Cavernous Malformations

Facts about cavernous malformations

Cavernous malformations probably form before or shortly after birth. Some may seem to appear and disappear over time on follow-up MRI scans.

In approximately 20% of cases, the condition is caused by an inherited gene mutation. In other cases, they appear without a family history.

Symptoms

Symptoms of cavernous malformations depend on the location and size of the malformation. Most people who have symptoms are between 20 and 50 years old. Sometimes children have symptoms.

These are physical symptoms:

• Headaches

• Seizures

• Changes in hearing or vision

• Weakness

• Balance problems

• Paralysis

• Trouble thinking clearly or with remembering things

Complications include:

• Stroke (hemorrhage or bleeding type)

• Seizure

• Death

When to call the healthcare provider

Many people only find out they have a cavernous malformation when it bleeds. This causes stroke in some people. If you notice symptoms, such as seizure, severe headache, numbness, vomiting associated with headache, or physical weakness, go immediately to the emergency room or call 911 to get help.

Diagnosis

Healthcare providers will ask about your health history and do a physical exam. The final diagnosis is usually made based on imaging tests that show areas of blood flow. These tests could include:

• MRI scan

• Electroencephalogram

• CT scan

• Blood tests

• Gene testing in some clinics

Treatment

A treatment plan could include:

• Medicine for symptoms, such as antiepileptic medicines for seizures

• Surgery to remove the blood vessels

• MRI scans every year for 2 years then every 5 years if no symptoms are present

Prevention

Currently, cavernous malformations can’t be prevented. Researchers hope that by learning more about the genes linked to these growths, prevention could become possible. Prenatal genetic testing and counseling are choices for the first person in a family with multiple cavernous malformations or for relatives of those with a family history.