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Familial Intracranial Aneurysms: Recurrence Risk and Accidental Aggregation Study

Published online by Cambridge University Press:  18 September 2015

Jean Mathieu ,
Gilles Hébert ,
Louis Pérusse ,
Claude Prévost ,
Léo Cantin ,
Jean-Marie Bouchard  and
Marc DeBraekeleer
Jean Mathieu*
Affiliation:
Unité de recherche clinique, Complexe Hospitalier de la Sagamie, Chicoutimi Université du Québec à Chicoutimi, Chicoutimi
Gilles Hébert
Affiliation:
Groupe de recherche ECOBES, Cegep de Jonquière, Jonquière
Louis Pérusse
Affiliation:
Groupe de recherche ECOBES, Cegep de Jonquière, Jonquière Université Laval, Québec
Claude Prévost
Affiliation:
Unité de recherche clinique, Complexe Hospitalier de la Sagamie, Chicoutimi
Léo Cantin
Affiliation:
Unité de recherche clinique, Complexe Hospitalier de la Sagamie, Chicoutimi
Jean-Marie Bouchard
Affiliation:
Université Laval, Québec Hôpital Enfant-Jésus, Québec, Québec
Marc DeBraekeleer
Affiliation:
Unité de recherche clinique, Complexe Hospitalier de la Sagamie, Chicoutimi Université du Québec à Chicoutimi, Chicoutimi
*
Unité de recherche clinique, Complexe Hospitalier de la Sagamie, 305 Saint-Vallier, Chicoutimi, Québec, Canada G7H 5H6
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Abstract:

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Background:

The Saguenay-Lac-Saint-Jean (SLSJ) region is a geographically isolated area (population 285,955) located in the Northeastern part of the Province of Quebec, Canada. Using a population-based register, the genealogical reconstruction of 502 individuals with ruptured intracranial aneurysm (RIA) showed a familial aggregation (the presence of aneurysm in two or more first- to third-degree relatives) for 144 (28.7%) of them; this proportion is much higher than reported elsewhere.

Objective:

In order to assess the genetic predisposition to RIA in the SLSJ population, the objective of the present study is to compare familial and non-familial cases and to provide an estimate of the recurrence risk ratio for siblings.

Results:

The age at the time of rupture, the number of intracranial aneurysms for each patient and the location of RIAs were not statistically different in the familial versus the non-familial group. Of the 3449 siblings, 20 (0.58%) had suffered a RIA. The recurrence risk ratio calculated for siblings (defined as the risk of disease among siblings divided by the estimated population prevalence) is 1.6 (CI 95% 1.0 - 2.4). In other respects, we observed very large kinships in the SLSJ population, with an average number of siblings of 7.2 (SD ± 3.4), ranging from 0 to 17 individuals. With such large families and on the basis of chance alone, we expected 31.3% of the patients to have at least one first- to third-degree relative with RIA.

Conclusion:

These data show that siblings of patients with RIA in the SLSJ population have a greater risk of RIA than the general population. Nevertheless, the largest part of the familial occurrence observed in the SLSJ region can be explained by accidental aggregation, due to large kinships. We propose that, in this population, an underlying genetic predisposition must be suspected only when three or more cases of RIA are identified among first- to third-degree relatives.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 24 , Issue 4 , November 1997 , pp. 326 - 331
Copyright
Copyright © Canadian Neurological Sciences Federation 1997

References

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