Recommendations / 19/09/2019

Can CADASIL be cured?

There is no cure for CADASIL or CARASIL. Treatment for the condition focuses on managing patient symptoms. Migraine headaches and seizures associated with CADASIL may be treated using medications. Patients may be instructed to take aspirin daily to help lower their risk of a heart attack or stroke.

What is the condition CADASIL?

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. This condition affects blood flow in small blood vessels , particularly cerebral vessels within the brain.

How do you get tested for CADASIL?

Genetic testing is commercially available to detect mutations in NOTCH3. A small amount of venous blood is needed for the test (10 mL of whole blood in Lavender top tube, refrigerated). More than 90% of patients with CADASIL have mutations (mostly missense) in the NOTCH3 gene.

How common is CADASIL?

CADASIL affects males and females in equal numbers. The disorder is found worldwide and affects all races. The disease affects approximately 2 to 5 of 100,000 people.

Should I get tested for CADASIL?

In a family with an established diagnosis of CADASIL, testing is appropriate to consider in symptomatic people regardless of age. However, testing of asymptomatic people who are younger than 18 years who are at risk for adult-onset disorders for which no treatment exists is not considered appropriate.

What kind of disease is CADASIL and what causes it?

CADASIL What is it? CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary autosomal dominant disease affecting all the small cerebral arteries.

When to tell the Doctor you have CADASIL?

It is important to tell the doctors you have CADASIL so that certain treatments or tests can be avoided. Avoid Thrombolytics and Anticoagulant Treatments, which aim at unblocking blood vessels as they increase the risk of a cerebral hemorrhage.

What are the treatment options for people with CADASIL?

Treatment is only supportive and depends on the symptoms. Most people with CADASIL become bed-ridden and develop dementia over time. Life expectancy is also reduced in people with CADASIL due, especially, to lung and heart diseases.

What is the life expectancy of someone with CADASIL?

Prognosis. Symptoms of CADASIL usually progress slowly. By age 65, most people have severe cognitive problems and dementia. Some people lose the ability to walk, and most become completely dependent on the care of others due to multiple strokes. [1] Life expectancy in people with CADASIL is reduced,…

Is there anything that people with CADASIL should not do?

Thrombolytic therapy is the use of drugs that break up or dissolve blood clots. These medications increase the risk of a cardiovascular accident. People with CADASIL should also not undergo an angiography.

How does CADASIL affect the flow of blood?

As a consequence, the arteries thicken and become more rigid, resulting in decreased blood flow and ischemia. The exchange of nutrients between blood and tissue is also disturbed. CADASIL typically affects small branches of long arteries penetrating deep into the white matter of the brain.