Full-text resources of CEJSH and other databases are now available in the new Library of Science.
Visit https://bibliotekanauki.pl

PL EN


2013 | 1 | 51-54

Article title

Postępowanie w heterozygotycznej hipercholesterolemii rodzinnej. Stanowisko Forum Ekspertów Lipidowych

Content

Title variants

Languages of publication

PL

Abstracts

Keywords

References

  • Familial hypercholesterolemia. A report of a WHO consultation. WHO , Geneva, Switzerland, 1998.
  • Wierzbicki AS, Humphries SE , Minhas R, on behalf of the Guideline Development Group. Familial hypercholesterolaemia:summary of NICE guidance. BMJ 2008; 337: a1095.
  • Reiner Ž, Catapano AL, De Backer G, et al. ESC /EAS guidelines for management of dyslipidemias of the European Society of Cardiology (ESC ) and the European Atherosclerosis Society (EAS). Eur Heart J 2011; 32: 1769–1818.
  • Neil A, Cooper J, Betteridge J, et al. Reductions in all-cause, cancer and coronary mortality in statin-treated patients with heterozygous hypercholesterolemia: a prospective registry study. Eur Heart J 2008; 29: 2625–2633.
  • Watts GF, Lewis B, Sullivan DR . Familial hypercholesterolemia: a missed opportunity in preventive medicine. Nature Clin Pract Cardiovasc Med 2007; 4: 404–405.
  • Civeira F. International Panel on Management of Familial Hypercholesterolemia. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis 2004; 173(1): 55–68.
  • Brown MS, Goldstein JL . How LDL receptors influence cholesterol and atherosclerosis. Sci Am 1984; 251(3): 52–60.
  • Innerarity TL , Weisgraber KH , Arnold KS , et al. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. Proc Natl Acad Sci USA 1987; 84: 6919–6923.
  • Abifadel M, Varret M, Rab JP , et al. Mutations in PCSK 9 cause autosomal dominant hypercholesterolemia. Nat Genet 2003;34: 154–156.
  • Abifadel M, Rabes JP , Devillers M, et al. Mutations and polymorphisms in the Proprotein Convertase Subtilin Kexin 9 (PCSK 9)Gene in cholesterol metabolism and disease. Hum Mutat 2009; 30: 520–529.
  • Varret M, Abifadel M, Rabes JP , et al. Genetic heterogeneity of autosomal dominant hypercholesterolemia. Clin Gen 2008;78: 1–13.
  • Chmara M, Wasąg B, Żuk J, et al. Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. Limon J Appl Genet 2010; 51(1): 95–106
  • Huang CC , Fornage M, Lloyd-Jones DM, et al. Longitudinal association of PCSK 9 sequence variations with low-density lipoprotein cholesterol levels the coronary artery risk development in young adults study. Circ Cardiovasc Genet 2009; 2: 354–361.
  • Austin MA, Hutter CM, Zimmern RL , et al. Familial hypercholesterolemia and coronary heart disease: a H uGE association review. Am J Epidemiol 2004; 160: 421–429.
  • Vermissen J, Oosterveer DM, Yazdanpanach M, et al. Efficacy of statins in familial hypercholesterolemia: a long term cohort study. BMJ 2008; 337: a2423.
  • 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 2010; 209: 189–194.
  • Ito MK, McGowan MP, Moriaty PM. Management of familial hyperlipidemias in adult patients. Recommendations from National Lipid Association Expert Panel of Familial Hypercholesterolemia. J Clin Lipidol 2011; 5(Suppl.): S38–S45.
  • Leren TP , Finborud TH , Manshaus TE , et al. Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening. Commun Genet 2008; 11: 26–35.
  • Hegele RA. Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia. Genome (Canada) 2006; 49: 343–350.
  • Goldberg AC, Hopkins PN , Toth PP , et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adults patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.
  • and adults patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.J Clin Lipidol 2011; 5(3 Suppl.): S1–S8.
  • J Clin Lipidol 2011; 5(3 Suppl.): S1–S8.
  • 21. Nicholls P, Young I, Lyttle K, et al. Screening for familial hypercholesterolaemia. Early identification and treatment of patients
  • is important. BMJ 2001; 322: 1062.
  • 22. Civeira F, Ros E, Jarauta E, et al. Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia. Am J Cardiol
  • 2008; 102: 1187–1193.
  • 23. Datta BN, McDowell IF , Rees A. Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia.
  • Curr Opin Lipidol 2010; 21(4): 266–271
  • 24. Defesche JC . Defining the challenges of FH Screening for familial hypercholesterolemia. J Clin Lipidol 2010; 4(5): 338–341.
  • 25. Kusters DM, Homsma SJ , Hutten BA, et al. Dilemmas in treatment of women with familial hypercholesterolaemia during pregnancy.
  • Neth J Med 2010; 68(1): 299–303.
  • 26. Stein EA, Mellis S, Yancopoulos GD, et al. Effect of a monoclonal antibody to PCSK 9 on LDL cholesterol. N Engl J Med 2012;
  • 366: 1108–1118.
  • 27. Giugliano RP , Desai NR , Kohli P, et al. for the LAPL ACE -TI MI 57 Investigators. Efficacy, safety, and tolerability of a monoclonal
  • antibody to proprotein convertase subtilisin/kexin type 9 in combination with a statin in patients withhypercholesterolaemia
  • (LAPL ACE -TI MI 57): a randomised, placebo-controlled, dose-ranging, phase 2 study. Lancet 2012; doi: 10.1016/S0140-
  • 6736(12)61770-X.
  • 28. Raal F, Scott R, Somaratne R, et al. 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 PCSK 9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder (RUTHERFORD )
  • Randomized Trial. Circulation 2012; 126: 2408–2417.
  • 29. McKenney JM, Koren MJ, Kereiakes DJ , et al. Safety and efficacy of a monoclonal antibody to proprotein convertase subtilisin/
  • kexin type 9 serine protease, SAR236553/RE GN727, in patients with primary hypercholesterolemia receiving/ongoing stable
  • atorvastatin therapy. J Am Coll Cardiol 2012; 59: 2344–2353.
  • 30. Stein EA, Gipe D, Bergeron J, et al. Effect of a monoclonal antibody to PCSK 9, RE GN727/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 2012; 380: 29–36.
  • 31. Sullivan D, Olsson AG, Scott R, et al. Effect of a monoclonal antibody to PCSK 9 on low-density lipoprotein cholesterol levels
  • in statin-intolerant patients. The GAUSS Randomized Trial. JAMA 2012; doi:10.1001/jama.2012.25790.

Document Type

Publication order reference

Identifiers

YADDA identifier

bwmeta1.element.desklight-6d483948-e4f8-43b3-806b-2ff7b08be52b
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.