Cavernous malformations

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.