Vascular malformations are a type of congenital lesion (a growth present at birth) made up of arteries, veins, capillaries and/or lymphatic vessels. About 3% of children are born with vascular malformations. These malformations are not tumors and are therefore not cancerous. Most of the lesions only cause cosmetic issues, but some can cause difficulties depending on where it forms. Unlike hemangiomas, vascular malformations are present at birth (though it may take a few weeks to even a few years to be noticeable) and grow throughout a person’s lifetime. There are several different types depending on the type of blood vessel involved. Two common types of vascular malformations are salmon patches and port wine stains.
Symptoms vary based on the location of the lesion and the affected type of blood or lymph vessel. Some growths may affect vision or breathing. The causes of most of the lesions are not well understood. Vascular malformations are believed to have a genetic cause and display autosomal dominant inheritance, meaning you only need to inherit one changed gene to cause the condition (genes come in pairs one from each parent). Most of the involved genes are not known at this time, and the change usually happens by chance (sporadic). However, affected individuals will still have a 50% chance of passing it to their children. Locations and sizes of lesions can vary greatly within a family.
In order to diagnose vascular malformations, your doctor will perform a physical exam. Other tests may include imaging tests, including MRIs, CT scans, and ultrasounds. Treatment options may include surgery, laser therapy or injection of medicine into the vessel to make it less visible; however, treatment may not always be necessary. Talk to your doctor(s) about the most current treatment options. Genetic counselors and support groups are also good sources of information and can help connect you with others affected by vascular malformations.