CADASIL is a genetic disorder that affects the brain. A gene mutation affects the muscle cells surrounding small blood vessels in the brain. The damaged muscles cause damage to these blood vessels. It can impair blood flow. This can lead to migraines, strokes, and dementia.
For some people with CADASIL, symptoms develop around age 30. Others do not have symptoms until much later in life.
These symptoms may include:
- Migraine headaches
- Strokes (may have multiple strokes)
- Mental health issues, such as depression or anxiety
- Memory problems (dementia)
Your doctor will:
- Take your medical history, especially focusing on whether or not your parents or other family members have CADASIL
- Ask about your symptoms
- Do a physical exam
To diagnose CADASIL, your doctor may do tests, including:
- MRI of your brain—For detailed pictures of your brain
- A skin biopsy to look for changes in your small blood vessels
- Genetic tests to look for the NOTCH3 gene mutation
Researchers are studying ways to treat CADASIL. If you are diagnosed with this disorder, your doctor will work closely with you to create a treatment plan.
Treatment is focused on relieving your symptoms. This may include medication to treat:
- Migraines—May be over-the-counter pain relievers or prescription drugs
- Depression or anxiety
- Cognitive difficulties
Other medications may be given to reduce your risk of a stroke or heart attack. These may include daily aspirin or medication to lower blood pressure.
When prescribing medicine, your doctor will be very careful. Certain drugs can worsen your condition by further reducing blood flow in your brain.
Being diagnosed with CADASIL is a life-changing event. It is normal to have a range of emotions as a result. To help manage this change:
- Get support from family members and friends. Talk to them about your diagnosis.
- Consider a support group for people with genetic disorders.
- Become educated. Learn about CADASIL and ways that you can stay healthy.
There is no known way to prevent this disorder. But, if you have a family history of CADASIL, you can talk with a genetic counselor when deciding to have children.