Identification of people with heterozygous familial hypercholesterolemia.
OBJECTIVE
Familial hypercholesterolemia is an underdiagnosed autosomal codominant genetic condition associated with significantly increased risk of early cardiovascular disease when untreated. Early diagnosis and treatment decrease the excess risk, and strategies for identification of affected individuals are being developed worldwide. This review will discuss, from a clinician's perspective, some of the issues involved in identifying people with familial hypercholesterolemia.


RESULTS
Several sets of recommendations have been published outlining the strategies for identification of people with familial hypercholesterolemia in various countries and regions. These include Australasia, Europe, and the USA.


CONCLUSIONS
Continuing efforts to find the best methods for identification of people with familial hypercholesterolemia are needed to ensure that this very treatable inherited condition is diagnosed early enough to prevent the development of atherosclerotic vascular disease.
Division of Endocrinology, Metabolism, and Lipid Research, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Annie
A
Haase
Anne C
AC
Goldberg
D003362:Cost-Benefit Analysis; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics*; D008403:Mass Screening / Q000191:economics; D017410:Practice Guidelines as Topic