What is Vascular Malformation

Vascular malformation is a defect in the development of a blood or lymph vessel. Vascular malformations are present at birth, but they may not cause signs or symptoms until years later. Vascular malformations can occur anywhere that blood or lymph circulates in your body. Lymph is fluid that is part of the body’s disease-fighting (immune) system.

There are four types of vascular malformations.

Venous malformations

These affect the veins, which are blood vessels that carry blood back to the heart. These are the most common type.

Arteriovenous malformations

These involve veins and arteries. Arteries are blood vessels that carry oxygen-rich blood away from the heart.

Lymphatic malformations

These affect lymph vessels. These vessels carry fluid through the body that helps to fight infections.

Capillary malformations

These affect capillaries, which are tiny blood vessels that connect veins to arteries.

What are the causes?

This condition is caused by an error in development that occurs before birth. In most cases, the cause of the error is not known. In some cases, it may be caused by a change in a gene (mutation). These mutations can be passed down through families (inherited).

What are the signs or symptoms?

The main symptom of this condition is a skin blemish or lump that swells, bleeds, or is painful. Other signs and symptoms depend on the type, location, and size of the malformation.

• Venous malformations. These commonly appear on the face, arms, legs, or the area between the neck and groin (torso). They may have a bluish appearance.
• Arteriovenous malformations. These have different symptoms depending on where they grow in the body.
  • Brain malformations may cause a headache or seizure. They can also cause weakness, dizziness, confusion, loss of speech, or other symptoms of a bleeding (hemorrhagic) stroke. These malformations can be life-threatening.
  • Spinal cord malformations may cause back pain, weakness, or inability to feel or move (paralysis).
  • Chest malformations may cause shortness of breath, fatigue, a cough, or coughing up blood.
  • Malformations in the head or neck may cause vision changes or difficulty with breathing or swallowing.
• Lymphatic malformations. These cause swelling on the face and neck.
• Capillary malformations. These may look like a purple stain (port-wine stain) on the face. Over time, the stain may become darker and the skin may become thicker.

How is this diagnosed?

This condition may be diagnosed based on:

• A physical exam. Some malformations can be seen or felt on the body.
• Tests that create detailed images of the body. These may include:
  • Ultrasound. This test uses sound waves to make images.
  • MRI. This test is used to diagnose deep vascular malformations.
  • CT scan. This uses X-rays to make a three-dimensional image.
  • Angiogram. This is a type of X-ray that is taken after a dye is injected into an artery. The dye travels to the malformation. This imaging is most important for diagnosing arteriovenous malformations.

How is this treated?

Treatment depends on the type, size, and location of the malformation as well as on any symptoms. In some cases, treatment may not be needed. The malformation will be checked often to see if it is growing. If treatment is needed, the options include:

• Laser treatment. This may be used to treat malformations near the skin. This is often the best treatment for capillary malformations.
• Embolization. This treatment uses a glue substance or a particle that is inserted into a blood vessel that supplies a malformation. This blocks blood flow and shrinks the malformation.
• Sclerotherapy. This involves inserting an irritating substance into a blood vessel or lymphatic vessel. This causes the vessel to shrink and become a scar.
• Radiosurgery. This is an X-ray treatment to destroy a specific spot or to shrink a malformation. You may have this treatment to treat arteriovenous malformations in the brain or spinal cord.
• Surgery. Some vascular malformations can be removed surgically. You may have other treatments to shrink the malformation before surgery.

Follow these instructions at home:

• Take over-the-counter and prescription medicines only as told by your health care provider.
• Return to your normal activities as told by your health care provider. Ask your health care provider what activities are safe for you.
• Keep all follow-up visits as told by your health care provider. This is important.

Contact a health care provider if:

• You have a fever.
• You have pain.
• You have a vascular malformation near your skin that changes size, bleeds, or becomes painful.
• You have difficulty swallowing.
• You have a headache, backache, or loss of feeling (numbness).
• You have a cough.
• You have dizziness, weakness, or confusion.

Get help right away if:

• You have trouble breathing.
• You have severe bleeding.
• You cough up blood.
• You have a severe headache or back pain.
• You have loss of movement.
• You have any symptoms of a stroke. “BE FAST” is an easy way to remember the main warning signs of a stroke:
  • B – Balance. Signs are dizziness, sudden trouble walking, or loss of balance.
  • E – Eyes. Signs are trouble seeing or a sudden change in vision.
  • F – Face. Signs are sudden weakness or numbness of the face, or the face or eyelid drooping on one side.
  • A – Arms. Signs are weakness or numbness in an arm. This happens suddenly and usually on one side of the body.
  • S – Speech. Signs are sudden trouble speaking, slurred speech, or trouble understanding what people say.
  • T – Time. Time to call emergency services. Write down what time symptoms started.
• You have other signs of a stroke, such as:
  • A sudden, severe headache with no known cause.
  • Nausea or vomiting.
  • Seizure.

Summary

• A vascular malformation is an abnormal development of a blood or lymph vessel that you are born with.
• Symptoms depend on the type, size, and location of the malformation that you have.
• You might not develop symptoms for many years.
• Imaging studies are needed to diagnose vascular malformations inside the body.
• There are many options for treatment. The best treatment will depend on the type, size, symptoms, and location of the malformation.