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Abdominal Aortic Aneurysm, Genetic Testing

An abdominal aortic aneurysm is a potentially life-threatening condition characterized by abnormal enlargement of the aorta. This main vessel supplies blood to the body through the abdomen. Typically, abdominal aortic aneurysms grow slowly over time and are often asymptomatic until they reach a size that carries a significant risk of rupture. Factors such as age, smoking, male gender, and family history increase the risk of developing this condition. When an aneurysm ruptures, it can lead to severe internal bleeding and an emergency. The diagnosis is often made through imaging tests, such as ultrasound or CT scan. Treatment options vary depending on the size and location of the aneurysm and range from careful monitoring to surgery to prevent rupture. Regular screening for people at high risk can help detect abdominal aortic aneurysms early, allowing for early and appropriate management. The assessment of the Polygenic Risk Score for abdominal aortic aneurysm is based on an examination of 10 gene polymorphisms.

Genetic testing for abdominal aortic aneurysm is included along with 14 other diseases in the Genetic Screening for Cardiovascular and Respiratory Diseases, Polygenic Risk Score.

Causes and non-genetic risk factors

The exact causes that lead to the development of aortic aneurysm are unknown. However, some environmental risk factors have been identified that, together with genetic factors, may increase the risk of arterial wall weakness. These include:

  • Smoking
  • High blood pressure
  • High cholesterol levels
  • Male sex
  • Age: its appearance is more frequent after the age of 60

In addition to the above, which are more frequent, there are other factors, such as trauma or some diseases, such as collagenopathies, which can significantly increase the risk of aneurysm.


Aneurysms can appear and develop without causing symptoms, making them difficult to detect. Sometimes, aneurysms may remain small, but others may overgrow. Occasionally, pain in the abdominal area, back pain, and/or pulse near the navel may be experienced during their development.

However, most of the time, aneurysms do not cause symptoms until they rupture, in which case severe abdominal pain, dizziness, tachycardia, or hypotension may appear. In these cases, it is crucial to seek medical help as they can be life-threatening.


Since, in most cases, aneurysms are asymptomatic, people at higher risk (male smokers over 60 years of age with a family history) must undergo imaging tests for their detection. If these are detected in early stages, they can be treated to prevent them from growing and rupturing.

In addition, it is generally recommended to avoid environmental risk factors such as smoking, high blood pressure, or high cholesterol levels.

Additional information
Results Time4 - 5 Weeks
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