Vascular anomalies are an extremely heterogenous and complex group of rare and often life-threatening disorders that may present as either tumors or malformations. They are composed of arteries, veins, capillaries, lymphatic vessels or any combination of these. Currently, there are only a handful of partial treatments, and no cures.
What are arteries?
An artery is a vessel (tube) and part of the body’s circulation system. It carries blood (mainly oxygenated via our lungs) and is pumped from the heart to all parts of the body.
What are veins?
A vein is a vessel (tube) and part of the body’s circulation system. Veins carry oxygen-depleted blood toward the heart to be pumped to the lungs to become oxygenated.
What are lymphatics?
A lymphatic is a thin vessel (tube) that carries lymph (lymphatic fluid = absorbed fat, protein and minerals, foreign invaders (bacteria and viruses), cancer cells and dead or damaged cells) and white blood cells throughout the lymphatic system.
What are capillaries?
Capillaries are tiny blood vessels also called “branching blood vessels” that form a connection between the arteries and veins and/or lymphatics.
What is the lymphatic system?
The lymphatic system has three important roles: it is part of our circulatory system (maintains fluid levels and transports and removes waste); it is part of our immune system (protects from infection) and it is a part of our digestive system (carries absorbed fat, protein and other nutrients from the GI tract). Approximately 20 liters of fluid flows daily through our body’s circulatory system. The arteries deliver nutrients, and oxygen to the body’s organs, tissues and cells. The veins receive most of the waste products that are left and the oxygen-depleted blood. Approximately 17 liters go back to our circulation. And, the rest, approximately 3 liters moves into your body’s tissues. The lymphatic system is responsible for collecting the excess fluid called lymph from the tissues and moves it through the lymphatic system up into our chest where it empties back into the venous system through the thoracic duct.
Check out this video that explains the circulatory system. What is the Lymphatic System? From the Children’s Hospital of Colorado: https://youtu.be/MfALHzheD-g
In 2018, the International Society for the Study of Vascular Anomalies (ISSVA)) classified vascular anomalies into to main groups: vascular tumors and vascular malformations (link to ISSVA Vascular Anomaly Classification System: https://www.issva.org/classification) Vascular malformations are then further subdivided into simple, combined, or associated with other anomalies and are grouped as syndromes (CLOVES, Sturge Weber, Kippel-Trenaunay and Parker Weber Syndromes).
Classification of Vascular Anomalies by Prof. Laurence Boon, Plastic Surgeon, Coordinator of the Center for Vascular Anomalies, Cliniques Universitaires St Luc, Brussels, Belgium. https://youtu.be/OmsDgrboH-E
There are over 60 different vascular anomalies described in the ISSVA classification system. Many are represented by small independent and hard-working patient advocacy organizations working passionately to address the needs of their constituencies, to educate and to advance research.
Diagnosis of vascular anomalies has historically been based on outward appearance, imaging (ultrasound, MRI and sometimes CT scans), laboratory tests, and tissue biopsy. However, biopsy is itself dangerous, as the fragile tissues involved may easily bleed or leak lymphatic fluid internally, causing major complications. There is a vital need for safer diagnostic methods such as blood biomarkers and cell-free DNA. Due to the difficulty of diagnosis and the unfamiliarity of clinicians with these disorders, many or perhaps most cases go improperly diagnosed and treated, resulting in unnecessary procedures, and frustration and fear for patients and families.
Diagnostic Approaches to Vascular Anomalies Diagnostic Approaches for Vascular Anomalies by Dr. Friedrich Kapp, Physician Scientist, University Medical Center, Freiburg, Germany. https://youtu.be/ohbFsVGTppA
Academic centers and numerous non-profit patient advocacy groups representing specific vascular anomalies are working hard daily, doing what they can to address the needs of their own constituencies and to advance research.
However, due to the lack of resources, funding and bandwidth, this important effort is met with limited collaboration and numerous distractions.
While we are extremely fortunate to have the most passionate and brightest clinicians and scientists dedicated to this field, the number is limited.
Further, clinicians dedicated to our field are incredibly busy taking care of seriously ill and complicated patients with little time to execute research successfully.
Meanwhile, our patient advocacy groups vie for resources and concentrate efforts supporting, educating, and advocating for their community.
As the scientific understanding of vascular anomalies has grown, it is increasingly clear that the shared biology and clinical management challenges of all vascular anomalies combined warrants a coordinated collaborative approach.
In 2020 a group of pediatric hematologists / oncologists from across North America initiated a multi-institutional collaborative research consortium, the Consortium of iNvestigators of Vascular AnomalieS (CaNVAS) with its administrative hub at the Children’s Hospital of Philadelphia.
These experts in vascular anomalies understood that the most important first step toward the discovery of improved therapeutics and a cure was the need to form a Collaborative Research Network (CRN).
However, to carry out successful multi-institutional research studies including large-scale interventional therapeutic trials the key is to develop strong ties with the patient community.
Research requires sharing of experiences from clinical care and patient networks.
While patients may not have the scientific background to set detailed laboratory research priorities, all patients play an important motivational role through their enthusiasm and the sharing of their inspirational stories, and other skills that complement those of the researcher.
Cures for vascular anomalies will not come from a single breakthrough in one lab, but from a sustained incremental approach, where genetic and biochemical abnormalities are identified, and increasingly effective treatments piloted. By bringing patients and their individual patient advocacy groups all together collaboratively under one umbrella organization, we reduce the time between scientific discovery and effective treatment.
1. AVM Survivors Network https://www.avmsurvivors.org/
2. CureHHT (Cure Hereditary Hemorrhagic Telangiectasia https://curehht.org/
3. Cloves Syndrome Community https://clovessyndrome.org
4. Kennedy’s Cause (Lymphatic Malformations) https://kennedyscause.com/
5. Kippel-Trenaunay Support Group https://k-t.org/
6. Lymphagniomatosis & Gorham’s Disease Alliance (LGD Alliance) - Complex Lymphatic Anomalies www.lgdalliance.org
7. National Organization of Vascular Anomalies (NOVA) – All Vascular Anaomlies http://www.novanews.org/
8.Phace Syndrome Community https://www.phacesyndromecommunity.org/
9. Project FAVA (Fibroadipose Vascular Anomaly) https://www.projectfava.org/
10. PTEN Hamartoma Foundation https://ptenfoundation.org/
11.The Sturge-Weber Foundation https://sturge-weber.org/
12. Vascular Birthmark Foundation (VBF) https://birthmark.org/
CMTC (Cutis Marmorata Telangiectatica Congenita and Other Vascular Malformations) - Netherlands https://www.cmtc.nl/en/
GoPIK3s, (represents PIK3 and related disorders) - UK https://gopi3ks.com/
HEVAS, http://www.hevas.eu/studiemiddag-2017 website is in DUTCH
LGD Alliance -Europe, https://www.lgda.eu/
M-CM Network (macrocephaly-capillary malformation) https://www.m-cm.net/
Patients Association of Vascular Anomalies JAPAN, (website is in Japanese https://www.pava-net.com/
Proteus Community Foundation International https://www.proteus-syndrome.org/
VASCular Anomaly Patient Association (VASCAPA), Belgium, https://vascapa.org/en/
AND, VASCAPA's Find A DOCTOR webpage: https://vascapa.org/en/find-a-doctor
If we are missing any patient organizations representing a vascular anomaly on this list – contact us and let us know! We will be sure to post them.