Abdominal aortic aneurysm

Abdominal aortic aneurysm (AAA) is thought to be a multifactorial condition, meaning that one or more genes likely interact with environmental factors to cause the condition. In some cases, it may occur as part of an inherited syndrome.^[1]

Having a family history of AAA increases the risk of developing the condition. A genetic predisposition has been suspected since the first report of three brothers who had a ruptured AAA, and additional families with multiple affected relatives have been reported.^[2] In some cases, it may be referred to as " familial abdominal aortic aneurysm."^[1] A Swedish survey reported that the relative risk of developing AAA for a first-degree relative of a person with AAA was approximately double that of a person with no family history of AAA. In another study, having a family history increased the risk of having an aneurysm 4.3-fold. The highest risk was among brothers older than age 60, in whom the prevalence was 18%.^[2]

While specific variations in DNA (polymorphisms) are known or suspected to increase the risk for AAA, no one gene is known to cause isolated AAA. It can occur with some inherited disorders that are caused by mutations in a single gene, such as Marfan syndrome and Ehlers-Danlos syndrome, vascular type. However, these more typically involve the thoracoabdominal aorta.^[2]

Because the inheritance of AAA is complex, it is not possible to predict whether a specific person will develop AAA. People interested in learning more about the genetics of AAA, and how their family history affects risks to specific family members, should speak with a genetics professional.

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.