Copyright © 2004 by the Johns Hopkins Bloomberg School of Public Health
HUMAN GENOME EPIDEMIOLOGY (HuGE) REVIEW |
Genetic Causes of Monogenic Heterozygous Familial Hypercholesterolemia: A HuGE Prevalence Review
1 Institute for Public Health Genetics and Department of Epidemiology, School of Public Health and Community Medicine, University of Washington, Seattle, WA.
2 Public Health Genetics Unit, Strangeways Research Laboratory, University of Cambridge, Cambridge, United Kingdom.
3 Center for Genetics of Cardiovascular Disorders, British Heart Foundation Laboratories, Department of Medicine, Royal Free and University College London Medical School, London, United Kingdom.
The clinical phenotype of heterozygous familial hypercholesterolemia (FH) is characterized by increased plasma levels of total cholesterol and low density lipoprotein cholesterol, tendinous xanthomata, and premature symptoms of coronary heart disease. It is inherited as an autosomal dominant disorder with homozygotes having a more severe phenotype than do heterozygotes. FH can result from mutations in the low density lipoprotein receptor gene (LDLR), the apolipoprotein B-100 gene (APOB), and the recently identified proprotein convertase subtilisin/kexin type 9 gene (PCSK9). To date, over 700 variants have been identified in the LDLR gene. With the exception of a small number of founder populations where one or two mutations predominate, most geographically based surveys of FH subjects show a large number of mutations segregating in a given population. Studies of the prevalence of FH would be improved by the use of a consistent and uniformly applied clinical definition. Because FH responds well to drug treatment, early diagnosis to reduce atherosclerosis risk is beneficial. Cascade testing of FH family members is cost effective and merits further research. For screening to be successful, public health and general practitioners need to be aware of the signs and diagnosis of FH and the benefits of early treatment.
APOB; epidemiology; genetics; hypercholesterolemia, familial; LDLR; receptors, LDL
Abbreviations: Abbreviations: FH, familial hypercholesterolemia; LDL, low density lipoprotein.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  M. Junyent, R. Gilabert, D. Zambon, M. Pocovi, M. Mallen, M. Cofan, I. Nunez, F. Civeira, D. Tejedor, and E. Ros Femoral Atherosclerosis In Heterozygous Familial Hypercholesterolemia: Influence Of The Genetic Defect Arterioscler. Thromb. Vasc. Biol., March 1, 2008; 28(3): 580 - 586. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 F. Cambien and L. Tiret Genetics of Cardiovascular Diseases: From Single Mutations to the Whole Genome Circulation, October 9, 2007; 116(15): 1714 - 1724. [Full Text] [PDF]
|
|
|
|
|
|
R.-E. W. Kavey, V. Allada, S. R. Daniels, L. L. Hayman, B. W. McCrindle, J. W. Newburger, R. S. Parekh, and J. Steinberger Cardiovascular Risk Reduction in High-Risk Pediatric Patients: A Scientific Statement From the American Heart Association Expert Panel on Population and Prevention Science; the Councils on Cardiovascular Disease in the Young, Epidemiology and Prevention, Nutrition, Physical Activity and Metabolism, High Blood Pressure Research, Cardiovascular Nursing, and the Kidney in Heart Disease; and the Interdisciplinary Working Group on Quality of Care and Outcomes Research: Endorsed by the American Academy of Pediatrics Circulation, December 12, 2006; 114(24): 2710 - 2738. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. Lambert, A.-L. Jarnoux, T. Pineau, O. Pape, M. Chetiveaux, C. Laboisse, M. Krempf, and P. Costet Fasting Induces Hyperlipidemia in Mice Overexpressing Proprotein Convertase Subtilisin Kexin Type 9: Lack of Modulation of Very-Low-Density Lipoprotein Hepatic Output by the Low-Density Lipoprotein Receptor Endocrinology, October 1, 2006; 147(10): 4985 - 4995. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. Yuan, J. Wang, and R. A. Hegele Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease. Can. Med. Assoc. J., April 11, 2006; 174(8): 1124 - 1129. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. Bronner, A. M. Sattler, A. Hinney, M. Soufi, F. Geller, H. Schafer, B. Maisch, J. Hebebrand, and J. R. Schaefer The 103I Variant of the Melanocortin 4 Receptor Is Associated with Low Serum Triglyceride Levels J. Clin. Endocrinol. Metab., February 1, 2006; 91(2): 535 - 538. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. A. Austin, C. M. Hutter, R. L. Zimmern, and S. E. Humphries Familial Hypercholesterolemia and Coronary Heart Disease: A HuGE Association Review Am. J. Epidemiol., September 1, 2004; 160(5): 421 - 429. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. M. Hutter, M. A. Austin, and S. E. Humphries Familial Hypercholesterolemia, Peripheral Arterial Disease, and Stroke: A HuGE Minireview Am. J. Epidemiol., September 1, 2004; 160(5): 430 - 435. [Abstract] [Full Text] [PDF]
|
|