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European Heart Journal Advance Access originally published online on November 7, 2006
European Heart Journal 2007 28(3):299-304; doi:10.1093/eurheartj/ehl366
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© The European Society of Cardiology 2006. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org

Influence of LDL-receptor mutation type on age at first cardiovascular event in patients with familial hypercholesterolaemia

Olga W. Souverein1,*, Joep C. Defesche2, Aeilko H. Zwinderman1, John J.P. Kastelein2 and Michael W.T. Tanck1

1 Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, PO Box 22700, 1100 DE Amsterdam, the Netherlands
2 Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands

Received 19 July 2006; revised 28 September 2006; accepted 19 October 2006; online publish-ahead-of-print 7 November 2006.

* Corresponding author. Tel: +31 20 566 6945; fax: +31 20 691 2683. E-mail address: o.w.souverein{at}amc.uva.nl

Aims To investigate the influence of different LDL-receptor (LDLR) gene mutations on age at first cardiovascular event in familial hypercholesterolaemia (FH) patients.

Methods and results Dutch FH patients (n = 862) with known LDLR mutations from a retrospective cohort study were included. A gamma frailty Cox model was used. An event was defined as the first cardiovascular event. Gender, hypertension, smoking, diabetes, HDL cholesterol, LDL cholesterol (LDL-C), or triglycerides were included as covariates. Furthermore, the effect of LDLR mutation type on LDL and HDL cholesterol levels was investigated using mixed effects models, including gender, smoking, body mass index, and age at time of lipid measurement as covariates. A total of 86 different LDLR mutations were present in this cohort. Twenty-two percent of patients experienced an event (median age: 47.1 year; range: 25.6–85.8 years). The effect of LDLR mutation type on event-free survival is only significant in the models without LDL-C levels. Also, LDLR mutation type was significantly associated with LDL-C levels (P = 0.007), but not with HDL cholesterol levels (P = 0.12).

Conclusion In the present study, LDL-C levels are a more important risk factor of event-free survival than the type of LDLR mutation.

Key Words: Cardiovascular disease • LDL-receptor mutations • Familial hypercholesterolaemia • Age of onset • Frailty model


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