Screening for brain aneurysm in the Familial Intracranial Aneurysm study: frequency and predictors of lesion detection

Abstract

Object-Approximately 20% of patients with an intracranial saccular aneurysm report a family history of intracranial aneurysm (IA) or subarachnoid hemorrhage. A better understanding of predictors of aneurysm detection in familial IA may allow more targeted aneurysm screening strategies. Methods-TheFamilial Intracranial Aneurysm (FIA) study is a multicenter study, in which the primary objective is to define the susceptibility genes related to the formation of IA. First-degree relatives (FDRs) of those affected with IA are offered screening with magnetic resonance (MR) angiography if they were previously unaffected, are ≥ 30 years of age, and have a history of smoking and/or hypertension. Independent predictors of aneurysm detection on MR angiography were determined using the generalized estimating equation version of logistic regression.Results-Among the first 303 patients screened with MR angiography, 58 (19.1%) had at least 1 IA, including 24% of women and 11.7% of men. Ten (17.2%) of 58 affected patients had multiple aneurysms. Independent predictors of aneurysm detection included female sex (odds ratio [OR] 2.46, p = 0.001), pack-years of cigarette smoking (OR 3.24 for 20 pack-years of cigarette smoking compared with never having smoked, p < 0.001), and duration of hypertension (OR 1.26 comparing those with 10 years of hypertension to those with no hypertension, p = 0.006).Conclusions-In the FIA study, among the affected patients' FDRs who are > 30 years of age, those who are women or who have a history of smoking or hypertension are at increased risk of suffering an IA and should be strongly considered for screening. To clarify further the occurrence of IA detection on brain MR angiography studies in families with several members affected, we report the initial results of MR angiography screening of FDRs-siblings, parents, and children-of those affected with an IA in a multicenter study of familial IA. We also report the predictors of IA detection on brain MR angiography among these FDRs. Clinical Materials and MethodsThe FIA study is an international, multicenter study including 26 clinical centers, which represents 41 recruitment sites in North America, New Zealand, and Australia. 2 The study was approved by the institutional review board/ethics committee at each of the study centers and recruitment sites.Families with multiple members in whom IAs were diagnosed were enrolled to identify the chromosomal regions associated with an increased risk of IA and to determine the effects of environmental factors on the expression of genes within these regions. Individuals with either ruptured or unruptured IAs were considered to have the phenotype. Patients were excluded if they had a fusiform IA; an intranidal aneurysm with an arteriovenous malformation; a family history of polycystic kidney disease, Ehlers-Danlos syndrome, Marfan syndrome, fibromuscular dysplasia, or moyamoya syndrome; or if informed consent could not be obtained from the patient or family members.Detailed medical records and the informa...

Extended Follow-Up of Unruptured Intracranial Aneurysms Detected by Presymptomatic Screening in Patients with Autosomal Dominant Polycystic Kidney Disease

“…These are slightly higher than those reported in non-ADPKD patients with one (2.6% to 5.8%) or two or more (3.9% to 14%) first-degree family members with a history of IA or SAH (19). The 16% to 21% prevalence in ADPKD patients with a family history of IA or SAH is similar to that observed in non-ADPKD individuals with two or more first-degree relatives with a history of IA or SAH plus a personal history of smoking or hypertension (approximately 19%) (20).…”

Impact of LIMK1, MMP2 and TNF-α variations for intracranial aneurysm in Japanese population

“…[3][4][5] Furthermore, several studies suggested an increased occurrence of IA and SAH in first-and second-degree relatives of SAH, with the incidence rate of 6-10%. [6][7][8][9] Several Mendelian disorders, such as autosomal-dominant polycystic kidney disease and Ehlers-Danlos syndrome type IV are associated with an increased risk of IA formation. 10,11 All these evidence fortified the roles of genetic factors in the pathogenesis of IA.…”

Guidelines for the Management of Aneurysmal Subarachnoid Hemorrhage

“…26,27 Smaller studies have suggested that screening of those with 1 first-degree relative with aSAH may be justified as well, but it is far less clear whether patients who underwent treatment for a previous aSAH require ongoing screening. 51,52 In the Cerebral Aneurysm Rerupture After Treatment (CARAT) study, recurrent aSAH was predicted by incomplete obliteration of the aneurysm and occurred a median of 3 days after treatment but rarely after 1 year. 53 Repeated noninvasive screening at later times may not be cost-effective, increase life expectancy, or improve quality of life in unselected patients.…”