About Familial cerebral cavernous malformation

What is Familial cerebral cavernous malformation?

Familial cerebral cavernous malformation (CCM) is a genetic disorder that affects the brain and other organs. It is characterized by the formation of abnormal clusters of small, thin-walled blood vessels in the brain and other organs. These clusters can cause a variety of symptoms, including seizures, headaches, stroke, and even death. CCM is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from a parent to be affected.

What are the symptoms of Familial cerebral cavernous malformation?

The symptoms of Familial Cerebral Cavernous Malformation (CCM) can vary depending on the size and location of the malformation. Common symptoms include:

- Seizures
- Headaches
- Weakness or Numbness in the arms or legs
- Vision changes
- Speech difficulties
- Balance problems
- Dizziness
- Memory problems
- Fatigue
- Difficulty concentrating
- Personality changes
- Loss of coordination

What are the causes of Familial cerebral cavernous malformation?

Familial cerebral cavernous malformation (CCM) is caused by mutations in one of three genes: KRIT1, CCM2, or PDCD10. These mutations are inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary for a person to be affected by the disorder.

What are the treatments for Familial cerebral cavernous malformation?

The primary treatment for familial cerebral cavernous malformation (CCM) is surgical removal of the affected blood vessels. This is usually done through a craniotomy, which is a surgical procedure that involves making an incision in the skull to access the brain. Other treatments may include medications to reduce the risk of seizures, medications to reduce the risk of stroke, and physical therapy to help with any physical deficits caused by the condition. In some cases, radiation therapy may be used to reduce the size of the malformation.

What are the risk factors for Familial cerebral cavernous malformation?

1. Family history: Having a family member with a known diagnosis of CCM is the most significant risk factor for developing the condition.

2. Age: The risk of developing CCM increases with age.

3. Gender: Women are more likely to develop CCM than men.

4. Ethnicity: People of Hispanic, African-American, and Asian descent are more likely to develop CCM than those of other ethnicities.

5. Genetic mutations: Certain genetic mutations, such as KRIT1, CCM1, and PDCD10, are associated with an increased risk of developing CCM.

Is there a cure/medications for Familial cerebral cavernous malformation?

There is no cure for familial cerebral cavernous malformation (CCM). However, medications can be used to reduce the risk of complications associated with CCM, such as seizures, stroke, and bleeding. These medications include anticonvulsants, antiplatelet agents, and anticoagulants. Surgery may also be recommended to remove or repair the malformed blood vessels.