If you have multiple cavernous malformations (CCMs), and/or family history of CCMs, consider talking to your doctor about genetic testing.
Knowing the specific genetic cause of your multiple CCMs may help guide your medical care
After the genetic cause of CCMs in your family is identified, other family members can choose to have genetic testing. This testing can show whether they have the same genetic change linked to CCM. Knowing this can help doctors diagnose familial CCM and guide care.
Researchers are also beginning to identify lifestyle changes that may lower the chance of developing new lesions and reduce disease risk. Starting a CCM-healthy lifestyle may make a difference over time.
Genetic testing is a personal decision. There are special considerations for people who do not yet show any signs of familial CCM who are interested in genetic testing. For example, children or adults who have not had a brain MRI to determine if they have CCMs.
Family members who do not carry the genetic change linked to CCM are unlikely to have a higher risk of CCM than the general population.
Help advance cavernous malformation research
Researchers have begun studying new treatments for cavernous malformation through clinical research and clinical trials. These studies depend on volunteers from the patient community. To move this research forward, we need a well-organized group of patients who are willing to participate.
To stay informed about research opportunities, you can register with the CCM Patient Registry. This online registry connects patients with researchers. After creating an account, you can share your genetic testing results. This helps researchers identify and contact potential participants for future studies.
benefits and considerations of genetic testing
Benefits
Genetic testing can provide important information for people who may carry a familial CCM genetic change, even if they have no symptoms:
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Peace of mind: A negative result can relieve uncertainty about your risk or your child’s risk.
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Early medical guidance: A positive result can help doctors monitor for symptoms and CCMs, and guide follow-up care.
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Lifestyle choices: Knowing your mutation status may help you adopt habits that could lower the risk of developing new CCMs.
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Targeted precautions: You can focus on CCM care and surveillance for those who test positive and avoid unnecessary restrictions and medical evaluations for those who test negative.
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Accurate diagnosis: Genetic testing provides information that MRI alone may not detect, since CCMs can develop over time.
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Planning for the future: Some families use genetic testing results to inform financial, legal, insurance, or family planning.
Considerations
There are also factors to weigh before testing:
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Emotional impact: Genetic testing results can cause stress or anxiety and may affect family dynamics. People may find it helpful to talk with family members, friends, or a support network during and after the genetic testing process. Speaking with a genetic counselor, a healthcare provider, or a mental health professional can also provide guidance and support.
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Timing of results: Genetic testing can reveal important information about health risks. Some people may feel prepared to know this information right away, and others may prefer to wait until the time that feels right for them.
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Financial and insurance considerations: Costs for testing and follow-up care can vary. Health insurance usually covers necessary care, but life insurance or other policies may be affected in adulthood.
Summary:
Genetic testing for familial CCM provides clarity and helps guide more personalized medical care, but it can also have emotional and practical impacts. Talking with a genetic counselor or healthcare professional can help you decide if testing is right for you or your family.
Last update 3.14.26
