WHY GET TESTING?
Have you had genetic testing for your cavernous angioma? If you have multiple cavernous angioma lesions, and/or a family history of the illness, please consider talking to your doctor about genetic testing.
Familial cavernous angioma is caused by mutations in one of three genes: CCM1, CCM2 or CCM3. These mutations, typically inherited from one’s mother or father, can be detected in a blood or saliva sample that is subjected to sequencing and/or deletion testing.
While all forms of cavernous angioma cause brain lesions that look identical, they can vary greatly among different individuals. Studies have also shown trends in each of the mutation classes. For example, individuals with mutations in the CCM3 gene tend to have an earlier age of onset (often in childhood), higher rates of hemorrhage, and a propensity to develop certain types of brain tumors.
As we continue to learn more about all forms of cavernous angioma, undergoing genetic testing can help to provide your doctors with useful information to guide you in your treatment regimen.
For your family…
Your genetic testing can also benefit your family. Familial cavernous angioma is passed from parent to child with each child having a 50% chance of inheritance from an affected parent. Similarly, you had a 50/50 chance of inheriting the mutation from one of your parents.
By identifying your genetic mutation, your children and extended family members can undergo targeted genetic testing to see whether or not they also carry your family’s specific disease-causing mutation. Targeted genetic testing of a previously identified mutation is a quick and cost-effective way to diagnose family members. Genetic screening of family members can provide them with a definitive diagnosis or with relief, if they don’t have a mutation. It can also help avoid unnecessary and costly MRIs or CAT scans for family members who have not inherited the disease-causing mutation.
For the Angioma Alliance Community…
Each day scientific progress draws us closer to a clinical trial and treatment for cavernous angioma. A successful clinical trial will require participation and rapid recruitment from the patient community. In order to be prepared for such trials, we need to have a well-defined group of patient volunteers who are willing to participate.
To keep up to date with the latest research volunteer opportunities, please register with the Susan Sukalich Angioma Alliance International Patient Registry, www.angioma.org/registry. This online registry is a communication tool that links the patient and research communities. Once you have created an account, a portal allows you to upload your genetic testing results so we can identify and contact those individuals who are eligible for any upcoming study. (Angioma Alliance will never share any of your personal information without your permission.)
By joining the Registry and sharing your results, you are helping us to define the cavernous angioma patient community and helping researchers design feasible studies and quickly recruit participants. Recruitment problems are among the most difficult and cost-prohibitive problems of many clinical trials.
WHAT IF YOU HAVE A SINGLE LESION AND NO FAMILY HISTORY?
Genetic testing is not recommended for sporadic CCM (single lesions without a family history). This is because sporadic CCM is not caused by inherited mutations, and testing your blood would not identify a mutation. Please see Do I Have Sporadic CCM? to learn about the use of MRI with SWI sequencing to confirm sporadic CCM.
At a cellular level, sporadic CCM lesions look identical to those of any inherited form. Therefore, one can reasonably hypothesize that at a fundamental biological level similar processes are causing all forms of this illness. While genetic testing is not recommended for individuals with sporadic CCM, we still need you to join our registry so that we can keep you up to date with new announcements for clinical studies.
Please visit the Susan Sukalich Angioma Alliance International Patient Registry at angioma.org/registry.
—- Amy Akers, Ph.D., Angioma Alliance Chief Scientific Officer