous malformation) with success.

The research was mainly performed by Mustapha Amyere in the group of Prof Miikka Vikkula at the de Duve Institute. The group cooperated tightly with the Vascular Anomalies Center (Prof Laurence Boon) and the Center for Human Genetics (Dr Nicole Revencu), both at Cliniques universitaires Saint-Luc, and with over 40 clinics and research institutions from all over the world in this research. The results were recently published in the prestigious Cardiovascular journal Circulation. .