Selection for screening for familial aortic aneurysms

Abstract

The reported familial clustering of abdominal aortic aneurysm (AAA) indicates the possible rewards of family-based screening programmes with respect both to the number of asymptomatic aneurysms detected and to identifying associated genes. Ultrasonographic screening of 28 families (25 brothers and 28 sisters) was carried out together with collecting a history and a blood sample for analysis of the cholesterol level and genetic markers. Among the screened siblings six (11 per cent), all > 60 years old, had an AAA > or = 3.0 cm in diameter. A further 11 siblings (21 per cent), six of whom were < 60 years old, had a wide (2.5-2.9 cm) aorta. The presence of an aneurysmal or wide aorta was significantly associated with smoking (P = 0.027), male sex (P = 0.008) and a proband age of < 60 years (P = 0.031). Polymorphic genetic markers for type III collagen and haptoglobin were not informative in these families. These results indicate that the efficiency of screening siblings of patients with AAA could be improved by limiting it to brothers with a smoking history and/or siblings of younger patients. The familial component appears to be greatest in these younger patients.

A population-based case-control study of the familial risk of abdominal aortic aneurysm

“…1 Case series have reported increased familial risk for AAA and several studies have reported a high prevalence of AAA among siblings of AAA patients. [2][3][4] Case-control studies have shown an approximately four-fold increased risk being affected for firstdegree relatives of AAA patients. 5,6 These studies are mostly based on consecutive patient series from one or few centers, and few population-based reports covering the subject can be found.…”

Familial Patterns of Thoracic Aortic Aneurysms

“…18 Screening brothers of patients with aneurysms renders an incidence of aneurysms of 20% to 29%. 19 Therefore, we expect that ultrasound screening of the 26 families with familial nonsyndromic TAA will find additional affected patients and permit more accurate pedigree analysis.…”

Patient-specific biomechanical profiling in abdominal aortic aneurysm development and rupture

“…[1][2][3][4][5][6][7][8] Risk factors for development of AAA include age, male sex, smoking, hypertension, and a positive family history, whereas African Caribbean individuals and diabetic patients are at reduced risk. 6,[9][10][11] Most AAAs remain asymptomatic until rupture occurs. The overall mortality rate after rupture is 65% to 85%.…”