Familial Hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
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Goldstein, 1973, Hyperlipidemia in coronary heart disease. I. Lipid levels in 500 survivors of myocardial infarction, J Clin Invest, 52, 1533, 10.1172/JCI107331
Goldstein, 1973, Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia, J Clin Invest, 52, 1544, 10.1172/JCI107332
Williams, 1990, Population-based frequency of dyslipidemia syndromes in coronary-prone families in Utah, Arch Intern Med, 150, 582, 10.1001/archinte.1990.00390150076015
Genest, 1992, Familial lipoprotein disorders in patients with premature coronary artery disease, Circulation, 85, 2025, 10.1161/01.CIR.85.6.2025
Patterson, 1972, Lipid abnormalities in male and female survivors of myocardial infarction and their first-degree relatives, Lancet, 1, 393, 10.1016/S0140-6736(72)90853-7
Koivisto, 1993, Prevalence of familial hypercholesterolemia among young north Karelian patients with coronary heart disease: a study based on diagnosis by polymerase chain reaction, J Lipid Res, 34, 269, 10.1016/S0022-2275(20)40754-0
Gaudet, 1998, Relative contribution of low-density lipoprotein receptor and lipoprotein lipase gene mutations to angiographically assessed coronary artery disease among French Canadians, Am J Cardiol, 82, 299, 10.1016/S0002-9149(98)00328-2
Rallidis, 2008, Long-term prognostic factors of young patients (<or=35 years) having acute myocardial infarction: the detrimental role of continuation of smoking, Eur J Cardiovasc Prev Rehabil, 15, 567, 10.1097/HJR.0b013e32830774db
Dorsch, 2001, Familial hypercholesterolaemia is underdiagnosed after AMI, BMJ, 322, 111, 10.1136/bmj.322.7278.111
Hopkins, 2010, Encouraging appropriate treatment for familial hypercholesterolemia, Clinical Lipidology, 5, 339, 10.2217/clp.10.22
Avis, 2007, A systematic review and meta-analysis of statin therapy in children with familial hypercholesterolemia, Arterioscler Thromb Vasc Biol, 27, 1803, 10.1161/ATVBAHA.107.145151
Goldstein, 1979, The LDL receptor locus and the genetics of familial hypercholesterolemia, Annu Rev Genet, 13, 259, 10.1146/annurev.ge.13.120179.001355
Benlian, 2009, Diagnosis scoring for clinical identification of children with heterozygous familial hypercholesterolemia, J Pediatr Gastroenterol Nutr, 48, 456, 10.1097/MPG.0b013e3181810b30
Hopkins, 1991, Type III dyslipoproteinemia in patients heterozygous for familial hypercholesterolemia and apolipoprotein E2. Evidence for a gene-gene interaction, Arterioscler Thromb, 11, 1137, 10.1161/01.ATV.11.5.1137
Carmena, 2000, Coexisting dysbetalipoproteinemia and familial hypercholesterolemia. Clinical and laboratory observations, Atherosclerosis, 148, 113, 10.1016/S0021-9150(99)00212-9
Wu, 2000, Co-segregation of elevated LDL with a novel mutation (D92K) of the LDL receptor in a kindred with multiple lipoprotein abnormalities, J Hum Genet, 45, 154, 10.1007/s100380050202
Civeira, 2008, Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting, J Am Coll Cardiol, 52, 1546, 10.1016/j.jacc.2008.06.050
Khachadurian, 1973, Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients, Nutr Metab, 15, 132, 10.1159/000175431
Kuklina, 2011, Vital signs: prevalence, treatment, and control of high levels of low-density lipoprotein cholesterol—United States, 1999–2002 and 2005–200, MMWR Morb Mortal Wkly Rep, 60, 109
Goldstein, 2001, Familial hypercholesterolemia, 2863
Moriarty, 2006, LDL-apheresis therapy, Curr Treat Options Cardiovasc Med, 8, 282, 10.1007/s11936-006-0049-z
Watts, 2007, Familial hypercholesterolemia: a missed opportunity in preventive medicine, Nat Clin Pract Cardiovasc Med, 4, 404, 10.1038/ncpcardio0941
Austin, 2004, Familial hypercholesterolemia and coronary heart disease: a HuGE association review, Am J Epidemiol, 160, 421, 10.1093/aje/kwh237
Marks, 2003, A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia, Atherosclerosis, 168, 1, 10.1016/S0021-9150(02)00330-1
Kwiterovich, 2008, Recognition and management of dyslipidemia in children and adolescents, J Clin Endocrinol Metab, 93, 4200, 10.1210/jc.2008-1270
Horsthemke, 1987, Identification of deletions in the human low density lipoprotein receptor gene, J Med Genet, 24, 144, 10.1136/jmg.24.3.144
Hobbs, 1987, Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia, New Engl J Med, 317, 734, 10.1056/NEJM198709173171204
Hobbs, 1988, Multiple crm-mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions, J Clin Invest, 81, 909, 10.1172/JCI113402
Hobbs, 1990, The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein, Annu Rev Genet, 24, 133, 10.1146/annurev.ge.24.120190.001025
Hobbs, 1992, Molecular genetics of the LDL receptor gene in familial hypercholesterolemia, Hum Mutat, 1, 445, 10.1002/humu.1380010602
Langlois, 1988, Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH), Am J Hum Genet, 43, 60
Varret, 2008, Genetic heterogeneity of autosomal dominant hypercholesterolemia, Clin Genet, 73, 1, 10.1111/j.1399-0004.2007.00915.x
Innerarity, 1990, Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia, J Lipid Res, 31, 1337, 10.1016/S0022-2275(20)42605-7
Boren, 2001, The molecular mechanism for the genetic disorder familial defective apolipoprotein B100, J Biol Chem, 276, 9214, 10.1074/jbc.M008890200
Whitfield, 2004, Lipid disorders and mutations in the APOB gene, Clin Chem, 50, 1725, 10.1373/clinchem.2004.038026
Marz, 1992, Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient [letter], Lancet, 340, 10.1016/0140-6736(92)92554-S
Horton, 2007, Molecular biology of PCSK9: its role in LDL metabolism, Trends Biochem Sci, 32, 71, 10.1016/j.tibs.2006.12.008
Horton, 2009, PCSK9: a convertase that coordinates LDL catabolism, J Lipid Res, 50, S172, 10.1194/jlr.R800091-JLR200
Garcia, 2001, Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein, Science, 292, 1394, 10.1126/science.1060458
He, 2002, ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2, J Biol Chem, 277, 44044, 10.1074/jbc.M208539200
Soutar, 2007, Mechanisms of disease: genetic causes of familial hypercholesterolemia, Nat Clin Pract Cardiovasc Med, 4, 214, 10.1038/ncpcardio0836
Wang, 2004, Phenotypic heterogeneity of sitosterolemia, J Lipid Res, 45, 2361, 10.1194/jlr.M400310-JLR200
Wald, 2007, Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis, BMJ, 335, 599, 10.1136/bmj.39300.616076.55
Daniels, 2008, Lipid screening and cardiovascular health in childhood, Pediatrics, 122, 198, 10.1542/peds.2008-1349
Williams, 1993, Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics, Am J Cardiol, 72, 171, 10.1016/0002-9149(93)90155-6
Adult Treatment Panel III, 2002, Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) final report, Circulation, 106, 3143, 10.1161/circ.106.25.3143
Hopkins, 2002, Familial hypercholesterolemia, Current Treatment Options in Cardiovascular Medicine, 4, 121, 10.1007/s11936-002-0032-2
Campagna, 2008, Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening, Atherosclerosis, 196, 356, 10.1016/j.atherosclerosis.2006.11.015
Beeharry, 2006, Familial hypercholesterolaemia commonly presents with Achilles tenosynovitis, Ann Rheum Dis, 65, 312, 10.1136/ard.2005.040766
Gibson, 1987, Plasma lipoprotein distribution of apolipoprotein E in familial hypercholesterolemia, Arteriosclerosis, 7, 401, 10.1161/01.ATV.7.4.401
Berge, 2000, Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters, Science, 290, 1771, 10.1126/science.290.5497.1771
Civeira, 2004, Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia, Atherosclerosis, 173, 55, 10.1016/j.atherosclerosis.2003.11.010
Scientific Steering Committee on behalf of the Simon Broome Register Group, 1991, Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group, BMJ, 303, 893, 10.1136/bmj.303.6807.893
WHO Familial Hypercholesterolemia Consultation Group, 1998
Haddad, 1999, Evidence for a third genetic locus causing familial hypercholesterolaemia: a non-LDLR, non-apoB kindred, J Lipid Res, 40, 1113, 10.1016/S0022-2275(20)33515-X
Herman, 2009, Cascade screening for familial hypercholesterolaemia and its effectiveness in the prevention of vascular disease, Br J Diabet Vasc Dis, 9, 171, 10.1177/1474651409339989
Williams, 1993, Documented need for more effective diagnosis and treatment of familial hypercholesterolemia according to data from 502 heterozygotes in Utah, Am J Cardiol, 72, 18D, 10.1016/0002-9149(93)90006-X
Marks, 2002, Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia, BMJ, 324, 1303, 10.1136/bmj.324.7349.1303
Yuan, 2006, Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease, CMAJ, 174, 1124, 10.1503/cmaj.051313
Marteau, 2004, Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: a randomized controlled trial, Am J Med Genet A, 128, 285, 10.1002/ajmg.a.30102
Leren, 2004, Cascade genetic screening for familial hypercholesterolemia, Clin Genet, 66, 483, 10.1111/j.1399-0004.2004.00320.x
Graham, 2005, Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate, Atherosclerosis, 182, 331, 10.1016/j.atherosclerosis.2005.02.016
Pollex, 2007, Genomic copy number variation and its potential role in lipoprotein and metabolic phenotypes, Curr Opin Lipidol, 18, 174, 10.1097/MOL.0b013e32802e6c12
Watts, 2010, A new model of care for familial hypercholesterolaemia from Western Australia: closing a major gap in preventive cardiology, Heart Lung Circ, 19, 419, 10.1016/j.hlc.2010.02.002