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Intracranial Aneurysm, Genetic Testing

An intracranial aneurysm is a swollen, weakened area in the wall of a blood vessel inside the brain. If an aneurysm ruptures, it can lead to a life-threatening hemorrhagic stroke. Treatment includes surgical repair to prevent rupture. The assessment of the Polygenic Risk Score for intracranial aneurysms is based on examining 16 gene polymorphisms.

Genetic testing for intracranial aneurysm is included along with 15 other diseases in the Genetic Screening for Nervous System Diseases, Polygenic Risk Score as well as in the Genetic Screening for Cardiovascular and Respiratory Diseases, Polygenic Risk Score along with 14 other diseases.

Causes and non-genetic risk factors

Intracranial aneurysms are relatively common and, for the most part, do not create health problems and cause no symptoms. As a result, many are never diagnosed and may be detected during tests performed for other conditions.

Their exact causes are unknown, but significant risk factors that may contribute to their development have been identified. These include:

  • Advanced age.
  • Smoking.
  • Hypertension.
  • Drug abuse.
  • Excessive alcohol consumption.
  • Gender (more frequent in women).
  • Traumatic brain injuries.
  • Certain infections by microorganisms.

In addition, although much less frequent, aneurysms may be related to specific pathologies such as connective tissue disorders (e.g., Ehlers-Danlos syndrome), polycystic kidney disease, or congenital arteriovenous malformations.

Symptoms

In most cases, intracranial aneurysms, especially small ones, are asymptomatic. However, when they are large, they can exert pressure on the tissues and may cause pain, a dilated pupil, changes in vision, or numbness on one side of the face.

Occasionally, intracranial aneurysms rupture, causing more severe symptoms that may include:

  • Sudden and very intense headache.
  • Nausea and vomiting.
  • Neck stiffness.
  • Blurred vision and sensitivity to light.
  • Convulsions.
  • Pale skin.
  • Loss of consciousness.

In these cases, immediate medical treatment is required.

Prevention

Preventing intracranial aneurysms involves controlling risk factors, especially in older people and those with a family history of the disease. Special care should be taken regarding cardiovascular risk factors and diseases that can weaken blood vessels, such as diabetes, hypercholesterolemia, and atherosclerosis. In addition, a healthy lifestyle should be maintained, avoiding stress and the consumption of tobacco and alcohol.

Additional information
Results Time4 - 5 Weeks
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