Treatment of adults with familial hypercholesterolemia and evidence for treatment: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia

Journal of Clinical Lipidology

Volumn 5, Issue 3 SUPPL., 2011, Pages

  Robinson, Jennifer G ^a   Goldberg, Anne C ^b  

^a UNIVERSITY OF IOWA   (United States)

^b WASHINGTON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; ATORVASTATIN; BILE ACID SEQUESTRANT; COLESTIPOL; COLESTYRAMINE; EZETIMIBE; EZETIMIBE PLUS SIMVASTATIN; FIBRIC ACID DERIVATIVE; HIGH DENSITY LIPOPROTEIN; ICOSAPENTAENOIC ACID; LIPOPROTEIN A; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; NICOTINIC ACID; OMEGA 3 FATTY ACID; PRAVASTATIN; ROSUVASTATIN; SIMVASTATIN; STATIN; TRIACYLGLYCEROL;

ADD ON THERAPY; AORTA STENOSIS; APHERESIS; ARTICLE; ATHEROSCLEROSIS; ATHEROSCLEROTIC CARDIOVASCULAR DISEASE; BLOOD PRESSURE; BLOOD PRESSURE REGULATION; BLOOD VESSEL DIAMETER; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CHOLESTEROL BLOOD LEVEL; CHRONIC KIDNEY DISEASE; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; DIABETES MELLITUS; DIET; DISEASE ASSOCIATION; DISEASE COURSE; DRUG SAFETY; DRUG TOLERABILITY; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY HISTORY; GENETIC DISORDER; HEALTH CARE ORGANIZATION; HEART INFARCTION; HUMAN; HYPERCHOLESTEROLEMIA; ISCHEMIC HEART DISEASE; LOW DRUG DOSE; META ANALYSIS (TOPIC); METABOLIC SYNDROME X; MORTALITY; NATIONAL LIPID ASSOCIATION EXPERT PANEL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL (TOPIC); REMISSION; RISK ASSESSMENT; RISK REDUCTION; SMOKING CESSATION; STROKE; WEIGHT CONTROL;

ADULT; CHOLESTEROL, LDL; FEMALE; HUMANS; HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED;

EID: 79956288028     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2011.03.451     Document Type: Article

References (84)

1. A.S. Wierzbicki, S.E. Humphries, R. Minhas on behalf of the Guideline Development G Familial hypercholesterolaemia: summary of NICE guidance BMJ 337 2008 a1095
2. F. Wiesbauer, H. Blessberger, and D. Azar Familial-combined hyperlipidaemia in very young myocardial infarction survivors (<=40 years of age) Eur Heart J 30 2009 1073 1079
3. R. Alonso, N. Mata, and S. Castillo Cardiovascular disease in familial hypercholesterolaemia: Influence of low-density lipoprotein receptor mutation type and classic risk factors Atherosclerosis 200 2008 315 321
4. J. Ferrieres, J. Lambert, S. Lussier-Cacan, and J. Davignon Coronary artery disease in heterozygous hamilial hypercholesterolemia patients with the same LDL receptor gene mutation Circulation 92 1995 290 295
5. A.C.M. Jansen, E.S. van Aalst-Cohen, and M.W. Tanck The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients Journal of Internal Medicine 256 2004 482 490 (Pubitemid 39577582)
6. H.A.W. Neil, V. Seagroatt, and D.J. Betteridge Established and emerging coronary risk factors in patients with heterozygous familial hypercholesterolaemia Heart 90 2004 1431 1437 (Pubitemid 39626319)
7. S.E. Humphries, R.A. Whittall, and C.S. Hubbart Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk Journal of Medical Genetics 43 2006 943 949 (Pubitemid 46080192)
8. S. Bertolini, A. Cantafora, and M. Averna Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype Arterioscler Thromb Vasc Biol 20 2000 e41 e52
9. 3 I, Garcã-a-Garcã-a AB, Ascaso JF, Carmena R. Importance of HDL cholesterol levels and the total/ HDL cholesterol ratio as a risk factor for coronary heart disease in molecularly defined heterozygous familial hypercholesterolaemia. European Heart Journal. 2001;22:465-471.
10. J. Hill, M. Hayden, J. Frohlich, and P. Pritchard Genetic and environmental factors affecting the incidence of coronary artery disease in heterozygous familial hypercholesterolemia Arterioscler Thromb 11 1991 290 297
11. M. Junyent, R. Gilabert, and E. Jarauta Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia Atherosclerosis 208 2009 437 441
12. M.H. Miname, M.S. Ribeiro Ii, and J.P. Filho Evaluation of subclinical atherosclerosis by computed tomography coronary angiography and its association with risk factors in familial hypercholesterolemia Atherosclerosis 213 2010 486 491
13. National Cholesterol Education Panel 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 2002 3143 3421
14. J.G. Robinson, and N.J. Stone Identifying patients for aggressive cholesterol lowering: The risk curve concept Am J Cardiol 98 2006 1405 1408 (Pubitemid 44666653)
15. A.K. Marma, and D.M. Lloyd-Jones Systematic examination of the updated Framingham Heart Study general cardiovascular risk profile Circulation 120 2009 384 390
16. S. Mottillo, K.B. Filion, and J. Genest The Metabolic syndrome and cardiovascular risk: A systematic review and meta-analysis J Am Coll Cardiol 56 2010 1113 1132
17. S.M. Grundy, J.I. Cleeman, and C.N.B. Merz Implications of recent clinical trials for the National Cholesterol Education Program Adult Treatment Panel III guidelines Circulation 110 2004 227 239 (Pubitemid 38924592)
18. B.G. Nordestgaard, M.J. Chapman, and K. Ray Lipoprotein(a) as a cardiovascular risk factor: current status Eur Heart J 31 2010 2844 2853
19. P.R. Kamstrup Lipoprotein(a) and ischemic heart disease-A causal association? A review Atherosclerosis 211 2010 15 23
20. K. DeMott, L. Nherera, and E. Shaw Clinical Guidelines and Evidence Review for Familial hypercholesterolaemia: the identification and management of adults and children with familial hypercholesterolaemia 2008 National Collaborating Centre for Primary Care and Royal College of General Practitioners London
21. G. Watts, F. van Bockxmeer, T. Bates, J. Burnett, A. Juniper, and P. O'Leary A new model of care for familial hypercholesterolaemia from Western Australia: Closing a major gap in preventive cardiology Heart, Lung and Circ 19 2010 419 422
22. I. Graham, D. Atar, and K. Borch-Johnsen European guidelines on cardiovascular disease prevention in clinical practice: executive summary: Fourth Joint Task Force of the European Society of Cardiology and Other Societies on Cardiovascular Disease Prevention in Clinical Practice (Constituted by representatives of nine societies and by invited experts) Eur Heart J 28 2007 2375 2414 (Pubitemid 47542237)
23. J. Genest, R.F. McPherson, J, and T. Anderson Canadian Cardiovascular Society/Canadian guidelines for the diagnosis and treatment of dyslipidemia and prevention of cardiovascular disease in the adult - 2009 recommendations Can J Cardiol 25 2009 567 579
24. M. Law, and A.R. Rudnicka Statin safety: A systematic review Am J Cardiol 97 2006 S52 S60
25. J.M. McKenney, M.H. Davidson, T.A. Jacobson, and J.R. Guyton Final conclusions and recommendations of the National Lipid Association Statin Safety Assessment Task Force Am J Cardiol 97 2006 S89 S94
26. National Institute for Health and Clinical Excellence Statins for the prevention of cardiovascular events 2006 Technology Appraisal 94 London
27. M. Davidson, and J.G. Robinson Safety of aggressive lipid management J Am Coll Cardiol 49 2007 1753 1762 (Pubitemid 46617861)
28. D. Marks, M. Thorogood, H.A.W. Neil, and S.E. Humphries A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia Atherosclerosis 168 2003 1 14 (Pubitemid 36559596)
29. R. Minhas, S.E. Humphries, N. Qureshi, H.A.W. Neil on behalf of the Nice Guideline Development Group Controversies in familial hypercholesterolaemia: recommendations of the NICE Guideline Development Group for the identification and management of familial hypercholesterolaemia Heart 95 2009 584 587
30. J. Versmissen, D.M. Oosterveer, and M. Yazdanpanah Efficacy of statins in familial hypercholesterolaemia: a long term cohort study BMJ 337 2008 a2423
31. A. Neil, J. Cooper, and J. Betteridge Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study Eur Heart J 29 2008 2625 2633
32. Scandinavian Simvastatin Survival Study G Randomised trial of cholesterol lowering in 4444 patients with coronary heart disease: the Scandinavian Simvastatin Survival Study (4S) Lancet 344 1994 1383 1389
33. J. Shepherd, S. Cobbe, and I. Ford Prevention of coronary heart disease with pravastatin in men with hypercholesterolemia N Engl J Med 333 1995 1301 1307
34. H. Nakamura, K. Arakawa, and H. Itakura Primary prevention of cardiovascular disease with pravastatin in Japan (MEGA Study): a prospective randomised controlled trial Lancet 368 2006 1155 1163 (Pubitemid 44444932)
35. Cholesterol Treatment Trialists' (CTT) Collaborators Efficacy and safety of cholesterol-lowering treatment: prospective meta-analysis of data from 90,056 participants in 14 randomised trials of statins Lancet 366 2005 1267 1278
36. Cholesterol Treatment Trialists Collaboration Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170,000 participants in 26 randomised trials Lancet 376 2010 1670 1681
37. Report of a Research Committee to the Medical Research Council Controlled trial of soya-bean oil in myocardial infarction Lancet 2 1968 693 700
38. J.G. Robinson, B. Smith, N. Maheshwari, and H. Schrott Pleiotropic effects of statins: Benefit beyond cholesterol reduction? A meta-regression analysis J Am Coll Cardiol 46 2005 1855 1862 (Pubitemid 41579807)
39. J. Woodhill, A. Palmer, B. Leelathaepin, C. McGilchrist, and R. Blacket Low fat, low cholesterol diet in secondary prevention of coronary heart disease Adv Exp Med Biol 109 1978 317 330
40. P. Leren The effect of plasma cholesterol lowering diet in male survivors of myocardial infarction Acta Med Scand 466 1966 5 92
41. A. Dorr, K. Gundersen, J. Schneider Jr., T. Spencer, and W. Martin Colestipol hydrochloride in hypercholesterolemic patients - effect on serum cholesterol and mortality J Chron Dis 31 1978 5 14 (Pubitemid 8318407)
42. Lipid Research Clinics The Lipid Research Clinics Coronary Primary Prevention Trial results. I. Reduction in incidence of coronary heart disease JAMA 251 1984 351 364
43. Coronary Drug Project Clofibrate and niacin in coronary heart disease JAMA 231 1975 360 380
44. J.G. Robinson, S. Wang, B.J. Smith, and T.A. Jacobson Meta-analysis of the relationship between non-high-density lipoprotein cholesterol reduction and coronary heart disease risk J Am Coll Cardiol 53 2009 316 322
45. H. Buchwald, R. Varco, and J. Matts Effect of partial ileal bypass surgery on mortality and morbidity from coronary heart disease in patients with hypercholesterolemia. Report of the Program on the Surgical Control of the Hyperlipidemias (POSCH) N Engl J Med 323 1990 946 955 (Pubitemid 20332334)
46. V. Manninen, M.O. Elo, and M.H. Frick Lipid alterations and decline in the incidence of coronary heart disease in the Helsinki Heart Study JAMA 260 1988 641 651
47. M. Frick, O. Heinonen, J. Huttenen, P. Koskinen, M. Manttari, and V. Manninen Efficacy of gemfibrozil in dyslipidaemic subjects with suspected heart disease. An ancillary study in the Helsinki Heart Study frame population Ann Med 25 1993 41 45 (Pubitemid 23088759)
48. T.J. Smilde, S. van Wissen, H. Awollersheim, M.D. Trip, J.J.P. Kastelein, and A.F.H. Stalenhoef Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolemia (ASAP): a prospective, randomised, double-blind trial Lancet 357 2001 577 581 (Pubitemid 32179609)
49. S. van Wissen, T.J. Smilde, M.D. Trip, A.F.H. Stalenhoef, and J.J.P. Kastelein Long-term safety and efficacy of high-dose atorvastatin treatment in patients with familial hypercholesterolemia Am J Cardiol 95 2005 264 266 (Pubitemid 40092097)
50. J.J.P. Kastelein, P.T. Sager, E. de Groot, and E. Veltri Comparison of ezetimibe plus simvastatin versus simvastatin monotherapy on atherosclerosis progression in familial hypercholesterolemia: Design and rationale of the Ezetimibe and Simvastatin in Hypercholesterolemia Enhances Atherosclerosis Regression (ENHANCE) trial American Heart Journal 149 2005 234 239 (Pubitemid 40348528)
51. J.G. Robinson, and M. Davidson Is it over for ezetimibe? Exp Rev Cardiovasc Ther 6 2008 781 783
52. S. Sivapalaratnam, L.L. van Loendersloot, B.A. Hutten, J.J.P. Kastelein, M.D. Trip, and E. de Groot Long-term LDL-c lowering in heterozygous familial hypercholesterolemia normalizes carotid intima-media thickness Atherosclerosis 212 2010 571 574
53. N. Ijioma, and J. Robinson Current and emerging therapies in hypercholesterolemia: Focus on colesevelam Clin Med Rev Vasc Health 2 2010 21 40
54. A.B. Rossebo, T.R. Pedersen, and K. Boman Intensive lipid lowering with simvastatin and ezetimibe in aortic stenosis N Engl J Med 359 2008 1343 1356
55. I. Holme, K. Boman, and P. Brudi Observed and Predicted Reduction of Ischemic Cardiovascular Events in the Simvastatin and Ezetimibe in Aortic Stenosis Trial The American Journal of Cardiology 105 2010 1802 1808
56. Sharp Collaborative Group. Study of Heart and Renal Protection (SHARP): Randomized trial to assess the effects of lowering low-density lipoprotein cholesterol among 9,438 patients with chronic kidney disease. Am Heart J. 2010;160:785-794.e10.
57. Baigent C, Landray M, Investigators obotS. The results of the Study of Heart and Renal Protection (SHARP). Presentation at the American Society Nephrology Scientific Sessions. Denver, Co, 2010.
58. R. Peto, J. Emberson, and M. Landray Analyses of cancer data from three ezetimibe trials N Engl J Med 359 2008 1357 1366
59. E. Bruckert, J. Labreuche, and P. Amarenco Meta-analysis of the effect of nicotinic acid alone or in combination on cardiovascular events and atherosclerosis Atherosclerosis 210 2010 353 361
60. M. Briel, I. Ferreira-Gonzalez, and J.J. You Association between change in high density lipoprotein cholesterol and cardiovascular disease morbidity and mortality: systematic review and meta-regression analysis BMJ 338 2009 b92
61. National Heart L, and Blood Institute., AIM-HIGH: Niacin plus statin to prevent vascular events (NCT00120289) National Heart Lung and Blood Institute 2010
62. University of Oxford. Treatment of HDL to Reduce the Incidence of Vascular Events (HPS2-THRIVE). 2010.
63. J. Robinson Management of complex lipid abnormalities with a fixed dose combination of simvastatin and extended release niacin Vasc Health Risk Man 5 2009 31 43
64. The Accord Study Group Effects of Combination Lipid Therapy in Type 2 Diabetes Mellitus N Engl J Med 362 2010 1563 1574
65. M. Yokoyama, H. Origasa, and M. Matsuzaki Effects of eicosapentaenoic acid on major coronary events in hypercholesterolaemic patients (JELIS): a randomised open-label, blinded endpoint analysis Lancet 369 2007 1090 1098 (Pubitemid 46483662)
66. D. Kromhout, E.J. Giltay, and J.M. Geleijnse n-3 fatty acids and cardiovascular events after myocardial infarction New Engl J Med 363 2010 2015 2026
67. B. Rauch, R. Schiele, and S. Schneider OMEGA, a randomized, placebo-controlled trial to test the effect of highly purified omega-3 fatty acids on top of modern guideline-adjusted therapy after myocardial infarction Circulation 122 2010 2152 2159
68. P. Galan, E. Kesse-Guyot, S. Czernichow, S. Briancon, J. Blacher, and S. Hercberg Effects of B vitamins and omega 3 fatty acids on cardiovascular diseases: a randomised placebo controlled trial BMJ 341 2010
69. L.C. Hudgins, B. Kleinman, A. Scheuer, S. White, and B.R. Gordon Long-term safety and efficacy of low density lipoprotein apheresis in childhood for homozygous familial hypercholesterolemia Am J Cardiol 102 2008 1199 1204
70. H. Mabuchi, J. Koizumi, and M. Shimizu Long-term efficacy of low-density lipoprotein apheresis on coronary heart disease in familial hypercholesterolemia Am J Cardiol 82 1998 1489 1495 (Pubitemid 29006472)
71. G.R. Thompson, M. Barbir, and D. Davies Efficacy criteria and cholesterol targets for LDL apheresis Atherosclerosis 208 2009 317 321
72. G.R. Thompson Recommendations for the use of LDL apheresis Atherosclerosis 198 2008 247 255
73. S. Ward, M. Lloyd Jones, and A. Pandor A systematic review and economic evaluation of statin for the prevention of coronary events Health Technol Assess 11 2007
74. J.J.P. Kastelein, W. van der Stieg, and I. Holme Lipids, apoliproteins, and their ratios in relation to cardiovascular events with statin treatment Circulation 117 2008 3002 3009
75. AstraZeneca Pharmaceuticals. Crestor (rosuvstatin calcium) [prescribing information]. Wilmington, DE, 2010.
76. US Food and Drug Administration. FDA Drug Safety Communication: Ongoing safety review of high-dose Zocor (simvastatin) and increased risk of muscle injury. 2010.
77. J.K. Liao Safety and efficacy of statins in Asians Am J Cardiol 99 2007 410 414 (Pubitemid 46149563)
78. J.S.C. Smith, J. Allen, and S.N. Blair AHA/ACC guidelines for secondary prevention for patients with coronary and other atherosclerotic vascular disease: 2006 update: Endorsed by the National Heart, Lung, and Blood Institute J Am Coll Cardiol 47 2006 2130 2139 (Pubitemid 44275145)
79. Pijlman AH, Huijgen R, Verhagen SN, et al. Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in The Netherlands. Atherosclerosis.;209:189-194.
80. Oosterveer DlM, Versmissen J, Yazdanpanah M, Defesche JC, Kastelein JJP, Sijbrands EJG. The risk of tendon xanthomas in familial hypercholesterolaemia is influenced by variation in genes of the reverse cholesterol transport pathway and the low-density lipoprotein oxidation pathway. European Heart Journal. 2010;31:1007-1012.
81. D.M. Oosterveer, J. Versmissen, M. Yazdanpanah, T.H. Hamza, and E.J.G. Sijbrands Differences in characteristics and risk of cardiovascular disease in familial hypercholesterolemia patients with and without tendon xanthomas: A systematic review and meta-analysis Atherosclerosis 207 2009 311 317
82. Finn AV, Kolodgie FD, Virmani R. Correlation between carotid intimal/medial thickness and atherosclerosis: a point of view from pathology. Arterioscler Thromb Vasc Biol;30:177-181.
83. P. Costanzo, P. Perrone-Filardi, and E. Vassallo Does carotid intima-media thickness regression predict reduction of cardiovascular events?: A meta-analysis of 41 randomized trials J Am Coll Cardiol 56 2010 2006 2020
84. P.A. MCullough, and K.M. Chinnaiyan Annual progression of coronary calcification in trials of preventive therapies Arch Intern Med 169 2009 2064 2070