Cavernous angioma

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at November 19, 2016
StartDiseasesCavernous angioma

Cavernous angioma is an abnormality of the blood vessels which is characterized by large capillaries adjacent to each other. Blood flow through the vessels is slowed. This disease can occur anywhere in the central nervous system. This is a relatively rare disease and occurs at 0.4 percent of the population. Of those affected by cavernous angioma, 18.7 percent of them have multiple lesions.

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Definition & Facts

Cavernous angiomas or hemangiomas are vascular lesions that are composed of abnormally dilated blood vessels. While most commonly occurring in the brain or spinal cord, these lesions can be found in the skin or the retina. Each angioma is filled with blood and lined with endothelial cells. Cavernous angiomas can develop at any age, but it is more common in children or in individuals in their 20's and 30's. 

Cavernous angiomas occur when there are defects in the endothelial cells; structural integrity is compromised, and a large lesion is formed resulting in abnormal vessel walls. They are described to be red or purple in color and usually looking similar to a raspberry. Lesions may vary in size from microscopic to several inches in diameter.

Symptoms & Complaints

Symptoms of cavernous angiomas can appear in various ways including seizures, stroke symptoms, hemorrhages, and headaches. Compression of surrounding brain tissue, can result from a cavernous angioma. This can cause double vision (diplopia), weakness, numbness, visual disturbances, or language difficulties.

Symptoms may also include balance problems, memory or attention problems, and other visual problems. Cavernous angiomas can change in size due to bleeding and the reabsorption of the blood, so the symptoms initiated from the lesion can come and go with the growth and loss of size.

Of those affected that suffer from seizures, there can be multiple cavernous malformations found in their brains and any one of them could be the problem that is causing the epileptic fits. It can be very difficult to pinpoint which lesion in the brain is the one to blame for the seizures, making the choice of surgery difficult as well.

A hemorrhagic stroke can be the result of a cavernous angioma. This is generally noted in about 25 percent of those suffering from a cavernous angioma. If it does begin to bleed, this usually starts with a headache, which is then followed by nausea, neurological problems, and a loss of consciousness. If the bleed is small and slow enough, mild symptoms or no symptoms at all can be recorded. About 11 percent of those with cavernous angiomas do not develop symptoms from them. 

Causes

This disorder can be caused by sporadic genetic mutations or mutated genes that are inherited. There are three genes, CCM1 gene, CCM2 gene, and CCM3 gene, that have been discovered to control the functions of the development and maintenance of healthy blood vessels. A mutation on one of these three genes can cause the creation of cavernous angiomas in the brain.

Familial gene mutations are attributed for up to 20 percent of all cases of lesions. People with sporadic CCM mutations typically have only one lesion. These types of lesions are found in males and females in equal quantities and any ethnicity can be at risk for them. 

Diagnosis & Tests

Cavernous angiomas are considered a subtype of lesions known as angiographically occult vascular malformations. This means that these types of lesions are not visible from the use of an angiogram because the blood flows through them so slowly. 

A magnetic resonance imaging (MRI) scan is considered to be the standard for diagnosing these types of brain lesions. Genetic testing can then be done to confirm the presence of genetic mutations. This can be a useful option for those affected that want to determine if any other member's of their family could be affected by cavernous angiomas. Computed tomography (CT) scans may also be performed to help diagnose a cavernous malformation.

Treatment & Therapy

At this time, there are no drug treatment options to treat cavernous angiomas. Most malformations are closely observed to see if they increase in size. Medications are available to treat the symptoms of the lesion, specifically for any seizures or headaches caused by them. If the lesion is not causing seizures and is not in a dangerous place, like the spinal cord or brainstem, it can be recommended to leave the lesion untreated. 

Surgery is usually recommended to treat the lesion in the brain, but this is evaluated on a case to case basis. Lesions that are causing seizures are usually recommended for surgical removal. The surgery can comprise of radiosurgery by gamma knife, a linear accelerator, or a beam technique have been used to treat cavernous angiomas that were too complicated to use traditional surgery methods.

Any type of surgery on a cavernous angioma comes with risks, including stroke, paralysis, coma, or death. A neurosurgeon would perform surgery and lesions on the brainstem or the spinal cord are more dangerous than those found in the brain, but they can cause more problems if they are left alone. Recovery from surgery is a process, especially for any patients that have suffered from neurological deficits beforehand.

Research is currently being done to explore a non-surgical treatment for a cavernous angioma which would be able to signal the proteins involved in blood vessel wall maintenance to encourage them to function at a more efficient rate. These types of treatments try to treat the vasodilation that comes from the angiomas. 

Prevention & Prophylaxis

Currently, there are no preventative approaches to prevent a cavernous angioma. With more research concerning the genes, prevention could one day become possible. Prenatal genetic testing are options for families with a family history of cavernous malformations.