Cerebral cavernous malformation

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at October 3, 2016
StartDiseasesCerebral cavernous malformation

When an individual has a cerebral cavernous malformation (CCM), there is a gathering of small blood vessels (or capillaries) found in the central nervous system, which are irregular and enlarged. With cerebral cavernous malformations, the capillary walls are thinner than they should be and are susceptible to leakage. Due to cerebral cavernous malformation being a disorder which affects the brain and central nervous system, the symptoms can be severe. However, nearly 25% of all people afflicted with this disorder do not suffer from any symptoms.

Contents

Definition & Facts

Cerebral cavernous malformations are vascular lesions. When the thin, rigid walled blood vessels associated with cerebral cavernous malformation become irregularly large, they press against tissue in the brain and the spinal cord which causes a range of negative effects.

Because these tightly packed blood vessels are prone to bleeding they are likely to create a hematoma that presses against the brain or spinal cord as well. The size of cerebral cavernous malformations varies from fractions of an inch to several inches in diameter, and the symptoms will vary with the ranging sizes.

CCM can be genetic. Cerebral cavernous malformation does not prefer men or women and is inherited through autosomal dominant inheritance. The genes associated with this disorder are instrumental in the development and function of blood vessels. 

Symptoms & Complaints

Cerebral cavernous malformations can be an especially dangerous disorder. Due to the tendency of the growths to occur around the brain or at the end of the spinal cord, patients are likely to suffer severe symptoms.

Symptoms may include a wide array of difficulties such as headaches, weakened limbs, memory loss, difficulties with balance, paralysis, speech problems, hearing loss, vision loss, skin lesions, seizures and hemorrhagic stroke.

If there is a mutation in the gene, CCM3, the disorder is more aggressive and more likely to be found at a younger age. Children diagnosed with CCM3 are more likely to develop skin lesions, scoliosis, brain tumors that are benign, or cognitive disabilities.

Causes

There are two types of cerebral cavernous malformations known as sporadic and familial. Sporadic cerebral cavernous malformations seem to occur for no apparent reason and are not passed from one generation to the next (that is, they are idiopathic). The sporadic type of this disorder tends to only cause one cavernous malformation unlike the familial version. Though sporadic CCM is less likely to cause multiple cavernous malformations, those suffering from it are still susceptible to severe symptoms.

Familial cerebral cavernous malformations are passed from one generation to the next. Familial CCM does not skip generations of family and is not recessive. Those with familial CCMs are more likely to develop more than one cerebral cavernous malformation.

The genetic mutations associated with familial cerebral cavernous malformations are known as CCM1, CCM2, and CCM3. These genes affect the production of proteins that keep cells intact and prevent blood vessels from leaking.

Diagnosis & Tests

Diagnosis involves a physical examination and intake of family history and medical history. Neurological examinations are necessary to test motor and sensory responses, reflexes, hearing, vision, and cognition.

Genetic testing does not necessarily help doctors in diagnosing cerebral cavernous malformations because the only genetic abnormalities are those that are associated with the growths. The genes that cause sporadic cerebral cavernous malformations are not present in blood and will not be visible in genetic testing. If a person has no family history of this disorder, then genetic testing will be of little use.

To be diagnosed with a CCM disorder, it is now common practice that a doctor give the patient a magnetic resonance imaging (MRI). An MRI is the easiest way for doctors to see the mutated blood vessels. Computed tomography (CT) scans are unlikely to show any sign of the mutated blood vessels unless a person has recently bled from them. 

Treatment & Therapy

Currently, there are very few options for those who suffer from cerebral cavernous malformations aside from surgery. There are currently no drug treatments to aid those with CCM. However, there are a few different potential treatments at the beginning of the test stages that look promising.

The drug Fasudil is proven to shrink the size of the deformed blood vessels, yet the FDA has not currently approved its use in America for this purpose. Research is currently being conducted upon several drugs that are attempting to manipulate the way CCM genes are signaled.

Unfortunately, surgery is currently the only method of treatment for cerebral cavernous malformations.

There are several risk factors to think about when considering neurosurgery, so one should be certain and discuss all options with the doctor and loved ones before proceeding. Neurosurgery can have side effects such as stroke, coma, paralysis, and death.

Due to the location of some of these malformations some surgeries may be far more dangerous than others. Surgeries closer to the spinal cord and brainstem are more likely to have complication but may be more necessary because the malformations may be more likely to cause problems for the patient.

Prevention & Prophylaxis

Unfortunately, there are currently no preventative measures for cerebral cavernous malformations. If a person has a family history of this disorder, he or she may wish to be tested to make sure that they do not have any malformed blood vessels.