28 diseases - Brain aneurysm

DNA test for genetic predisposition to brain aneurysms

A brain aneurysm (also known as a cerebral or intracranial aneurysm) is a dangerous pathological condition in which an area of a blood vessel in the brain becomes excessively stretched. Statistics show that about 1% of the world population have an unsuspected cerebral aneurysm.

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Brain aneurysm

Aneurysms mainly strike arteries, as blood pressure is significantly higher in these vessels than in the veins. Aneurisms are dangerous mainly when they rupture. When this happens, blood escapes into the brain tissue and compresses the neurons, impairing their function and possibly leading to a fatal outcome.

Aneurysms rupture most frequently in people aged between 40 and 70. About 15% of all patients die in the first minutes following the rupture; almost 30% die within 3 weeks, and about 46% within a month. Almost half of patients who survive lose their capacity to work, and a sizeable number need constant care and supervision. The statistics associated with a second burst aneurysm are even gloomier.

Why aneurisms burst

Aneurysms are formed by a process that arises from an initial microtrauma to the wall of an artery in the brain, or from a structural abnormality in the arterial wall. Under the effect of the blood flowing through the arteries under quite high pressure, the vascular wall in the changed area gradually stretches and forms an aneurysm. Aneurysms form most often at points where arteries branch; here, the hemodynamics create particularly high blood pressure against the artery wall. At the point where the aneurysm is, the arterial wall is significantly thinner and weaker; the muscle layer and collagen fibers wear down, and the risk of rupture arises.

Once formed, a cerebral aneurysm often undergoes further development: under the effect of the blood flow, it grows in size, and the artery wall becomes thinner. When the inner layer of the vascular wall is damaged, blood may exfoliate it, forming an exfoliating aneurysm at high risk of rupturing.

The trigger factor for rupture is often an increase in arterial pressure caused by illness, stress, physical load, alcohol intake etc.

Risk factors for brain aneurysms include:

  1. 1Atherosclerosis;
  2. 2Injury;
  3. 3A tumor;
  4. 4Arterial hypertension;
  5. 5Lipid exchange disorders;
  6. 6Obesity;
  7. 7Certain systemic diseases involving connective tissue damage;
  1. 8Infections;
  2. 9Prolonged intoxication, including by alcohol, narcotics etc.
  3. 10Genetically determined abnormalities of the structure of the vascular network of the brain or the arterial wall;
  4. 11Hereditary diseases (Marfan syndrome, neurofibromatosis, Ehlers–Danlos syndrome and certain others).

Many of the above-listed diseases and conditions are only trigger factors. They affect a blood-vessel wall with an already pathological structure, forming an aneurysm.

The genetic factor in the formation of aneurysms

From studying the statistics of all clinically expressed cases of intracranial aneurysm, scientists have concluded that the disease occurs far more frequently in certain families. About 15% of aneurism patients admitted for treatment (whether emergency or planned) in neurosurgical hospitals have a family history indicating that a first-, second- or third-degree relative has the same disease.

The risk of developing cerebral aneurysms grows by a factor of 3 on average if this pathology is diagnosed in a relative. It should be borne in mind that these calculations do not include people with a symptom-free course of the disease, so it cannot be ruled out that the true figures may be far higher.

The prognosis is generally rather worse for hereditary aneurysms: they rupture at an earlier age than secondary forms such as those caused by atherosclerosis.

In some countries, people with a hereditary predisposition are screened for cerebral aneurysms. Screening involves angiography or computed tomography. Examination is recommended where a high risk of the disease is confirmed by genetic testing, and also for people who have relatives with intracranial aneurysm.

Cerebral vascular aneurysm: symptoms and complications

A cerebral aneurysm usually does not manifest in any way, although in some cases there may be symptoms of cerebral compression or other neurological manifestations:


  • Headache;
  • Visual disturbance;
  • Limb paralysis (arising gradually);
  • Tactile dysfunction;
  • Speech disturbances;
  • Intellectual impairment;
  • Convulsive syndrome.

Severe symptoms are usually caused by a large brain aneurysm, but not always: for example, even a small bulging of the vascular wall can irritate particular areas of the cortex and trigger convulsive fits.

Rupture of a cerebral aneurysm is the most serious complication of the disease. The symptoms of a rupture usually appear suddenly and are life-threatening in nature:


  • Extremely severe headache;
  • Vomiting;
  • Sudden loss of vision or hearing;
  • Sharp rise in blood pressure;
  • Cold, clammy sweat;
  • Increased heart rate;
  • Paralysis or loss of sensation;
  • Convulsions;
  • Agitation, motor excitement;
  • Loss of consciousness.

The clinical picture of a ruptured aneurysm depends on the site of the vascular accident, the caliber of the damaged artery and the volume of hemorrhage. The symptoms may gradually worsen, usually as a result of continuing hemorrhage and progressive compression of brain structures.

In rare cases, when an aneurysm bursts in a small blood vessel, the volume of blood released is too small to cause significant compression of the brain tissue; such patients remain conscious for a long time, may continue working, and may not even seek medical help. In this case, a diagnosis may be made coincidentally during examination for another condition.

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Every year, thousands of people around the world fall victim to cerebrovascular accidents that cause disability and death. In over half of cases, serious consequences could have been prevented by timely preventive treatment.

Don't wait for the disease to strike – it is too dangerous! Protect your life and that of your loved ones - take a DNA test for genetic predisposition to cerebral aneurysm.

Diagnosis

The following tests are performed to identify cerebral aneurysms:


Computed tomography:

this is an x-ray examination resulting in a multi-layered representation of the brain. The cross-section photographs show up bleeding, large formations (tumors or major aneurysms), and displacement of the cerebral ventricles.

Angiography:

this makes it possible to see the cerebral arteries, which are filled with a contrast agent. Under anesthesia, a special catheter is introduced into the femoral artery and carefully guided towards the carotid arteries in order to introduce vascular contrast. A series of photographs are then taken.

Spiral computed tomography:

performed to visualize the cerebral blood vessels, this is a modern variant of angiography giving more accurate pictures, more comfort for the patient and minimum risk.

Lumbar puncture:

this can establish the presence of bleeding in the brain, but gives no information about the cause of the pathological process.

Magnetic resonance tomography:

this is not informative during the first days following a ruptured aneurysm, but it can be used successfully in the distant period to assess the dynamics and the consequences of a hemorrhage.

Treatment of aneurysms

Small cerebral aneurysms without significant symptoms do not require treatment: for these patients, observation by a neurologist is indicated. The specialist will monitor the size of the aneurysm and the general condition of the patient in order to spot any dangerous progression of the disease and take appropriate measures in good time.



Surgery

Treatment of the disease relies mainly on surgical approaches. When a rupture of a brain aneurysm occurs, an operation to remove blood clots, suture the blood vessel and relieve brain compression may be indicated.

Indications for precautionary operations are identified individually in each case, taking account of the rate of progression of the process, the site of the aneurysm, the age of the patient and his general condition.


Modern neurosurgery provides two main approaches to surgical treatment of intracranial aneurysm:

  1. 1

    Microsurgical clipping.
    The brain is accessed by means of traditional trepanation of the skull. The point of the operation is to exclude the damaged area of the artery from the general bloodstream. To do this, special clips are placed on the blood vessel to stop the flow of blood. Accuracy is ensured by performing all manipulations with microsurgical equipment.

  2. 2

    Endovascular surgery.
    This is a non-invasive technique requiring no trepanation. Access to the aneurism site is achieved via the blood vessels, using a special x-ray-contrasting catheter. The catheter is introduced into a peripheral artery; under x-ray control, it is guided to the operation site. The aneurysm is blocked with a special, spiral-shaped device that obstructs the vascular lumen at the point where the aneurysm is located.

Endovascular technologies can be used, not only as precautionary measures, but also in the acute phase of the rupture of a small aneurysm. Even though this treatment is not very traumatic, endovascular interventions are performed only in specialized hospitals where a full-blown operating theater is available. This is required because complications requiring trepanation cannot be ruled out in the course of the operation.

Conservative treatment

Drug therapy is generally used as a supplement to surgery. The indications may call for the use of drugs to suppress thrombus formation and thin the blood, or to relieve vascular spasm. Analgesics and sedatives may also be used.

It is important to bear in mind the importance of treating diseases that aggravate the course of cerebral aneurysms and trigger ruptures. Patients with arterial hypertension should take hypotensive drugs in a regimen that can maintain blood pressure at physiological level. Where lipid exchange disruption is identified or clinical signs of atherosclerosis are present, dietary treatment, weight correction and hypolipidemic therapy are indicated.

Appropriate treatment of conditions in the aneurysm risk group can minimize the likelihood of the aneurysm rupturing.

Physiotherapy

Physiotherapy techniques are widely used during the rehabilitation period. Physiotherapy helps restore or improve impaired functions of the body. To this end, massage, therapeutic exercise, hydrotherapy, muscular electrostimulation, electrophoresis etc. are prescribed.

Prevention

Preventive measures aim to maintain and support general health:


Active lifestyle;
Correct diet;
Weight control;
Regular preventive check-ups;
Early treatment of cardio-vascular disease and metabolic disorders;
Giving up harmful habits;
Avoiding activities carrying risk of injury.
Your future in your hands!

In view of the role played by genetic predisposition, it is important to know your family history. Information on relatives with cerebral aneurysm, together with confirmation by DNA test of a genetic predisposition, will be used to draw up a personal prevention and monitoring plan.

Remember: early treatment of cerebral aneurysm can prevent dangerous consequences. Start preventing a vascular accident as soon as possible - take a DNA test for genetic predisposition to brain aneurysms!