An aneurysm is an abnormal widening of an artery caused by weakness in the blood vessel wall. This increases the risk of rupture, potentially leading to a life-threatening hemorrhage. It can occur in any blood vessel, although most occur in the aorta.
Abdominal aortic aneurysm
The exact causes of aortic aneurysm are unknown, although some environmental risk factors have been identified that, along with genetic factors, may increase the risk of arterial wall weakness. These include:
- Smoking.
- High blood pressure.
- Elevated cholesterol levels.
- Male sex.
- Age: its occurrence is more common after the age of 60.
In addition to the above, which are more common, there are other factors such as trauma or some diseases, such as collagenopathies, that can significantly increase the risk of aneurysm.
Symptoms
Aneurysms can appear and develop without causing any symptoms, making them difficult to detect. Sometimes, aneurysms can be small and remain that way, but others can grow rapidly. Occasionally, during their development, one might experience abdominal pain, back pain, and/or a pulse near the navel.
However, in most cases, aneurysms do not cause symptoms until they rupture, at which point severe abdominal pain, dizziness, tachycardia, or hypotension may occur. In these cases, it is important to seek medical help as they can be potentially life-threatening.
Prevention
Since, in most cases, aneurysms are asymptomatic, it is important that people at higher risk (male smokers over 60 years of age with a family history) 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.
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Number of observed variants
13.5 million variants
Number of risk loci
10 loci
Genes analyzed
Bibliography
Klarin D, Verma SS, Judy R, et al. Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program. Circulation. 2020 Oct;142(17):1633-1646.
UK National Health Service [March 2022]
Golledge J. Abdominal aortic aneurysm: update on pathogenesis and medical treatments. Nat Rev Cardiol. 2019 Apr;16(4):225-242.