In CADASIL is a disease whose origin is genetic and is accompanied by heaping stroke in the affected people. The disease 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 infarcts in the patient. CADASIL is an autosomal dominant inheritance. CADASIL is one of the cerebral arteriopathies, with leukoencephalopathy as well as subcortical infarctions. In contrast to most other strokes as a result of arteriosclerosis or similar pre-existing diseases, a genetic mutation is responsible for the susceptibility to infarction in CADASIL.
Specifically, a mutation in the NOTCH3 gene leads to the symptoms of CADASIL. The gene is on a specific arm on the 19th chromosome. As a result of the gene mutation, patients with CADASIL suffer from microangiopathy that affects important arteries in the brain. The first signs of CADASIL are often severe and recurring headaches that resemble a migraine.
This pain is caused by the typical changes in the blood vessels as a result of the disease. Basically, CADASIL is considered a seldom occurring disease. Among the hereditary stroke diseases, however, it occurs comparatively frequently with a prevalence of around 5: 100,000.
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 on the short branch of the 19th chromosome. Due to the hereditary predisposition, the typical infarcts with CADASIL occur more frequently in the affected families.
Symptoms, ailments & signs
With CADASIL, the patients initially suffer from recurring minor strokes over a period of several years. These mainly damage the white matter of the brain. As a result of these infarcts, people suffering from CADASIL develop increasing dementia. As a result, the mental abilities of the affected person gradually deteriorate. During the clinical examination, CADASIL may show parallels to Binswanger’s disease.
However, the patients suffering from CADASIL do not suffer from high blood pressure. Basically, the course of CADASIL differs greatly between individual people and within the families concerned. 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 suffer from any symptoms of CADASIL for the rest of their lives. In an advanced stage, CADASIL shows more signs of dementia as well as disturbances of movement and spasticity. In the final stages of CADASIL, the patients lie in a vegetative state and are dependent on artificial nutrition.
In principle, CADASIL often also affects other arterioles in different organs and is therefore not inevitably 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 restricts the function of the kidneys. The patients also suffer from microhematuria and mild proteinuria.
Diagnosis & course
When diagnosing CADASIL, the family history is of great importance. In addition, an exact description of the previous course of the disease is of enormous importance. To diagnose CADASIL, the doctor uses imaging techniques, such as MRI or CT techniques. A diagnosis by CADASIL is often only made when a stroke has 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 based on genetic testing, 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 can also be ruled out. In addition, CADASIL should not be confused with the disease CARASIL.
With CADASIL, a heart attack occurs relatively early in the patient. In the worst case, this can lead to the patient’s death. Heart attacks often lead to severe and irreversible consequential damage, for which no direct treatment is possible. The strokes mainly damage the brain.
Sensitivity disorders and motor skills are impaired. Furthermore, dementia can also occur, whereby the person affected is also limited in his thinking and acting. It is not uncommon for CADASIL to cause speech disorders and behavioral disorders. The quality of life is extremely reduced by this disease.
As the disease progresses, various spasticities occur, so that the patient may be dependent on care from 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, so that there is a loss of vision.
It is not possible to treat the cause of CADASIL. For this reason, the treatment is aimed only at reducing the infarct. In doing so, high blood pressure must be avoided and the person affected must lead a healthy lifestyle. There are usually no further complications.
When should you go to the doctor?
In the event of recurring, migraine-like headaches, a doctor must be consulted. This can determine whether these symptoms are an early symptom of CADASIL or are due to another illness. Prompt treatment is required in any case. Possible early symptoms also include: kidney problems, problems with vision and signs of dementia. If these warning signs are noticed, a doctor will be needed.
In the event of a stroke, an emergency doctor 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. CADASIL disease can be assumed at the latest when the mental abilities of the affected person decrease. 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 course 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 disease risk and thus enable early diagnosis and therapy.
Treatment & Therapy
A causal treatment and a cure for CADASIL is not yet possible. Most patients are given medication to reduce acute symptoms and the risk of strokes. At this point, 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 lipid and blood sugar levels. However, the course of CADASIL can hardly be influenced. It is therefore also important that the patient draw up a living will in good time if the disease progresses to the terminal stage. The limited possibilities of influencing the progression of CADASIL often make an early diagnosis unnecessary, as it only increases the psychological suffering of the affected patient for no reason.
Outlook & forecast
In the worst case, CADASIL can lead to death of the person affected because the patient suffers a stroke. Usually this happens when the disease is left untreated. 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 patient’s lifestyle. Often, however, the course of CADASIL cannot be influenced, as the disease has so far been little researched. However, an early diagnosis has a very positive effect on the patient’s condition. Since the symptoms of CADASIL often appear at a young age, the life expectancy of those affected is very much reduced.
If CADASIL is not treated, most patients will die of a stroke or its consequences. The consequences of a stroke are often irreversible and can no longer be treated. The disease progresses despite treatment and unfortunately cannot be stopped.
Preventive measures with regard to CADASIL are not yet available. CADASIL is already determined at birth, so that preventive means would have to address the genetic mutations. The susceptibility to strokes caused by CADASIL can be reduced by changing lifestyle, so that prevention is possible in some cases.
Since CADASIL is a hereditary disease, it cannot be cured completely or causally. Follow-up care is also not possible, so that the person affected is dependent on treatment for their entire life. Since CADASIL leads to an increased risk of strokes, these must be prevented.
Above all, this is also possible through a healthy lifestyle. In the event of a stroke, go to a hospital or call an emergency doctor immediately. Therapy is often necessary after a stroke to compensate for possible disabilities. Infarcts can occur frequently, especially in middle age.
After a stay in the hospital, the person concerned is usually dependent on taking medication. These should be taken regularly and in the correct dosage. Unfortunately, some consequences of a stroke are irreversible and can no longer be fully treated.
The risk of another stroke is significantly reduced by a healthy lifestyle and by taking medication. If the patient’s parents want to have another child, they should undergo genetic counseling in order to possibly avoid the occurrence of CADASIL.
You can do that yourself
Patients suffering from CADASIL can take some measures themselves to alleviate the symptoms. A change in lifestyle has proven itself. Those affected should avoid being overweight or lose weight through diet and exercise. Physical activity and a balanced diet are important components of accompanying therapy.
Sick people should also not smoke or quit smoking in order to avoid high blood pressure, disorders of the cholesterol level and other complications that can have a negative effect on the 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 hydration is especially important in summer.
The accompanying measures focus on preventing a stroke. If a stroke has already occurred, self-therapy concentrates on supporting physiotherapeutic and mental measures. Which steps are useful and necessary in detail depends on the severity of the condition. In principle, a self-help group should be sought, because talking to other people affected is an important part of coping with a stroke. In addition to therapy centers, internet forums are also available for this purpose.