About Vascular Anomalies
What is a vascular anomaly?
Vascular anomaly is an umbrella term for a group of defects that develop before or after birth in any of the tens of thousands of miles of vessels (capillaries, arteries, veins, and lymphatic vessels) that carry blood and lymphatic fluid throughout the body. Many vascular anomalies arise in the head and neck region, but they can develop in any part of the body reached by these vessels—that’s everywhere.
Vascular anomalies may be visible on the skin as a raised and/or reddish or purplish area, or may form below the skin on organs or muscle. Many vascular anomalies are uncomplicated and don’t require medical intervention. But some vascular anomalies can cause disfigurement as they change with age. More serious anomalies can affect critical functions such as breathing, eating, and vision and can be challenging to treat.
There are two basic types of vascular anomalies:
- Vascular tumors, which are overgrowths of cells that line blood vessels. These include hemangiomas, the most common form of vascular anomaly and the most common type of benign tumor in children.
- Vascular malformations, which are disorders in the development of the blood vessels, including capillaries, arteries, veins, or lymphatic vessels.
Vascular tumors are benign (noncancerous) growths caused by blood vessels that grow abnormally. Some grow for a period of time and then shrink without treatment; others can cause functional or other symptoms and require treatment. Types of vascular tumors include:
- Hemangiomas (infantile and congenital)
- Pyogenic granuloma
- Tufted angioma
- Kaposiform hemangioendothelioma
- Spindle-cell hemangioma
Vascular malformations are benign (noncancerous) lesions that are already formed at birth, though they may not appear until later in life. These lesions are clusters of misformed vessels that can disrupt normal blood and lymphatic flow and cause bleeding and abnormal clotting. When vascular malformations arise in a limbs and or one side of the face they can also cause disfigurement as the growth of the affected area is asymmetrical compared to the unaffected side. They sometimes press inward on internal organs, interfering with vision, eating, and breathing. Vascular malformations tend to grow proportionately with the child, and without treatment may persist throughout life. Types of vascular malformations include:
- Capillary malformations (CMs or port wine stains)
- Lymphatic malformations (LMs)
- Venous malformations (VMs)
- Arteriovenous malformations (AVMs)
- Combined/complex malformations (in which more than one blood vessel type is affected)
Related Genetic Disorders
Many disorders involving the capillaries, veins, and/or the lymphatic system occur in combination with known genetic disorders such as:
- Sturge-Weber syndrome
- Klippel-Trenaunay syndrome
- PIK3-related Overgrowth Spectrum (PROS, CLOVES, MCAP)
- CM-AVM syndrome
- Parkes-Weber syndrome
- Hereditary hemorrhagic telangiectasia (HHT)
- Proteus syndrome
- PTEN-related overgrowth syndrome (Bannayan-Riley-Ruvalcaba syndrome (BRRS))
Symptoms of Vascular Anomalies
Your child's symptoms will depend on what type of vascular anomaly he or she has, and the location of the vascular anomaly. Symptoms may include a growth or birthmark, pain, bleeding, obstruction, or swelling and malformation of the limbs, face, tongue, or genitals.
Diagnosis of Vascular Anomalies
Many common vascular anomalies will be diagnosed by your child's pediatrician at birth or during a routine physical examination. Your child's pediatrician may refer you to an expert for additional evaluation or request an initial imaging test to gather more information, especially if he or she suspects a deeper vascular anomaly. Large vascular anomalies are sometimes detected before birth by prenatal ultrasound. In that case, your obstetrician may refer you to our Maternal Fetal Medicine program, whose specialists will refer you to our team for prenatal consultation and management.
Because vascular anomalies can affect different body systems, an accurate diagnosis is critical to their management. Choosing the correct initial test and method by which it is performed is very important for accurate diagnosis and to prevent unnecessary testing. Our Vascular Anomalies Clinic is designed to bring specialists together to ensure that your child receives an accurate diagnosis, and that the treatment and management leads to the best possible outcome.