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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.

Authors
Journal
Clinical Chemistry and Laboratory Medicine (CCLM)
1434-6621
Publisher
Walter de Gruyter GmbH
Publication Date
Volume
46
Issue
6
Identifiers
DOI: 10.1515/cclm.2008.135
Keywords
  • Adolescent
  • Adult
  • Age Factors
  • Child
  • Cholesterol
  • Ldl
  • Denmark
  • False Negative Reactions
  • False Positive Reactions
  • Family
  • Female
  • Humans
  • Hypercholesterolemia
  • Male
  • Middle Aged
  • Netherlands
  • Norway
  • Sensitivity And Specificity
  • Sex Factors
Disciplines
  • Biology
  • Medicine

Abstract

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 utility in case identification, and to compare them with the published "Make early diagnosis to prevent disease" (MEDPED) cutoffs from the US.

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