Severe familial hypercholesterolaemia: Current and future management

Archives of Cardiovascular Diseases

Volumn 105, Issue 12, 2012, Pages 656-665

  Farnier, Michel ^a   Bruckert, Eric ^b  

^a Point Medical   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Cardiovascular disease; Familial hypercholesterolaemia; New agents; Severe hypercholesterolaemia; Treatment

Indexed keywords

ALIROCUMAB; ANACETRAPIB; EZETIMIBE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LIPOPROTEIN A; LOMITAPIDE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MIPOMERSEN; VERY LOW DENSITY LIPOPROTEIN;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; AORTA SUPRAVALVULAR STENOSIS; AORTA VALVE DISEASE; ARTICLE; CARDIOVASCULAR RISK; CHOLESTEROL BLOOD LEVEL; CROSS-SECTIONAL STUDY; DISEASE SEVERITY; DRUG DOSE INCREASE; ENVIRONMENTAL FACTOR; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY HISTORY; FLU LIKE SYNDROME; GASTROINTESTINAL SYMPTOM; HEREDITY; HIGH RISK PATIENT; HUMAN; INJECTION SITE PAIN; INJECTION SITE PRURITUS; INJECTION SITE REACTION; INJECTION SITE SWELLING; LIFESTYLE MODIFICATION; META ANALYSIS (TOPIC); PHASE 1 CLINICAL TRIAL (TOPIC); PHASE 2 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); PHENOTYPE; PROGNOSIS; RANDOMIZED CONTROLLED TRIAL (TOPIC); SIDE EFFECT; XANTHOMA;

EID: 84870847595     PISSN: 18752136     EISSN: 18752128     Source Type: Journal    
DOI: 10.1016/j.acvd.2012.05.011     Document Type: Review

References (50)

1. J.L. Goldstein, H.H. Hobbs, and M.S. Brown Familial hypercholesterolemia C.R. Scriver, A.L. Beaudet, W.S. Sly, The metabolic and molecular bases of inherited disease 2001 McGraw-Hill New York 2863 2913
2. NICE. Identification and management of familial hypercholesterolaemia. Clinical guidelines 2008; CG71: available at: http://www.nice.org.uk/CG071.
3. J.G. Robinson, and A.C. Goldberg Treatment of adults with familial hypercholesterolemia and evidence for treatment: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia J Clin Lipidol 5 2011 S18 S29
4. M. Varret, M. Abifadel, and J.P. Rabes Genetic heterogeneity of autosomal dominant hypercholesterolemia Clin Genet 73 2008 1 13
5. F.J. Raal, G.J. Pilcher, and V.R. Panz Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy Circulation 124 2011 2202 2207
6. D.J. Rader, J. Cohen, and H.H. Hobbs Monogenic hypercholesterolemia: new insights in pathogenesis and treatment J Clin Invest 111 2003 1795 1803
7. M. Marduel, A. Carrie, and A. Sassolas Molecular spectrum of autosomal dominant hypercholesterolemia in France Hum Mutat 31 2010 E1811 E1824
8. E.S. van Aalst-Cohen, A.C. Jansen, and S. de Jongh Clinical, diagnostic, and therapeutic aspects of familial hypercholesterolemia Semin Vasc Med 4 2004 31 41
9. K. Herman, C. Van Heyningen, and D. Wile Cascade screening for familial hypercholesterolaemia and its effectiveness in the prevention of vascular disease Br J Diabete Vasc Dis 9 2009 171 174
10. D. Marks, D. Wonderling, and M. Thorogood Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia BMJ 324 2002 1303
11. M.A. Austin, C.M. Hutter, and R.L. Zimmern Familial hypercholesterolemia and coronary heart disease: a HuGE association review Am J Epidemiol 160 2004 421 429
12. 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
13. O.W. Souverein, J.C. Defesche, and A.H. Zwinderman Influence of LDL-receptor mutation type on age at first cardiovascular event in patients with familial hypercholesterolaemia Eur Heart J 28 2007 299 304
14. A.C. 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 J Intern Med 256 2004 482 490
15. G.R. Thompson, A. Catapano, and S. Saheb Severe hypercholesterolaemia: therapeutic goals and eligibility criteria for LDL apheresis in Europe Curr Opin Lipidol 21 2010 492 498
16. M.S. Nenseter, H.W. Lindvig, and T. Ueland Lipoprotein(a) levels in coronary heart disease-susceptible and -resistant patients with familial hypercholesterolemia Atherosclerosis 216 2011 426 432
17. Z. Reiner, A.L. Catapano, and G. De Backer ESC/EAS Guidelines for the management of dyslipidaemias: the Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS) Eur Heart J 32 2011 1769 1818
18. M.K. Ito, M.P. McGowan, and P.M. Moriarty Management of familial hypercholesterolemias in adult patients: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia J Clin Lipidol 5 2011 S38 S45
19. C. Baigent, A. Keech, and P.M. Kearney 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
20. C. Baigent, L. Blackwell, and J. Emberson 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
21. 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
22. J. Versmissen, D.M. Oosterveer, and M. Yazdanpanah Efficacy of statins in familial hypercholesterolaemia: a long-term cohort study BMJ 337 2008 a2423
23. J. Armitage The safety of statins in clinical practice Lancet 370 2007 1781 1790
24. E. Stein, S. Stender, and P. Mata Achieving lipoprotein goals in patients at high risk with severe hypercholesterolemia: efficacy and safety of ezetimibe co-administered with atorvastatin Am Heart J 148 2004 447 455
25. R. Huijgen, E.J. Abbink, and E. Bruckert Colesevelam added to combination therapy with a statin and ezetimibe in patients with familial hypercholesterolemia: a 12-week, multicenter, randomized, double-blind, controlled trial Clin Ther 32 2010 615 625
26. R. Huijgen, I. Kindt, and S.B. Verhoeven Two years after molecular diagnosis of familial hypercholesterolemia: majority on cholesterol-lowering treatment but a minority reaches treatment goal PLoS One 5 2010 e9220
27. A.H. Pijlman, R. Huijgen, and S.N. Verhagen Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in The Netherlands Atherosclerosis 209 2010 189 194
28. D.M. Kolansky, M. Cuchel, and B.J. Clark Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia Am J Cardiol 102 2008 1438 1443
29. L.C. Hudgins, B. Kleinman, and A. Scheuer Long-term safety and efficacy of low-density lipoprotein apheresis in childhood for homozygous familial hypercholesterolemia Am J Cardiol 102 2008 1199 1204
30. G.R. Thompson Lipoprotein apheresis Curr Opin Lipidol 21 2010 487 491
31. A.D. Marais, F.J. Raal, and E.A. Stein A dose-titration and comparative study of rosuvastatin and atorvastatin in patients with homozygous familial hypercholesterolaemia Atherosclerosis 197 2008 400 406
32. F.J. Raal, A.S. Pappu, and D.R. Illingworth Inhibition of cholesterol synthesis by atorvastatin in homozygous familial hypercholesterolaemia Atherosclerosis 150 2000 421 428
33. C. Gagne, D. Gaudet, and E. Bruckert Efficacy and safety of ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolemia Circulation 105 2002 2469 2475
34. D.A. Bell, A.J. Hooper, and Burnett J.R. Mipomersen an antisense apolipoprotein B synthesis inhibitor Expert Opin Investig Drugs 20 2011 265 272
35. F. Akdim, E.S. Stroes, and E.J. Sijbrands Efficacy and safety of mipomersen, an antisense inhibitor of apolipoprotein B, in hypercholesterolemic subjects receiving stable statin therapy J Am Coll Cardiol 55 2010 1611 1618
36. F. Akdim, D.L. Tribble, and J.D. Flaim Efficacy of apolipoprotein B synthesis inhibition in subjects with mild-to-moderate hyperlipidaemia Eur Heart J 32 2011 2650 2659
37. F. Akdim, M.E. Visser, and D.L. Tribble Effect of mipomersen, an apolipoprotein B synthesis inhibitor, on low-density lipoprotein cholesterol in patients with familial hypercholesterolemia Am J Cardiol 105 2010 1413 1419
38. J.J. Kastelein, M.K. Wedel, and B.F. Baker Potent reduction of apolipoprotein B and low-density lipoprotein cholesterol by short-term administration of an antisense inhibitor of apolipoprotein B Circulation 114 2006 1729 1735
39. F.J. Raal, R.D. Santos, and D.J. Blom Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial Lancet 375 2010 998 1006
40. J-C. Tardif, M. McGowan, and R. Ceska Apolipoprotein B synthesis inhibition by mipomersen reduces low-density lipoprotein cholesterol when added to maximally tolerated lipid-lowering medication in patients with severe heterozygous hypercholesterolemia J Am Coll Cardiol 57 2011 E492
41. M.E. Visser, F. Akdim, and D.L. Tribble Effect of apolipoprotein-B synthesis inhibition on liver triglyceride content in patients with familial hypercholesterolemia J Lipid Res 51 2010 1057 1062
42. M. Cuchel, L.T. Bloedon, and P.O. Szapary Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia N Engl J Med 356 2007 148 156
43. F.F. Samaha, J. McKenney, and L.T. Bloedon Inhibition of microsomal triglyceride transfer protein alone or with ezetimibe in patients with moderate hypercholesterolemia Nat Clin Pract Cardiovasc Med 5 2008 497 505
44. M. Farnier The role of proprotein convertase subtilisin/kexin type 9 in hyperlipidemia: focus on therapeutic implications Am J Cardiovasc Drugs 11 2011 145 152
45. J.C. Cohen, E. Boerwinkle, and T.H. Mosley Jr. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease N Engl J Med 354 2006 1264 1272
46. J.A. Hedrick Targeting PCSK9 for the treatment of hypercholesterolemia Curr Opin Investig Drugs 10 2009 938 946
47. J.C. Chan, D.E. Piper, and Q. Cao A proprotein convertase subtilisin/kexin type 9 neutralizing antibody reduces serum cholesterol in mice and nonhuman primates Proc Natl Acad Sci U S A 106 2009 9820 9825
48. G. Swergold, W. Smith, and S. Mellis Inhibition of proprotein convertase subtilisin/kexin type 9 with a monoclonal antibody REGN727/SAR236553, effectively reduces low-density-lipoprotein cholesterol, as mono or add-on therapy in heterozygous familial and non familial hypercholesterolemia Circulation 124 suppl. 2011 A16265
49. J.M. McKenney, M.J. Koren, and D.J. Kereiakes Safety and efficacy of a monoclonal antibody to proprotein Convertase Subtilisin/Kexin Type 9 serine protease, SAR236553/REGN727, in patients with primary hypercholesterolemia receiving ongoing stable atorvastatin therapy J Am Coll Cardiol 59 2012 2344 2353
50. C.P. Cannon, S. Shah, and H.M. Dansky Safety of anacetrapib in patients with or at high risk for coronary heart disease N Engl J Med 363 2010 2406 2415