Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing.

Journal article

BACKGROUND: The plasma total and low-density lipoprotein-cholesterol (LDL-C) levels that are used as diagnostic criteria for familial hypercholesterolaemia (FH) probands in the general population are too stringent for use in relatives, given the higher prior probability of a first-degree relative being FH (50% vs. 1/500). Our objective was therefore to develop more appropriate LDL-C cutoffs to identify "affected" first-degree relatives found by cascade testing, to test their accuracy and uti...

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Authors: Starr, B; Hadfield, S; Hutten, B; Lansberg, P; Leren, T

• Journal: Clinical chemistry and laboratory medicine : CCLM / FESCC
• Volume: 46
• Issue: 6
• Pages: 791-803
• Publication date: 2008-01-01
• DOI: 10.1515/cclm.2008.135
• EISSN: 1437-4331
• ISSN: 1434-6621
• Language: English
• Keywords: Adolescent; Netherlands; Male; Female; False Negative Reactions; Sensitivity and Specificity; Child; Cholesterol, LDL; Norway; Middle Aged; Hypercholesterolemia; False Positive Reactions; Humans; Adult; Sex Factors; Denmark; Family; Age Factors