Also called Birthmarks, Vascular Malformations and Anomalies.
Congenital vascular malformations (CVM) occur in about 1% of all births and can vary from simple, flat birthmarks to complex, 3-dimensional structures deep within the body. They can be made up of arteries, veins, lymph vessels, or a combination of these.
Only veins: Venous Malformations (VM)
Only lymph vessels: Lymphatic Malformations (LM)
Both veins and lymph vessels: Venolymphatic Malformations (VLM)
Arteries connected directly to veins without any capillaries in between: Arteriovenous Malformations (AVM)
The cause for vascular malformations is usually sporadic (occurs by chance). However, they can also be inherited in a family as an autosomal dominant trait. Autosomal dominant means that one gene is necessary to express the condition, and the gene is passed from parent to child with a significant risk for each pregnancy.
Males and females are equally affected and there is great variability in expression of the gene. Vascular malformations are a manifestation of many different genetic syndromes that have a variety of inheritance patterns and chances for reoccurrence, depending on the specific syndrome present.
These vascular malformations can cause a variety of symptoms, depending on the location in the body:
Venous malformations and Lymphatic malformations may cause pain where ever they are located. Venous and lymphatic malformations may cause a lump under the skin. There may be an overlying birthmark on the skin. Bleeding or lymph fluid leaking may occur from skin lesions. Lymphatic malformations tend to become infected, requiring repeated antibiotic treatments. Venous and lymphatic malformations may be associated with a syndrome called Klippel-Trenaunay Syndrome.
Arteriovenous malformations (AVMs) may cause pain. They are also more stressful on the heart because of the rapid shunting of blood from arteries to veins. Depending on their location, they may also result in bleeding.
Hemangioma is another common term used for vascular anomalies. However, this name actually applies to a childhood vascular anomaly that has a rapid growth phase between birth and 3 months of age. These will resolve completely by age 7. The major reason for us to treat these is for low platelets that do not respond to medical treatment, or in the liver because of massive shunting with a strain on the heart.
Treatment of vascular malformations involves the use of a needle or catheter to inject medical grade sclerosant or embolisation material into the malformation to obstruct the flow of blood. The specific procedure will depend on the type of vascular malformations you have.
Laser therapy is usually effective for capillary malformations or port wine stains, which tend to be flat, violet or red patches on the face.
Venous malformations are usually treated by direct injection of a sclerosing (clotting) medication which causes clotting of the channels.
Arterial malformations are often treated by embolization (blood flow into malformation is blocked by injecting material near the lesion).
Most often, a combination of these various treatments is used for effective management of the lesion. Transcatheter embolization and Percutaneous ablation can be used to shrink a large vascular malformations to make it easier to be operated on. In some cases, surgery may be avoided altogether. Sometimes the treatment requires several stages to fully eradicate the entire malformation.