Key result
Despite the monogenic cause of familial hypercholesterolemia, cardiovascular disease susceptibility varies considerably, likely influenced by traditional risk factors and modifier genes.
Genetic profiling of cardiovascular disease risk in familial hypercholesterolemia may enable more individualized approaches to patient care.
May refine FH risk stratification beyond monogenic diagnosis; leaves open prospective validation of modifier genes.
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.
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Koeijvoets et al. (2006) conducted a review in Heterozygous familial hypercholesterolemia. Despite the monogenic cause of familial hypercholesterolemia, cardiovascular disease susceptibility varies considerably, likely influenced by traditional risk factors and modifier genes.
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