Information for Patients and Families
Familial Cavernous Malformations (CCM) - Common Hispanic Mutation
What is Familial Cavernous Malformations (CCM)?
Cerebral Cavernous Malformations, also termed Cavernous Angioma and Cavernoma, is a disorder that affects the vascular system (blood vessels) by causing vascular malformations in the brain and spine. Individuals affected by CCM may experience a variety of symptoms ranging from headaches to neurological deficits, seizures and/or stroke.
Some people with CCM have no symptoms, while others may have serious symptoms such as seizures (most commonly), headaches, paralysis, hearing or vision changes, and bleeding in the brain (cerebral hemorrhage). Not every one with CCM is affected in the same way. Some patients have mild disease, while others may have severe bleeding in the brain, which can be life-threatening.
The two types of CCM are familial (inherited) and sporadic (occurring for no clear reason).
Who gets Familial Cavernous Malformations (CCM)?
Approximately 0.5 percent of the general population is affected by cerebral cavernous malformations. CCM occurs in both men and women and can affect children and adults.
What causes Familial Cavernous Malformations (CCM)?
CCM may be inherited due to mutations in one of three genes, CCM1, CCM2, or CCM3 – individuals with this inherited form typically have multiple CCM lesions. Alternatively, single lesions are often seen in patients with the sporadic (non - genetic) form of CCM.
How is Familial Cavernous Malformations (CCM) Diagnosed?
Magnetic Resonance Imaging (MRI) is used to detect CCM lesions and diagnose the illness. Alternatively, genetic testing is available to diagnose the inherited form of CCM.
What is the treatment for Familial Cavernous Malformations (CCM)?
Treatment for Cerebral Cavernous Malformations often varies depending on symptoms.
Treatment plans may include:
- Observation. Doctors monitor the cavernous malformation with yearly MRI (magnetic resonance imaging) scans to see if the malformation changes. This is typically the case when the malformation is found during tests for other conditions and isn't causing problems.
- Medication. If the CCM causes symptoms, medication for the specific symptom may be used. For example, Seizures are usually treated with antiepileptic drugs.
- Surgery. If the CCM is causing symptoms and is in a location that can be reached surgically, surgery may be recommended.
- Stereotactic radiosurgery. Doctors may use stereotactic radiosurgery (targeted radiation) to treat malformations causing symptoms and that are located in areas of the brain that can't be treated with surgery. This may decrease the repeat hemorrhage rate. However, radiosurgery hasn't been shown to completely eliminate malformations.