What are vascular abnormalities?

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Vascular malformations, also called congenital vascular malformations (CVD), are abnormalities in the formation of blood vessels. Although they are almost always congenital or present at birth, there have been rare cases where vascular malformations have been caused by trauma or linked to a neurological disorder. There are several types of CVM, including arteriovenous malformations, capillary malformations, lymphatic malformations, venous malformations, and combined vascular malformations. These usually take the form of clusters of blood vessels and can cause aberrations in blood flow. Vascular malformations are divided into two groups, fast flow and slow flow, based on the speed of blood flow through the lesion.

Arteriovenous malformations (AVMs) are one of the most common and dangerous CVMs. These vascular malfunctions occur when blood vessels pool across a capillary bed to provide an abnormal direct connection between arteries and veins. Normally, the artery would carry oxygenated blood to the capillaries, which would distribute the blood throughout the body’s tissues and then return the deoxygenated blood to the veins. The direct connection between veins and arteries in an AVM causes blood to pool in the veins.

The AVM is especially dangerous because it is delicate and prone to bleeding. If the injury occurs to the brain, the bleeding can cause a fatal stroke. These vascular malformations usually have few, if any, symptoms and are often diagnosed after the lesion has ruptured and caused damage, such as paralysis or death, to the body. Less serious symptoms can include headaches, neurological disorders, and seizures. Doctors can treat an AVM by removing the offending group of blood vessels with surgery, excluding it from the rest of the circulatory system through embolization, or intentionally damaging the blood vessels around the lesion with radiosurgery to cause blood vessels to close and interruption of the AVV.

A capillary malformation, or port-wine stain, can be diagnosed visually, appearing as a red or pink birthmark that can appear in small or large patches. This is caused by the presence of abnormally large capillaries in a certain area. When present on the forehead or eyelid, red wine stains are associated with Sturge-Weber syndrome, and markings on the spine are linked to Cobb syndrome. The lesions may grow and darken over time, eventually creating lumps on the skin, others may fade by age one. Laser therapy is used for more superficial vascular malformations, and surgery is required for deeper tissue capillary growths and malformations.

A venous malformation may also have visible symptoms, usually soft, red or blue, lumpy skin. This is caused by a lack of smooth muscle in the veins making them abnormally dilated. In addition to cosmetics, venous malformations can suddenly clot or bleed, leading to serious complications. These vascular malformations can be treated with surgical removal, laser therapy, compression garments, or sclerotherapy, in which an irritant is injected in an attempt to shrink the affected veins.

Lymphatic malformations are also physically visible, presenting as an enlarged structure, such as a toe or lip, or a blister on the skin. This is caused by the slowing down of fluid through the lymphatic system in the veins, resulting in a buildup of fluid in the lymphatic vessels. Complications can include difficulty breathing if located in the trachea, infection due to leaking lymph, or Gorham’s syndrome if located near a bone, which can cause bone loss. Treatments are similar to those for venous malformations.

Combined vascular malformations include more than one type of vessel abnormality. These usually affect the limbs, but can be present anywhere on the body. Complications and treatment vary depending on the location of the abnormality and the types of malformations present. Combined vascular malformations are diagnosed using magnetic resonance imaging (MRI), computed tomography (CT), X-rays, and ultrasound.

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