Genetic Testing For Abdominal Aortic Aneurysm? Becoming Promising!

Hi Folks!

If you have AAA in your family should you carry out genetic testing to assess such a risk for your children? This is an interesting and complex issue. There are testing programs available. For instance, the Berkeley HeartLab provides information on screening for “sequence variants within the 9p21 locus of chromosome 9,” along with information on its relevance to AAA. There is clearly a need for continued research on the genetic pathogenesis of AAA, and the following extract from the linked article by Lillvis et al. (2011) pretty well sums up the situation, as best I can tell:

“Abdominal aortic aneurysm (AAA) is an irreversible, progressive dilation of the abdominal aorta, occurring most frequently below the renal arteries. Known risk factors for AAA include smoking, male sex, comorbid vascular disease, increasing age, and family history [1]. AAA pathophysiology is complex, but fundamentally aneurysms arise from the loss of structural integrity and the consequent weakening of the vessel wall. Several extracellular matrix (ECM) degrading enzymes, including matrix metallopeptidases (MMPs) [2], cathepsins [3,4], and granzyme [5], have been implicated in the destruction and turnover of ECM proteins in the aortic wall. Infiltrating cells of the immune system are also found throughout the AAA wall [6] and are important to AAA development by producing ECM degrading enzymes and reactive oxygen species, as well as releasing proinflammatory cytokines that lead to further inflammation [7,8]. AAA also displays several characteristics consistent with being a multifactorial genetic disease [9].”

If you Chez Ollie you see a picture of a whole team of people working on our disease! Thanks, folks!

The sooner you know the risks, the sooner you will invest in screening for early evidence of such aneurysms, prior to risk of rupture, which comes with an 80% chance of death (Schermerhorn, 2009). Not good! There is ongoing research designed to improve our understanding of the underlying role of genetics in this condition, such as that being carried out at Chez Ollie, and more power to them, I say!

If you are concerned about yourself or your family and friends, a number of facilities, such as Chez Ollie, provide tests for the presence of an AAA, which can detect such an aneurysm before rupture. The process involves a simple ultrasound examination, which is how my diagnosis was confirmed. It was the one time I really did not want to be right!

Keep looking after yourselves, but don’t waste your life being afraid. Just take sensible precautions.





  1. Pauline Watson says

    Thanks for this information. The TGF gene mutation is mentioned in one of the articles – that’s one that they are checking me for. It will be a while before I get the results – so much for public health!

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