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J Am Coll Cardiol. 2014 May 20;63(19):1982-9. doi: 10.1016/j.jacc.2014.01.063. Epub 2014 Mar 13.

Lipoprotein(a) levels in familial hypercholesterolemia: an important predictor of cardiovascular disease independent of the type of LDL receptor mutation.

Author information

1
Department of Internal Medicine, IIS-Fundación Jiménez Díaz, Madrid, Spain. Electronic address: ralonso@fjd.es.
2
Bioinformatic Unit, Spanish National Cancer Research, Madrid, Spain.
3
Department of Epidemiology, Madrid Health Authority, Madrid, Spain.
4
Department of Internal Medicine, Instituto Maimonides de Investigación Biomédica de Córdoba/Hospital Universitario Reina Sofía, Córdoba, Spain.
5
Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain.
6
Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain.
7
Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain.
8
Department of Internal Medicine, Hospital de Terrassa, Terrassa, Spain.
9
Nutrition and Genomics Laboratory, Jean Mayer U.S. Department of Agriculture Human Nutrition Research Center on Aging, Tufts University, Boston, Massachusetts.
10
Fundación Hipercolesterolemia Familiar, Madrid, Spain.

Abstract

OBJECTIVES:

The aim of this study was to determine the relationship between lipoprotein(a) [Lp(a)] and cardiovascular disease (CVD) in a large cohort of patients with heterozygous familial hypercholesterolemia (FH).

BACKGROUND:

Lp(a) is considered a cardiovascular risk factor. Nevertheless, the role of Lp(a) as a predictor of CVD in patients with FH has been a controversial issue.

METHODS:

A cross-sectional analysis of 1,960 patients with FH and 957 non-FH relatives recruited for SAFEHEART (Spanish Familial Hypercholesterolemia Cohort Study), a long-term observational cohort study of a molecularly well-defined FH study group, was performed. Lp(a) concentrations were measured in plasma using an immunoturbidimetric method.

RESULTS:

Patients with FH, especially those with CVD, had higher Lp(a) plasma levels compared with their unaffected relatives (p < 0.001). A significant difference in Lp(a) levels was observed when the most frequent null and defective mutations in LDLR mutations were analyzed (p < 0.0016). On multivariate analysis, Lp(a) was an independent predictor of cardiovascular disease. Patients carrying null mutations and Lp(a) levels >50 mg/dl showed the highest cardiovascular risk compared with patients carrying the same mutations and Lp(a) levels <50 mg/dl.

CONCLUSIONS:

Lp(a) is an independent predictor of CVD in men and women with FH. The risk of CVD is higher in those patients with an Lp(a) level >50 mg/dl and carrying a receptor-negative mutation in the LDLR gene compared with other less severe mutations.

KEYWORDS:

LDL receptor mutations; cardiovascular disease; familial hypercholesterolemia; lipoprotein(a)

PMID:
24632281
DOI:
10.1016/j.jacc.2014.01.063
[Indexed for MEDLINE]
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