Vascular Malformations

There are several types of vascular malformations, including:

• Capillary malformation (port-wine stain) - a flat, red or purple birthmark that usually appears on the face or neck.
• Venous malformation - a slow-growing, blue or purple mass that can occur anywhere in the body.
• Arteriovenous malformation - a tangle of abnormal blood vessels that can cause pain, swelling, and bleeding.
• Lymphatic malformation - a growth of abnormal lymphatic vessels that can cause swelling and fluid buildup in the affected area.

Symptoms

The symptoms of vascular malformations depend on the type and location of the malformation.

Symptoms include:

• Abnormal growths or masses on the skin or other tissues
• Swelling or enlargement of the affected area
• Pain or discomfort
• Redness or discoloration of the skin
• Bleeding or bruising
• Difficulty with movement or function of affected body part
• High-output heart failure (this is rare)

Diagnosis

Most commonly, vascular malformations are the result of a genetic mutation that occurred during development that will not be passed along to future generations. This also means it was likely not the result of a mutation from the parents. There are heritable vascular malformations, but these are rarer. Your doctor can discuss these important issues with you and obtain genetic counseling if needed.

Diagnosis of vascular malformations may involve physical examination, imaging tests (such as MRI, CT, or ultrasound), and biopsy. Sometimes blood is drawn to test for any blood clotting issues that may result from the malformation.

Treatment

Treatment depends on the type and severity of the malformation. Mild malformations may not require treatment, while more severe malformations may require surgery or other treatments such as embolization, laser therapy or sclerotherapy. In some cases, a combination of treatments may be necessary.

Prognosis

The prognosis for vascular malformations varies depending on the type and location of the malformation. Mild malformations may not cause any long-term problems, while more severe malformations can cause significant pain, disability, or life-threatening complications. With appropriate treatment, many people with vascular malformations can manage their symptoms and lead normal, healthy lives.