My Brother's Diagnosis: Arteriovenous Malformations

What are arteriovenous malformations?

Arteriovenous malformations (AVMs) are defects of the circulatory system that are generally believed to arise during embryonic or fetal development or soon after birth. They are comprised of snarled tangles of arteries and veins. Arteries carry oxygen-rich blood away from the heart to the body’s cells; veins return oxygen-depleted blood to the lungs and heart. The presence of an AVM disrupts this vital cyclical process. Although AVMs can develop in many different sites, those located in the brain or spinal cord—the two parts of the central nervous system—can have especially widespread effects on the body.

AVMs of the brain or spinal cord (neurological AVMs) are believed to affect approximately 300,000 Americans. They occur in males and females of all racial or ethnic backgrounds at roughly equal rates.
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What are the symptoms?

Most people with neurological AVMs experience few, if any, significant symptoms, and the malformations tend to be discovered only incidentally, usually either at autopsy or during treatment for an unrelated disorder. But for about 12 percent of the affected population (about 36,000 of the estimated 300,000 Americans with AVMs), these abnormalities cause symptoms that vary greatly in severity. For a small fraction of the individuals within this group, such symptoms are severe enough to become debilitating or even life-threatening. Each year about 1 percent of those with AVMs will die as a direct result of the AVM.

Seizures and headaches are the most generalized symptoms of AVMs, but no particular type of seizure or headache pattern has been identified. Seizures can be partial or total, involving a loss of control over movement, convulsions, or a change in a person’s level of consciousness. Headaches can vary greatly in frequency, duration, and intensity, sometimes becoming as severe as migraines. Sometimes a headache consistently affecting one side of the head may be closely linked to the site of an AVM. More frequently, however, the location of the pain is not specific to the lesion and may encompass most of the head.

AVMs also can cause a wide range of more specific neurological symptoms that vary from person to person, depending primarily upon the location of the AVM. Such symptoms may include muscle weakness or paralysis in one part of the body; a loss of coordination (ataxia) that can lead to such problems as gait disturbances; apraxia, or difficulties carrying out tasks that require planning; dizziness; visual disturbances such as a loss of part of the visual field; an inability to control eye movement; papilledema (swelling of a part of the optic nerve known as the optic disk); various problems using or understanding language (aphasia); abnormal sensations such as numbness, tingling, or spontaneous pain (paresthesia or dysesthesia); memory deficits; and mental confusion, hallucinations, or dementia. Researchers have recently uncovered evidence that AVMs may also cause subtle learning or behavioral disorders in some people during their childhood or adolescence, long before more obvious symptoms become evident.

One of the more distinctive signs indicating the presence of an AVM is an auditory phenomenon called a bruit, coined from the French word meaning noise. (A sign is a physical effect observable by a physician, but not by a patient.) Doctors use this term to describe the rhythmic, whooshing sound caused by excessively rapid blood flow through the arteries and veins of an AVM. The sound is similar to that made by a torrent of water rushing through a narrow pipe. A bruit can sometimes become a symptom—that is, an effect experienced by a patient—when it is especially severe. When audible to patients, the bruit may compromise hearing, disturb sleep, or cause significant psychological distress.

Symptoms caused by AVMs can appear at any age, but because these abnormalities tend to result from a slow buildup of neurological damage over time they are most often noticed when people are in their twenties, thirties, or forties. If AVMs do not become symptomatic by the time people reach their late forties or early fifties, they tend to remain stable and rarely produce symptoms. In women, pregnancy sometimes causes a sudden onset or worsening of symptoms, due to accompanying cardiovascular changes, especially increases in blood volume and blood pressure.

In contrast to the vast majority of neurological AVMs, one especially severe type causes symptoms to appear at, or very soon after, birth. Called a vein of Galen defect after the major blood vessel involved, this lesion is located deep inside the brain. It is frequently associated with hydrocephalus (an accumulation of fluid within certain spaces in the brain, often with visible enlargement of the head), swollen veins visible on the scalp, seizures, failure to thrive, and congestive heart failure. Children born with this condition who survive past infancy often remain developmentally impaired.
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How do AVMs damage the brain and spinal cord?

AVMs become symptomatic only when the damage they cause to the brain or spinal cord reaches a critical level. This is one of the reasons why a relatively small fraction of people with these lesions experiences significant health problems related to the condition. AVMs damage the brain or spinal cord through three basic mechanisms: by reducing the amount of oxygen reaching neurological tissues; by causing bleeding (hemorrhage) into surrounding tissues; and by compressing or displacing parts of the brain or spinal cord.

AVMs compromise oxygen delivery to the brain or spinal cord by altering normal patterns of blood flow. Arteries and veins are normally interconnected by a series of progressively smaller blood vessels that control and slow the rate of blood flow. Oxygen delivery to surrounding tissues takes place through the thin, porous walls of the smallest of these interconnecting vessels, known as capillaries, where the blood flows most slowly. The arteries and veins that make up AVMs, however, lack this intervening capillary network. Instead, arteries dump blood directly into veins through a passageway called a fistula. The flow rate is uncontrolled and extremely rapid—too rapid to allow oxygen to be dispersed to surrounding tissues. When starved of normal amounts of oxygen, the cells that make up these tissues begin to deteriorate, sometimes dying off completely.

This abnormally rapid rate of blood flow frequently causes blood pressure inside the vessels located in the central portion of an AVM directly adjacent to the fistula—an area doctors refer to as the nidus, from the Latin word for nest—to rise to dangerously high levels. The arteries feeding blood into the AVM often become swollen and distorted; the veins that drain blood away from it often become abnormally constricted (a condition called stenosis). Moreover, the walls of the involved arteries and veins are often abnormally thin and weak. Aneurysms—balloon-like bulges in blood vessel walls that are susceptible to rupture—may develop in association with approximately half of all neurological AVMs due to this structural weakness.

Bleeding can result from this combination of high internal pressure and vessel wall weakness. Such hemorrhages are often microscopic in size, causing limited damage and few significant symptoms. Even many nonsymptomatic AVMs show evidence of past bleeding. But massive hemorrhages can occur if the physical stresses caused by extremely high blood pressure, rapid blood flow rates, and vessel wall weakness are great enough. If a large enough volume of blood escapes from a ruptured AVM into the surrounding brain, the result can be a catastrophic stroke. AVMs account for approximately 2 percent of all hemorrhagic strokes that occur each year.

Even in the absence of bleeding or significant oxygen depletion, large AVMs can damage the brain or spinal cord simply by their presence. They can range in size from a fraction of an inch to more than 2.5 inches in diameter, depending on the number and size of the blood vessels making up the lesion. The larger the lesion, the greater the amount of pressure it exerts on surrounding brain or spinal cord structures. The largest lesions may compress several inches of the spinal cord or distort the shape of an entire hemisphere of the brain. Such massive AVMs can constrict the flow of cerebrospinal fluid—a clear liquid that normally nourishes and protects the brain and spinal cord—by distorting or closing the passageways and open chambers (ventricles) inside the brain that allow this fluid to circulate freely. As cerebrospinal fluid accumulates, hydrocephalus results. This fluid buildup further increases the amount of pressure on fragile neurological structures, adding to the damage caused by the AVM itself.
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Where do neurological AVMs tend to form?

AVMs can form virtually anywhere in the brain or spinal cord—wherever arteries and veins exist. Some are formed from blood vessels located in the dura mater or in the pia mater, the outermost and innermost, respectively, of the three membranes surrounding the brain and spinal cord. (The third membrane, called the arachnoid, lacks blood vessels.) AVMs affecting the spinal cord are of two types, AVMs of the dura mater, which affect the function of the spinal cord by transmitting excess pressure to the venous system of the spinal cord, and AVMs of the spinal cord itself, which affect the function of the spinal cord by hemorrhage, by reducing blood flow to the spinal cord, or by causing excess venous pressure. Spinal AVMs frequently cause attacks of sudden, severe back pain, often concentrated at the roots of nerve fibers where they exit the vertebrae; the pain is similar to that caused by a slipped disk. These lesions also can cause sensory disturbances, muscle weakness, or paralysis in the parts of the body served by the spinal cord or the damaged nerve fibers. Spinal cord injury by the AVM by either of the mechanisms described above can lead to degeneration of the nerve fibers within the spinal cord below the level of the lesion, causing widespread paralysis in parts of the body controlled by those nerve fibers.

Dural and pial AVMs can appear anywhere on the surface of the brain. Those located on the surface of the cerebral hemispheres—the uppermost portions of the brain—exert pressure on the cerebral cortex, the brain’s “gray matter.” Depending on their location, these AVMs may damage portions of the cerebral cortex involved with thinking, speaking, understanding language, hearing, taste, touch, or initiating and controlling voluntary movements. AVMs located on the frontal lobe close to the optic nerve or on the occipital lobe, the rear portion of the cerebrum where images are processed, may cause a variety of visual disturbances.

AVMs also can form from blood vessels located deep inside the interior of the cerebrum. These AVMs may compromise the functions of three vital structures: the thalamus, which transmits nerve signals between the spinal cord and upper regions of the brain; the basal ganglia surrounding the thalamus, which coordinate complex movements; and the hippocampus, which plays a major role in memory.

AVMs can affect other parts of the brain besides the cerebrum. The hindbrain is formed from two major structures: the cerebellum, which is nestled under the rear portion of the cerebrum, and the brainstem, which serves as the bridge linking the upper portions of the brain with the spinal cord. These structures control finely coordinated movements, maintain balance, and regulate some functions of internal organs, including those of the heart and lungs. AVM damage to these parts of the hindbrain can result in dizziness, giddiness, vomiting, a loss of the ability to coordinate complex movements such as walking, or uncontrollable muscle tremors.
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What are the health consequences of AVMs?

The greatest potential danger posed by AVMs is hemorrhage. Researchers believe that each year between 2 and 4 percent of all AVMs hemorrhage. Most episodes of bleeding remain undetected at the time they occur because they are not severe enough to cause significant neurological damage. But massive, even fatal, bleeding episodes do occur. The present state of knowledge does not permit doctors to predict whether or not any particular person with an AVM will suffer an extensive hemorrhage. The lesions can remain stable or can suddenly begin to grow. In a few cases, they have been observed to regress spontaneously. Whenever an AVM is detected, the individual should be carefully and consistently monitored for any signs of instability that may indicate an increased risk of hemorrhage.

A few physical characteristics appear to indicate a greater-than-usual likelihood of clinically significant hemorrhage. Smaller AVMs have a greater likelihood of bleeding than do larger ones. Impaired drainage by unusually narrow or deeply situated veins also increases the chances of hemorrhage. Pregnancy also appears to increase the likelihood of clinically significant hemorrhage, mainly because of increases in blood pressure and blood volume. Finally, AVMs that have hemorrhaged once are about nine times more likely to bleed again during the first year after the initial hemorrhage than are lesions that have never bled.

The damaging effects of a hemorrhage are related to lesion location. Bleeding from AVMs located deep inside the interior tissues, or parenchyma, of the brain typically causes more severe neurological damage than does hemorrhage by lesions that have formed in the dural or pial membranes or on the surface of the brain or spinal cord. (Deeply located bleeding is usually referred to as an intracerebral or parenchymal hemorrhage; bleeding within the membranes or on the surface of the brain is known as subdural or subarachnoid hemorrhage.) Thus, location is an important factor to consider when weighing the relative risks of surgical versus non-surgical treatment of AVMs.