01

A cavernous malformation is a cluster of abnormal, small blood vessels resembling caverns with slow moving blood. Resembling a raspberry, they have thin leaky walls.

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A cavernous malformation is most often found in the brain. In this location, it is referred to as a Cerebral Cavernous Malformation (CCM).

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A cavernous malformation may also be known as a cavernous angioma, or a cavernoma.

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Cavernous malformation is classified as rare by the National Organization for Rare Disorders.

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Approximately 1 in 500 people have at least one cavernous malformation in their brain.

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There is equal prevalence across gender.

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Most people with a cavernous malformation have no symptoms.

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For those with symptoms, the most common is seizure (50%), followed by hemorrhage (25%), and focal neurological deficits (25%) such as blurred or double vision and weakness in limbs.

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In symptomatic patients, there is no typical way that symptoms present themselves. Symptoms may be varied and of different degrees of severity.

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A cavernous malformation is non-cancerous.

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A cavernous malformation can form at any age, including childhood.

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Cavernous malformation is hereditary in about 20% of people who have it.

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Those with the familial (hereditary) form will have more than one cavernous malformation and will develop more lesions over time.

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The familial form of cavernous malformation does not skip generations. Each child of an affected person has a 50/50 chance of inheriting the disease.

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The familial form can be caused by a mutation on any one of three genes: CCM1, CCM2, or CCM3.

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There is no cure for cavernous malformation.

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Currently, surgery is the only treatment for cavernous malformation, though a number of medications and proposed treatment options are currently under investigation.

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A cavernous malformation is most often diagnosed via imaging. Magnetic Resonance Imaging (MRI) with susceptibility-weighted (SWI) sequencing is the gold standard in cavernous malformation diagnostic imaging.

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In an acute setting such as a hospital emergency room, Computed Technology (CT) may be the primary imaging used, to quickly rule our a cavernoma hemorrhage.

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Patients diagnosed with a cavernous malformation may see specialists such as a neurologist, vascular neurosurgeon, dermatologist, geneticist, neuro-opthalmologist and epileptologist. For symptomatic patients, additional health professionals can be involved in care, such as a psychologist, social worker, occupational therapist, physiotherapist, nurse practitioner, and nutritionist.