Intracranial aneurysm

A cerebral aneurysm is an abnormal widening of an artery in the brain caused by a weakness in the blood vessel wall. This increases the risk of rupture, potentially leading to a life-threatening hemorrhage. The prevalence of cerebral aneurysms is estimated to be between 1.5% and 8%, although most do not show symptoms until they become large or rupture.

Intracranial aneurysms are relatively common and most do not cause health problems or symptoms. Therefore, many are never diagnosed and can 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.
  • Sex, being more common in women.
  • Head trauma.
  • Certain infections by microorganisms.

Additionally, although much less frequently, aneurysms can be related to certain conditions such as connective tissue disorders (e.g., Ehlers-Danlos syndrome), polycystic kidney disease, or congenital arteriovenous malformations.

Symptoms

In most cases, intracranial aneurysms are asymptomatic, especially when they are small. However, when they are large, they can put pressure on the tissues, potentially causing pain, dilated pupil, changes in vision, or numbness on one side of the face.

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

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

In these cases, immediate medical treatment is required.

Prevention

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

Number of observed variants

13.5 million variants

Number of risk loci

16 loci

Genes analyzed

ATP2B1 BET1L CFDP1 CKDN2B EDNRA FGD6 FHL5 HYKK MTMR3 PDE3A PLCE1 RBBP8 RP1 SLC22A5 SLC24A3 STARD13

Bibliography

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