Cerebral cavernous malformation
- Cerebral cavernous hemangioma
- Cavernous angioma
Your QuestionMy husband had a bleed 20 yrs ago and has multiple cerebral cavernous malformations (CCM). My son had a bleed and was also diagnosed with multiple CCMs. Does our family need genetic testing?
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Questions on this page
- What are cerebral cavernous malformations (CCMs)?
- What causes cerebral cavernous malformations?
- What are the signs and symptoms of cerebral cavernous malformations?
- Are cerebral cavernous malformation inherited?
- Is genetic testing available for cerebral cavernous malformation (CCM)?
- If there are multiple individuals in a family with cerebral cavernous malformations, should family member's at risk consider genetic testing?
Cerebral cavernous malformations may be familial or sporadic. Familial cases are caused by a mutation in one of at least three particular genes (KRIT1, CCM2, and PDCD10). While the precise functions of these genes are not fully understood, they are believed to interact with each other as part of a complex that strengthens the interactions between cells and limits leakage from the blood vessels. The underlying cause of sporadic CCMs in unknown and the primary focus of many researchers.
Familial CCMs, which account for at least 20% of all cases, can be passed from parent to child. Individuals with familial CCMs typically have multiple lesions. Familial CCMs are passed through families in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Each child of an individual with familial CCM has a 50% chance of inheriting the mutation.
Sporadic CCMs occur in people with no family history of the disorder. These individuals tend to have only one CCM. Those with sporadic CCM do not have a greater chance of having a child with a CCM than anyone else in the general population.
You can find a list of laboratories that provide genetic testing for CCM through the Genetic Testing Registry (GTR). The GTR is a centralized online resource for information about genetic tests. The intended audience is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Genetic testing can not be performed on a blood sample from someone with sporadic CCM becuase the gene mutation may be located in tissues other than the blood.
To learn more about genetic testing for your family, we recommend that you speak with a genetic professional. Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about finding and visiting a genetics professional is available from the Genetic Consultation Handbook developed by Genetics Home Reference.
To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral. The following online resources can also help you find a genetics professional in your community:
* GeneTests offers a searchable directory of U.S. and international genetics and prenatal diagnosis clinics.
* The National Society of Genetic Counselors provides a searchable directory of U.S. and international genetic counseling services.
* The American College of Medical Genetics has a searchable database of U.S. genetics clinics.
* The University of Kansas Medical Center provides a list of U.S. and international genetic centers, clinics, and departments.
* The American Society of Human Genetics maintains a database of it members, which includes individuals who live outside of the U. S. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- NINDS Cerebral Cavernous Malformation Information Page. National Institute of Neurological Disorders and Stroke (NINDS). February 2015; http://www.ninds.nih.gov/disorders/cavernous_malformation/cavernous_malformation.htm. Accessed 12/14/2015.
- Cerebral cavernous malformation. Genetics Home Reference. November 2012; http://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation. Accessed 12/14/2015.
- Akers, Amy Ph.D.. Cavernous Malformation. National Organization for Rare Disorders (NORD). 2013; http://rarediseases.org/rare-diseases/cavernous-malformation/. Accessed 12/14/2015.
- Morrison L, Akers A. Cerebral Cavernous Malformation, Familial. GeneReviews. May 2011; http://www.ncbi.nlm.nih.gov/books/NBK1293/. Accessed 12/14/2015.