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Arteriovenous malformation

Arteriovenous malformation or AVM is a congenital disorder of the veins and arteries that make up the vascular system . The cause of this disorder is unknown, but is not generally thought to be hereditary, unless in the context of a specific hereditary syndrome. more...

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Arteries and veins are part of the human cardiovascular system. Normally, the arteries in the vascular system carry oxygen-rich blood at a relatively high pressure. Structurally, arteries divide and sub-divide repeatedly, eventually forming a sponge-like capillary bed. Blood moves through the capillaries, giving up oxygen and taking up waste products from the surrounding cells. Capillaries successively join together, one upon the other, to form the veins that carry blood away at a relatively low pressure. The heart acts to pump blood from the low pressure veins to the high pressure arteries.

If the capillary bed is thought of as a sponge, then an AVM is the rough equivalent of jamming a tangle of flexible soda straws from artery to vein through that sponge. On arteriorgram films AVM formation often resemble a tangle of spaghetti noodles. This tangle of blood vessels forms a relatively direct connection between high pressure arteries and low pressure veins.

The result is a collection of blood vessels with abnormal connections and without capillaries. This collection, often called a nidus, can be extremely fragile and prone to bleeding. AVMs can occur in various parts of the body including the brain (see cerebral arteriovenous malformation), spleen, lung, kidney and liver. AVMs may occur in isolation or as a part of another disease (e.g. von Hippel-Lindau disease or Rendu-Osler-Weber syndrome).

This bleeding can be devasting, particularly in the brain. They can cause severe and often fatal strokes. If detected before the stroke occurs, usually the arteries feeding blood into the nidus can be closed off, ensuring the safety of the patient.

Fiction

This condition affected the character of Nate in the US TV series Six Feet Under.

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Arteriovenous malformations
From Gale Encyclopedia of Medicine, 4/6/01 by Julia Barrett

Definition

Arteriovenous malformations are blood vessel defects that occur before birth when the fetus is growing in the uterus (prenatal development). The blood vessels appear as a tangled mass of arteries and veins. They do not possess the capillary (very fine blood vessels) bed which normally exists in the common area where the arteries and veins lie in close proximity (artery-vein interface). An arteriovenous malformation (AVM) may hemorrhage, or bleed, leading to serious complications that can be life-threatening.

Description

AVMs represent an abnormal interface between arteries and veins. Normally, arteries carry oxygenated blood to the body's tissues through progressively smaller blood vessels. The smallest are capillaries, which form a web of blood vessels (the capillary bed) through the body's tissues. The arterial blood moves through tissues by these tiny pathways, exchanging its load of oxygen and nutrients for carbon dioxide and other waste products produced by the body cells (cellular wastes). The blood is carried away by progressively larger blood vessels, the veins. AVMs lack a capillary bed and arterial blood is moved (shunted) directly from the arteries into the veins.

AVMs can occur anywhere in the body and have been found in the arms, hands, legs, feet, lungs, heart, liver, and kidneys. However, 50% of these malformations are located in the brain, brainstem, and spinal cord. Owing to the possibility of hemorrhaging, such AVMs carry the risk of stroke, paralysis, and the loss of speech, memory, or vision. An AVM that hemorrhages can be fatal.

Approximately three of every 100,000 people have a cerebral AVM and roughly 40-80% of them will experience some bleeding from the abnormal blood vessels at some point. The annual risk of an AVM bleeding is estimated at about 1-4%. After age 55, the risk of bleeding decreases. Pre-existing high blood pressure or intense physical activity do not seem to be associated with AVM hemorrhage, but pregnancy and labor could cause a rupture or breaking open of a blood vessel. An AVM hemorrhage is not as dangerous as an aneurysmal rupture. (An aneurysm is a swollen, blood filled vessel where the pressure of the blood causes the wall to bulge outward.) There is an approximate 10% fatality rate associated with AVM hemorrhage, compared to a 50% fatality rate for ruptured aneurysms.

Although AVMs are congenital defects, meaning a person is born with them, they are rarely discovered before age 20. A genetic link has been proposed for some AVMs, but studies are only suggestive, not positive. The majority of AVMs are discovered in people age 20-40. Medical researchers estimate that the malformations are created during days 45-60 of fetal development. A second theory suggests that AVMs are primitive structures that are left over from the period when fetal blood circulating systems began to develop.

However they form, AVMs have blood vessels that are abnormally fragile. The arteries that feed into the malformation are unusually swollen and thin walled. They lack the usual amount of smooth muscle tissue and elastin, a fibrous connective tissue. These blood vessels commonly accumulate deposits of calcium salts and hyalin. The venous part of the malformation receives blood directly from the artery. Without the intervening capillary bed, the veins receive blood at a higher pressure than they were designed to handle. This part of the malformation is also swollen (dilated) and thin walled. There is a measurable risk of an aneurysm forming near an AVM, increasing the threat of hemorrhage, brain damage, and death. Approximately 10-15% of AVMs are accompanied by saccular aneurysms, a type of aneurysm that looks like a small sac attached to the outer wall of the blood vessel.

Although the malformation itself lacks capillaries, there is often an abnormal proliferation of capillaries next to the defect. These blood vessels feed into the malformation, causing it to grow larger in some cases. As the AVM receives more blood through this "steal," adjacent brain tissue does not receive enough. These areas show abnormal nerve cell growth, cell death, and deposits of calcium in that area (calcification). Nerve cells within the malformation may demonstrate abnormal growth and are believed to be nonfunctional.

Causes & symptoms

Most people do not realize that they have an AVM unless it hemorrhages enough to produce symptoms. Small AVMs are more likely to hemorrhage. If a hemorrhage occurs, it produces a sudden, severe headache. The headache may be focused in one specific area or it may be more general. It can be mistaken for a migraine in some cases. The headache is accompanied by other symptoms, such as vomiting, a stiff neck, sleepiness, lethargy, confusion, irritability, or weakness anywhere in the body. Seizures occur in about a quarter of AVM cases. A person may experience decreased, double, or blurred vision. Hemorrhaging from an AVM is generally less dangerous than hemorrhaging from an aneurysm, with a survival rate of 80-90%.

Other symptoms occur less frequently, but sometimes appear alongside major symptoms such as the sudden severe headache. Additional warning signs of a bleeding AVM are impaired speech or smell, fainting, facial paralysis, a drooping eyelid, dizziness, and ringing or buzzing in the ears.

Although large AVMs are less likely to hemorrhage, they can induce symptoms based on their mass alone. Large AVMs exert pressure against brain tissue, cause abnormal development in the surrounding brain tissue, and slow down or block blood flow. Hydrocephalus, a swelling of brain tissue caused by accumulated fluids, may develop. The warning signs associated with a large non-bleeding AVM are similar to the symptoms of a small malformation that is bleeding. Unexplained headaches, seizures, dizziness, and neurological symptoms, such as sensory changes, are signals that demand medical attention.

Diagnosis

Based on the clinical symptoms such as severe headache and neurological problems, and after a complete neurologic exam, a computed tomography scan (CT) of the head will be done. In some cases, a whooshing sound from arteries in the neck or over the eye or jaw (called a bruit), can be heard with a stethoscope. The CT scan will reveal whether there has been bleeding in the brain and can identify AVMs larger than 1 inch. Magnetic resonance imaging (MRI) is also used to identify an AVM. A lumbar puncture, or spinal tap, may follow the MRI or CT scan. A lumbar puncture involves removing a small amount of cerebrospinal fluid from the lower part of the spine. Blood cells or blood breakdown products in the cerebrospinal fluid indicate bleeding.

To pinpoint where the blood is coming from, a cerebral angiography is done. This procedure uses x rays to map out the blood vessels in the brain, including the vessels that feed into the malformation. The information gained from angiography complements the MRI and helps distinguish the precise location of the AVM.

Treatment

Neurosurgeons consider several factors before deciding on a treatment option. There is some debate over whether or not to treat AVMs that have not ruptured and are not causing any symptoms. The risks and benefits of proceeding with treatment need to be measured on an individual basis, taking into account factors such as the person's age and general health, as well as the AVM's size and location. Several treatment options are available, both for symptomatic or asymptomatic AVMs. These treatment options may be used alone or in combination.

Surgery

Removing the AVM is the surest way of preventing it from causing future problems. Both small and large AVMs can be handled in surgery. Surgery is recommended for superficial AVMs, but may be too dangerous for deep or very large AVMs. Unless it is an emergency situation, an AVM that has hemorrhaged is treated conservatively for several weeks. Conservative treatment consists of managing the immediate symptoms and allowing the patient's condition to stabilize. Surgery requires general anesthesia and a longer period of recuperation than any other treatment option.

Radiation

Radiation is particularly useful to treat small (under 1 in) malformations that are deep within the brain. Ionizing radiation is directed at the malformation, destroying the AVM without damaging the surrounding tissue. Radiation treatment is accomplished in a single session and it is not necessary to open the skull. However, success can only be measured over the course of the following two years. A year after the procedure, 50-75% of treated AVMs are completely blocked; two years after radiation treatment, the percentage increases to 85-95%.

Embolization

Embolization involves plugging up access to the malformation. This technique does not require opening the skull to expose the brain and can be used to treat deep AVMs. Using x-ray images as a guide, a catheter is threaded through the artery in the thigh (femoral artery) to the affected area. The patient remains awake during the procedure and medications can be administered to prevent discomfort. The blood vessel leading into the AVM is assessed for its importance to the rest of the brain before a balloon or other blocking agent is inserted via the catheter. The block chokes off the blood supply to the malformation. There may be a mild headache or nausea associated with the procedure, but patients may resume normal activities after leaving the hospital. At least 2-3 embolization procedures are usually necessary at intervals of 2-6 weeks. At least a three-day hospital stay is associated with each embolization.

Prognosis

Approximately 10% of AVM cases are fatal. Seizures and neurological changes may be permanent in another 10-30% cases of AVM rupture. If an AVM bleeds once, it is about 20% likely to bleed again in the next year. As time passes from the initial hemorrhage, the risk for further bleeding drops to about 3-4%. If the AVM has not bled, it is possible, but not guaranteed, that it never will. Untreated AVMs can grow larger over time and rarely go away by themselves. Once an AVM is removed and a person has recovered from the procedure, there should be no further symptoms associated with that malformation.

Key Terms

Aneurysm
A weak point in a blood vessel where the pressure of the blood causes the vessel wall to bulge outwards.
Angiography
A mapping of the brain's blood vessels, using x-ray imaging.
Capillary bed
A dense network of tiny blood vessels that enables blood to fill a tissue or organ.
Hydrocephalus
Swelling of the brain caused by an accumulation of fluid.
Lumbar puncture
A diagnostic procedure in which a needle is inserted into the lower spine to withdraw a small amount of cerebrospinal fluid. This fluid is examined to assess trauma to the brain.
Saccular aneurysm
A type of aneurysm that resembles a small sack of blood attached to the outer surface of a blood vessel by a thin neck.

Further Reading

For Your Information

    Books

  • Camarate, P. J., and R. C. Heros. "Arteriovenous Malformations of the Brain." In Neurological Surgery, vol 2. Philadelphia: W. B. Saunders, 1996.

    Periodicals

  • Henning, Mast. "Risk of Spontaneous Hemorrhage after Diagnosis of Cerebral Arteriovenous Malformation." The Lancet, 350 (October 11, 1997): 1065.

    Organizations

  • American Chronic Pain Association. P.O. Box 850, Rocklin, CA 95677. (916)632- 0922.
  • Arteriovenous Malformation Support Group. 168 Six Mile Canyon Road, Dayton, NV 89403. (702) 246-0682.
  • National Chronic Pain Outreach Association, Inc. P.O. Box 274, Millboro, VA 24460. (540) 997-5004.

Gale Encyclopedia of Medicine. Gale Research, 1999.

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