Complex genetics of monogenic familial hypercholesterolemia

Authors: Koeijvoets, Kristel CMC; van der Net, Jeroen B; Dallinga-Thie, Geesje M; Steyerberg, Ewout W; Sijbrands, Eric JG

Source: Future Lipidology, Volume 1, Number 5, October 2006 , pp. 527-538(12)

Publisher: Future Medicine

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Future Lipidology addresses therapeutic strategies and emerging topics in this complex area of cardiovascular medicine. The journal delivers essential information in concise, at-a-glance article formats. Key advances in the field are reported and analyzed by international experts, providing an authoritative but accessible forum.
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Abstract:

Heterozygous familial hypercholesterolemia (FH) is an inherited disorder of lipid metabolism, leading to severely elevated low-density lipoprotein-cholesterol levels and an increased risk of cardiovascular disease (CVD). Despite the monogenic cause of FH, CVD susceptibility varies considerably. Traditional risk factors, a specific low-density lipoprotein receptor mutation and modifier genes have been suggested to influence susceptibility to CVD. With the completion of the Human Genome Project and the availability of high throughput molecular methods, we expect that the creation of a genetic fingerprint of CVD risk in FH is feasible in the coming years. The challenge remains to link genetic data and clinical information to refine individualized approaches to CVD care in FH patients.

Keywords: candidate genes; cardiovascular disease; familial hypercholesterolemia; genomics; low-density lipoprotein receptor mutation; risk factors

Document Type: Research article

DOI: 10.2217/17460875.1.5.527