Management of familial heterozygous hypercholesterolemia: Position paper of the polish lipid expert forum

Journal of Clinical Lipidology

Volumn 7, Issue 3, 2013, Pages 217-221

  Rynkiewicz, Andrzej ^a   Cybulska, Barbara ^b   Banach, Maciej ^c   Filipiak, Krzysztof ^d   Guzik, Tomasz ^e   Idzior Waluś, Barbara ^e   Imiela, Jacek ^f   Jankowski, Piotr ^e   Kłosiewicz Latoszek, Longina ^b,d   Limon, Janusz ^a   Myśliwiec, Małgorzata ^a   Opolski, Grzegorz ^d   Steciwko, Andrzej ^g   Stȩpińska, Janina ^h   Zdrojewski, Tomasz ^a  

^a MEDICAL UNIVERSITY OF GDANSK   (Poland)

^b NATIONAL FOOD AND NUTRITION INSTITUTE   (Poland)

^c MEDICAL UNIVERSITY OF LODZ   (Poland)

^d MEDICAL UNIVERSITY OF WARSAW   (Poland)

^e JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^f Miedzylesie Specialist Hospital   (Poland)

^g WROCLAW MEDICAL UNIVERSITY   (Poland)

^h INSTITUTE OF CARDIOLOGY   (Poland)

Author keywords

Diagnosis; Familial hypercholesterolemia; Heterozygous familial hypercholesterolemia; Prevention; Therapy

Indexed keywords

APOLIPOPROTEIN B; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; KEXIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; SUBTILISIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD PRESSURE; BODY WEIGHT; CHOLESTEROL BLOOD LEVEL; EXERCISE; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; HEART INFARCTION; HETEROZYGOTE; HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA; HYPERCHOLESTEROLEMIA; ISCHEMIC HEART DISEASE; LIFE EXPECTANCY; LIFESTYLE MODIFICATION; LOW FAT DIET; PATHOGENESIS; PHENOTYPE; POLAND; PRACTICE GUIDELINE; PRIORITY JOURNAL; REVASCULARIZATION; RISK FACTOR; SMOKING CESSATION; XANTHOMA;

ADULT; CHOLESTEROL, LDL; FEMALE; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; RISK FACTORS; YOUNG ADULT;

EID: 84878528941     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2013.01.005     Document Type: Article

References (31)

1. World Health Organization Familial hypercholesterolemia. A Report of a WHO consultation 1998 WHO Geneva, Switzerland
2. A.S. Wierzbicki, S.E. Humphries, R. Minhas Guideline Development Group Familial hypercholesterolaemia: summary of NICE guidance BMJ 337 2008 a1095
3. Ž. Reiner, A.L. Catapano, and G. De Backer ESC/EAS guidelines for management of dyslipidemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS) Eur Heart J 32 2011 1769 1818
4. A. Neil, J. Cooper, and J. Betteridge Reductions in all-cause, cancer and coronary mortality in statin-treated patients with heterozygous hypercholesterolemia: a prospective registry study Eur Heart J 29 2008 2625 2633
5. G.F. Watts, B. Lewis, and D.R. Sullivan Familial hypercholesterolemia: a missed opportunity in preventive medicine Nat Clin Practice Cardiovasc Med 4 2007 404 405 (Pubitemid 47180321)
6. F. Civeira International Panel on Management of Familial Hypercholesterolemia Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia Atherosclerosis 173 2004 55 68 (Pubitemid 38224196)
7. M.S. Brown, and J.L. Goldstein How LDL receptors influence cholesterol and atherosclerosis Sci Am 251 1984 52 60
8. T.L. Innerarity, K.H. Weisgraber, and K.S. Arnold Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding Proc Natl Acad Sci U S A 84 1987 6919 6923 (Pubitemid 18025501)
9. M. Abifadel, M. Varret, and J.P. Rab Mutations in PCSK9 cause autosomal dominant hypercholesterolemia Nat Genet 34 2003 154 156 (Pubitemid 36666925)
10. M. Abifadel, J.P. Rabes, and M. Devillers Mutations and polymorphisms in the proprotein convertase subtilin kexin 9 (PCSK9) gene in cholesterol metabolism and disease Hum Mutat 30 2009 520 529
11. M. Varret, M. Abifadel, and J.P. Rabes Genetic heterogeneity of autosomal dominant hypercholesterolemia Clin Genet 78 2008 1 13 (Pubitemid 350263516)
12. M. Chmara, B. Wasa̧g, and J. Żuk Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations Limon J Appl Genet 51 2010 95 106
13. C.C. Huang, M. Fornage, and D.M. Lloyd-Jones Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study Circ Cardiovasc Genet 2 2009 354 361
14. M.A. Austin, C.M. Hutter, R.L. Zimmern, and S. Humphries Familial hypercholesterolemia and coronary heart disease: a HuGE association review Am J Epidemiol 160 2004 421 429 (Pubitemid 39166974)
15. J. Vermissen, D.M. Oosterveer, and M. Yazdanpanach Efficacy of statins in familial hypercholesterolemia: a long term cohort study BMJ 337 2008 a2423
16. 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
17. M.K. Ito, M.P. McGowan, and P.M. Moriaty Management of familial hyperlipidemias in adult patients. Recommendations from National Lipid Association Expert Panel of Familial Hypercholesterolemia J Clin Lipidol 5 Suppl 2011 S38 S45
18. T.P. Leren, T.H. Finborud, and T.E. Manshaus Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening Commun Genet 11 2008 26 35
19. R.A. Hegele Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia Genome 49 2006 1343 1350 (Pubitemid 46640322)
20. A.C. Goldberg, P.N. Hopkins, and P.P. Toth Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adults patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia J Clin Lipidol 5 3 suppl 2011 S1 S8
21. P. Nicholls, I. Young, and K. Lyttle Screening for familial hypercholesterolaemia. Early identification and treatment of patients is important BMJ 322 2001 1062
22. F. Civeira, E. Ros, and E. Jarauta Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia Am J Cardiol 102 2008 1187 1193
23. B.N. Datta, I.F. McDowell, and A. Rees Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia Curr Opin Lipidol 21 2010 366 371
24. J.C. Defesche Defining the challenges of FH Screening for familial hypercholesterolemia J Clin Lipidol 4 2010 338 341
25. D.M. Kusters, S.J. Homsma, and B.A. Hutten Dilemmas in treatment of women with familial hypercholesterolaemia during pregnancy Neth J Med 68 2010 299 303
26. E.A. Stein, S. Mellis, and G.D. Yancopoulos Effect of a monoclonal antibody to PCSK9 on LDL cholesterol N Engl J Med 366 2012 1108 1118
27. R.P. Giugliano, N.R. Desai, P. Kohli LAPLACE-TIMI 57 Investigators Efficacy, safety, and tolerability of a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 in combination with a statin in patients with hypercholesterolaemia (LAPLACE-TIMI 57): a randomised, placebo-controlled, dose-ranging, phase 2 study Lancet 380 2012 2007 2017
28. F. Raal, R. Scott, and R. Somaratne Low-density lipoprotein cholesterol-lowering effects of AMG 145, a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 serine protease in patients with heterozygous familial hypercholesterolemia: the Reduction of LDL-C With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder (RUTHERFORD) randomized trial Circulation 126 2012 2408 2417
29. 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
30. E.A. Stein, D. Gipe, and J. Bergeron Effect of a monoclonal antibody to PCSK9, REGN727/SAR236553, to reduce low-density lipoprotein cholesterol in patients with heterozygous familial hypercholesterolaemia on stable statin dose with or without ezetimibe therapy: a phase 2 randomised controlled trial Lancet 380 2012 29 36
31. D. Sullivan, A.G. Olsson, and R. Scott Effect of a monoclonal antibody to PCSK9 on low-density lipoprotein cholesterol levels in statin-intolerant patients. The GAUSS randomized trial JAMA 308 2012 2497 2506