Diseases

CADASIL – Causes, Symptoms & Treatment

CADASIL

CADASIL is a disease whose development is genetic and which is associated with frequent strokes in the people affected. The term CADASIL comes from English and stands for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy . The heart attacks occur mainly in middle age.

What is CADASIL?

CADASIL is a hereditary disease that leads to familial infarctions in patients. CADASIL is inherited in an autosomal dominant manner. CADASIL is one of the cerebral arteriopathies, in which, in addition to leukoencephalopathy , subcortical infarcts also occur. Unlike most other strokes due to arteriosclerosis or similar pre-existing conditions, a genetic mutation is responsible for CADASIL’s susceptibility to infarction.

A mutation in the NOTCH3 gene specifically leads to the symptoms of CADASIL. The gene is located on a specific arm on the 19th chromosome. As a result of the gene mutation, CADASIL patients suffer from microangiopathy affecting major arteries in the brain. The first signs of CADASIL are often severe and recurring headaches similar to migraines .

This pain is caused by the typical changes in the blood vessels as a result of the disease. Basically, CADASIL is considered a rare disease. With a prevalence of about 5:100,000, however, it occurs comparatively frequently among the hereditary stroke diseases.

causes

CADASIL arises as a result of genetic mutations on the NOTCH3 gene. In principle, CADASIL has an autosomal dominant inheritance pattern. The responsible gene is located on the short branch of the 19th chromosome. Due to the hereditary predisposition, the typical infarcts in CADASIL occur more frequently in the affected families.

Symptoms, Ailments & Signs

With CADASIL, patients initially suffer from recurring minor strokes over a period of several years. These primarily damage the white matter of the brain. As a result of these heart attacks, people suffering from CADASIL develop increasing dementia . As a result, the mental abilities of the affected persons gradually decrease more and more. In the clinical examination, CADASIL may show parallels to Binswanger’s disease.

However, patients suffering from CADASIL do not suffer from high blood pressure . Basically, the course of CADASIL differs greatly between individuals and within the affected families. In principle, there are typical symptoms associated with minor strokes. CADASIL hardly affects life expectancy, especially not in female patients.

Some carriers of the gene mutations do not show any symptoms of CADASIL until the end of their lives. In an advanced stage, CADASIL causes increased symptoms of dementia as well as movement disorders and spasticity . In the final stage of CADASIL, the patients are in a coma and are dependent on artificial nutrition.

In principle, CADASIL often also affects other arterioles in different organs and is therefore not necessarily limited to the brain. For example, the eyes are affected by abnormalities, with the retina in particular changing. However, the deviations usually do not cause any symptoms.

The skin may also be affected by changes caused by CADASIL. In rare cases, CADASIL causes impairments in the function of the kidneys . The patients also suffer from microscopic hematuria and slight proteinuria .

Diagnosis & History

The family history is of great importance in diagnosing CADASIL. In addition, an exact description of the previous course of the disease is of enormous importance. To diagnose CADASIL, the doctor uses imaging methods, such as MRI or CT techniques. CADASIL is often not diagnosed until strokes have occurred.

The typical headaches theoretically indicate CADASIL beforehand, but some doctors confuse the pain with migraines. However, earlier diagnoses are possible in children of affected individuals. A reliable diagnosis of CADASIL is always carried out by means of a genetic examination, with doctors identifying the triggering gene.

As part of the differential diagnosis, the doctor clarifies whether other leukoencephalopathies, such as Fabry disease or CNS vasculitis , are present. Leukodystrophies such as metachromatic leukodystrophy should also be ruled out. In addition, CADASIL should not be confused with the disease CARASIL.

complications

CADASIL causes a heart attack in the patient relatively early on. In the worst case, this can lead to the death of the patient. Infarcts often lead to severe and irreversible consequential damage for which no direct treatment is possible. Strokes primarily damage the brain.

There are sensory disturbances and limitations in motor skills. Furthermore, it can also lead to dementia, whereby the affected person is also limited in his thinking and actions. It is not uncommon for CADASIL to cause speech disorders and behavioral disorders. The quality of life is extremely reduced by this disease.

In the further course, various spasms occur, so that the patient may be dependent on the care of other people or on artificial nutrition. The internal organs can also be damaged, which also reduces the life expectancy of the patient. The eyes are also affected by CADASIL, resulting in a loss of vision.

It is not possible to treat CADASIL causally. For this reason, treatment is aimed only at reducing the infarction. High blood pressure must be avoided and the affected person must lead a healthy lifestyle. Other complications usually do not occur.

When should you go to the doctor?

A doctor must be consulted in the event of recurring migraine-like headaches. He can determine whether these symptoms are an early symptom of CADASIL or are due to another illness. Immediate treatment is required in any case. Other possible early symptoms include: kidney problems, vision problems and signs of dementia. If these warning signs are noticed, a doctor’s visit is required.

In the event of a stroke, an ambulance must be consulted immediately. Recurring strokes, which are also accompanied by the accompanying symptoms mentioned, are a sure sign of the genetic disease and must be treated in any case. At the latest when the mental abilities of the affected person decrease, a CADASIL disease can be assumed. Other warning signs that require immediate clarification by a doctor are movement disorders and spasticity.

Due to the large number of possible symptoms and the different courses that the disease can take, a targeted diagnosis is usually only possible in the late stages. A family history can provide information about a possible risk of disease and thus enable early diagnosis and therapy.

Treatment & Therapy

A causal treatment and a cure for CADASIL is not yet possible. Patients are usually given medication to reduce acute symptoms and reduce the risk of stroke. In this context, a change in lifestyle usually makes sense in order to minimize certain risk factors.

When treating CADASIL, doctors strive for low blood pressure and low blood fat and blood sugar levels. However, the course of CADASIL can hardly be influenced. It is therefore also important that patients draw up a living will in good time if the disease progresses to the final stage. The limited possibility of influencing the progression of CADASIL often makes an early diagnosis unnecessary, as it only increases the psychological suffering of the affected patients for no reason.

Outlook & Forecast

In the worst case, CADASIL can lead to the death of the person affected because the patient suffers a stroke . This usually occurs when the disease is left untreated. The treatment involves taking medication that can reduce the risk of a stroke. A healthy lifestyle can also have a positive effect on the course of the disease and prevent strokes.

The course of CADASIL depends very much on the type of treatment and the lifestyle of the patient. However, the course of CADASIL often cannot be influenced because the disease has not been researched very well to date. However, an early diagnosis has a very positive effect on the patient’s condition in any case. Since the symptoms of CADASIL often appear at a young age, the life expectancy of those affected is greatly reduced.

If CADASIL is not treated, most patients die from a stroke or its consequences. The consequences of a stroke are often irreversible and can no longer be treated. Despite treatment, the disease progresses and unfortunately cannot be stopped.

prevention

Preventive measures regarding CADASIL are not yet available. CADASIL is already defined at birth, so preventive measures would have to start with the genetic mutations. The susceptibility to strokes caused by CADASIL can be reduced through lifestyle changes, so that some prevention is possible here.

aftercare

Since CADASIL is a hereditary disease, it cannot be completely and causally cured. Follow-up care is also not possible, so that the person affected is dependent on treatment for the rest of their life. Since CADASIL leads to an increased risk of strokes, these must be prevented.

This is mainly possible through a healthy lifestyle. In the event of a stroke, go to a hospital or call an ambulance immediately. Therapy is often necessary after a stroke to compensate for possible disabilities. Infarctions can occur frequently, especially in middle age.

After the stay in the hospital, the affected person is usually dependent on taking medication. These should be taken regularly and in the correct dosage. Unfortunately, some consequences of strokes are irreversible and can no longer be fully treated.

The risk of another stroke is significantly reduced by a healthy lifestyle and by taking the medication. If the patient’s parents intend to have another child, they should undergo genetic counseling to potentially prevent CADASIL from occurring.

You can do that yourself

Patients suffering from CADASIL can take some measures themselves to relieve the symptoms. A lifestyle change has proven its worth. Affected people should avoid being overweight or lose weight through diet and exercise. Physical activity and a balanced diet are important components of the accompanying therapy.

Patients should also not smoke or quit smoking to avoid high blood pressure, cholesterol levels and other complications that can negatively impact CADASIL syndrome. Other harmful influences such as diabetes or lipid metabolism disorders should be avoided through an active lifestyle and regular medical examinations. Women should stop taking the pill or, if necessary, switch to a preparation with a low estrogen content. In addition, you should drink a lot. Regular fluid intake is important, especially in summer.

The accompanying measures focus on preventing a stroke. If a stroke has already occurred, self-therapy focuses on supportive physiotherapeutic and mental measures. Which steps are useful and necessary in detail depends on the severity of the condition. Basically, a self-help group should be visited, because talking to other affected people is an important part of dealing with a stroke. In addition to therapy centers, internet forums can also be used for this purpose.

Lisa Newlon
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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.