Cavernous malformations
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Cerebral cavernous malformations (CCM) are collections of closely packed, abnormally thin-walled capillaries that are commonly found in the brain or in the spinal cord. They are also known as cavernous hemangiomas. The blood within the capillaries is frequently slow or non-moving.
A cerebral cavernous malformation has the appearance of a raspberry. It has blood-filled pockets that are divided by connective tissue. Cavernous malformations can be as small as a fraction of an inch or as large as a coin. Most CCMs develop on their own but it can also be genetically acquired.
CCMs are one type of brain vascular malformation that includes aberrant blood vessels. Additional types of vascular abnormalities are arteriovenous malformations (AVMs), dural arteriovenous fistulas, developmental venous anomaly (DVA), and capillary telangiectasias. A person with a DVA will most likely have a CCM, too.
Some cases of cerebral cavernous malformations can cause problems in the brain or spinal cord due to blood leakage. It can generate stroke-like symptoms depending on where the cavernous malformation is located in a person’s nervous system.
Bleeding in the brain can result in convulsions or a stroke. Bleeding in the spinal cord can cause problems with movement and sensation in the legs and arms, as well as bowel and bladder issues. The treatment for this condition may range from watchful waiting, medication, or surgery depending on the severity of symptoms.
Symptoms
A cavernous malformation may or may not have any symptoms. The symptoms differ for every person. The severity and frequency of symptoms are determined by the size, location, and number of hemangiomas.
Seizures typically happen as an initial symptom when there is a CCM on the brain’s outer surface. When CCMs are detected in the brainstem, basal ganglia, or spinal cord, a wide range of signs and symptoms may also occur. For instance, bleeding in the spinal cord may result in bowel and bladder problems, and difficulty moving or sensation in the legs or arms.
Neurological disorders may either develop or increase over time with recurrent bleeding. While some individuals may never experience these complications, others may encounter them either shortly after the initial bleed or at a much later time.
Common signs and symptoms of CCMs include:
- Seizures
- Intense headaches
- Weakness in the arms or legs
- Numbness
- Difficulty with speech or communication
- Memory and concentration issues
- Balance and walking difficulties
- Blurred vision, double vision, and vision loss
- Facial drooping
- Tinnitus, dizziness, and hearing loss
- Irritability or personality changes
If experiencing any of these signs and symptoms, seeking immediate medical consultation is crucial. It is necessary to visit a doctor promptly to obtain a correct diagnosis and receive appropriate medical intervention.
Causes
Around 20% of cavernous malformations are hereditary. A mutation in any of three genes causes these. Those with a familial history are more likely to have multiple cerebral cavernous malformations. Those who have a genetic relationship are also more prone to develop new cavernous malformations over time. Genetic testing is frequently advised for persons who have MRI evidence of several CCMs in the absence of a DVA and a history of CCMs in the family.
However, majority of the CCMs have no known cause. This is referred to as sporadic form of cavernous malformations. Typically, only one cavernous malformation develops. The sporadic variant is frequently accompanied with a developmental venous abnormality (DVA), which is an aberrant vein that resembles a witch’s broom.
Another known cause of cavernous malformations is radiation therapy to the brain or spine. Radiation to the brain or spinal cord can cause CCMs 2 to 20 years later.
Risk factors
Children will have a 50% chance of inheriting a cavernous malformation if either parent has one. Studies have identified three genetic variations accountable for hereditary cavernous malformations, which have been associated with nearly all familial cases of cavernous malformations. These genes include KRIT1, which is also known as CCM1, CCM2, and PDCD10 which is also known as CCM3.
These genes are hypothesized to cooperate in order to communicate between cells and minimize blood vessel leakage. However, it is unclear why these mutations result in CCM. The genetic form of the condition can cause multiple cavernous malformations to occur initially and also increase in number over time.
Diagnosis
Cerebral cavernous malformations are often undetected until they rupture and cause symptoms such as stroke or seizures. Nevertheless, some individuals may never display any symptoms and only receive a diagnosis after a brain scan for an unrelated reason. Confirming the diagnosis may require the doctor to request several tests.
Diagnostic imaging examinations may be performed to detect abnormalities in the blood vessels. Depending on the reason for the suspicion, the doctor may require tests to confirm CCMs or to detect or rule out other similar disorders. The testing can also determine if there is bleeding or if there are new CCMs.
- Magnetic resonance imaging (MRI): This test is used to detect cavernous malformations. Susceptibility weighted imaging (SWI), a more advanced type of MRI can detect even the smallest cavernous malformations, as well as leftovers of previous bleeds or edema around the lesion. Injecting a contrast dye into a vein in the arm can produce brain tissue images with a slightly different perspective, or generate images of blood vessels in the brain using techniques such as magnetic resonance angiography or magnetic resonance venography.
- Genetic testing: Genetic counseling and testing can aid in identifying changes in genes or chromosomes that are associated with CCMs. This is particularly recommended for individuals with a family history of the disease.
Treatment
The treatment for CCMs is determined by the location of the cavernous malformations in the brain and whether or not they have bled and are generating uncontrollable symptoms. Doctors who specialize in brain and nervous system conditions, typically treat this condition and other neurological disorders.
Common treatments for CCMs may include:
- Observation. If the cavernous malformation is not causing symptoms or have not bled, the doctor may only want to keep an eye on it through regular brain scans. The neurologist will determine how frequently patients should undergo MRI scans to monitor the lesions. Patients may be advised to be vigilant with monitoring changes on symptoms.
- Medications. When the cavernous malformation causes symptoms, doctors may initially try medications to manage them. Specific drugs may be prescribed to alleviate symptoms such as headaches and seizures. However, some anti-seizure medications are not recommended for pregnant women.
- Counseling. The key to managing the disease properly is having experienced counselors to help patients cope with stress and worry. The doctor will discuss various medical issues that may affect a CCM, including lifestyle variables and drugs that may impact a CCM.
- Surgery. For CCMs with symptoms, the main treatment option is surgery to remove the cavernous malformation, especially when the patient had one or more instances of symptomatic bleeding, has developed neurologic issues, or have seizures that cannot be managed with medication. Whether removing the malformation is less disruptive to the brain tissue than the risk of further bleeds will be evaluated by the neurosurgeon.
To prepare for the surgery, the doctor may order a functional MRI, which can monitor blood flow in active regions of the brain. Another technique that may be used is tractography, which can provide a precise mapping of the brain to enhance the success of the surgery.
Generally, the prognosis of cerebral cavernous malformations is determined by a variety of factors, such as their size, growth, and whether or not they induce symptoms.
Potential future treatments
Several drugs are currently under investigation in clinical studies to determine if they can lower the risk of further bleeding without surgery. Various imaging technologies also show potential in enhancing disease prediction and providing more information about an individual’s specific condition. These include quantitative susceptibility mapping (QSM) imaging and permeability imaging with dynamic contrast-enhanced MRI. Relevant clinical trials that are accessible may be discussed with the doctor.
