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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: