French Women From Multiplex Abdominal Aortic Aneurysm Families Should Be Screened

The incidence and prevalence of abdominal aortic aneurysm (AAA), a common pathology in the elderly, are increasing.1–4 Although most AAAs remain asymptomatic, their diameter increase leads to spontaneous rupture, which is associated with a mortality rate ranging from 66% to 95%.5–7 Several studies indicated the necessity of mass screening for AAA.8–10 Genetic factors predisposing for AAA are suspected because multiple familial cases have been identified and the known genetic etiology of several elastic tissue diseases causing aneurysms such as Marfan syndrome and Ehlers-Danlos syndrome has been identified. It is difficult to estimate the frequency of multiplex AAA families (MAAAF) because of the different methodologies used (questionnaire, physical examination, and ultrasonography), and reported rates11–30 vary between 1% and 34% depending on the country. Because the MAAAF frequency is unknown in France, we decided, first, to estimate this rate for families having ≥1 subject with AAA plus the proband (or index case) by asking first-degree relatives (FDR) ≥40 years of age to undergo screening with computed tomography (CT) scans. Second, we describe the phenotypic characteristics of MAAAF to devise guidelines for AAA screening of such families.