Cerebral Cavernous Malformation

What is cerebral cavernous malformation?

Cerebral cavernous malformations (CCMs) are collections of small blood vessels (capillaries), usually in the brain, that are enlarged and irregular in structure. These capillaries have walls that are abnormally thin and are prone to leak. They also lack the normal smooth muscle and elastic fibers that make them stretchy. As a result, the vessels become inflated with blood and do not return to their normal size. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the central nervous system (brain and spinal cord). Many patients live their whole life without knowing they have a cerebral cavernous malformation. Other patients can have severe symptoms like seizures, headaches, paralysis, bleeding in the brain (cerebral hemorrhage), and even death. The severity of the symptoms depends on where in the brain or brainstem the cerebral cavernous malformation is located.

Cerebral cavernous malformations can change in size and number over time, but they do not become cancerous.

How common is cerebral cavernous malformation?

Cerebral cavernous malformation affects about 0.5 percent of the population worldwide.

What genes are related to cerebral cavernous malformation?

Mutations in the CCM2, KRIT1, and PDCD10 genes cause cerebral cavernous malformation.

The precise functions of these genes are not fully understood, but most likely they play a role in blood vessel formation (angiogenesis) during embryonic development. They may also play a role in blood vessel maintenance. Researchers have not determined how mutations in these genes can lead to the abnormal capillaries characteristic of cerebral cavernous malformations.

Mutations in these three genes account for 70 to 80 percent of all cases of cerebral cavernous malformations. The remaining 20 to 30 percent of cases may be due to other, still unidentified, genes.

How do people inherit cerebral cavernous malformation?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent.

Most cases of cerebral cavernous malformation result from new mutations in the causative genes, also known as sporadic cases. These cases occur in people with no history of the disorder in their family.

What other names do people use for cerebral cavernous malformation?

• Central Nervous System Cavernous haemangioma
• Cerebral Cavernous haemangioma
• Familial Cavernous haemangioma
• Familial Cavernous Malformation
• Familial Cerebral Cavernous Angioma
• Familial Cerebral Cavernous Malformation