Phenotypic variability in familial hypercholesterolaemia: an update

Angelique C. M. Jansen, Sanne van Wissen, Joep C. Defesche, John J. P. Kastelein

Research output: Contribution to journalReview articleAcademicpeer-review

78 Citations (Scopus)

Abstract

Heterozygous familial hypercholesterolaemia is among the most common inherited dominant disorders, and is characterized by severely elevated LDL-cholesterol levels and premature cardiovascular disease. Although the cause of familial hypercholesterolaemia is monogenic, there is a substantial variation in the onset and severity of atherosclerotic disease symptoms. Additional atherogenic risk factors of environmental, metabolic and genetic origin, in conjunction with the LDL receptor defect, are presumed to influence the clinical phenotype in familial hypercholesterolaemia. The present review discusses recent developments in this field. Curr Opin Lipidol 13:165-171. (C) 2002 Lippincott Williams Wilkins
Original languageEnglish
Pages (from-to)165-171
JournalCurrent opinion in lipidology
Volume13
Issue number2
DOIs
Publication statusPublished - 2002

Cite this