Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: A study of a cohort of 14,000 mutation carriers

Atherosclerosis

Volumn 233, Issue 1, 2014, Pages 219-223

  Besseling, Joost ^a   Kindt, Iris ^b   Hof, Michel ^a   Kastelein, John J P ^a   Hutten, Barbara A ^a   Hovingh, G Kees ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b Foundation for the Identification of Persons with Inherited Hypercholesterolemia   (Netherlands)

Author keywords

Cardiovascular disease; Familial hypercholesterolemia; Prevalence; Severe familial hypercholesterolemia

Indexed keywords

CARDIOVASCULAR DISEASE; FAMILIAL HYPERCHOLESTEROLEMIA; PREVALENCE; SEVERE FAMILIAL HYPERCHOLESTEROLEMIA;

ADULT; AGED; CARDIOVASCULAR DISEASES; CHOLESTEROL, LDL; COHORT STUDIES; FEMALE; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION; NETHERLANDS; PREVALENCE; RISK FACTORS;

EID: 84893873856     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2013.12.020     Document Type: Article

References (24)

1. Hovingh G.K., Davidson M.H., Kastelein J.J.P., O'Connor A.M. Diagnosis and treatment of familial hypercholesterolaemia. Eur Heart J 2013, 34:962-971.
2. Hill J.S., Hayden M.R., Frohlich J., Pritchard P.H. Genetic and environmental factors affecting the incidence of coronary artery disease in heterozygous familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 1991, 11:290-297.
3. Ferrières J., Lambert J., Lussier-Cacan S., Davignon J. Coronary artery disease in heterozygous familial hypercholesterolemia patients with the same LDL receptor gene mutation. Circulation 1995, 92:290-295.
4. Cobbaert C., Boerma G.J., Lindemans J. Evaluation of the cholestech L.D.X. desktop analyser for cholesterol, HDL-cholesterol, and triacylglycerols in heparinized venous blood. Eur J Clin Chem Clin Biochem 1994, 32:391-394.
5. Friedewald W.T., Levy R.I., Fredrickson D.S. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem 1972, 18:499-502.
6. Fouchier S.W., Defesche J.C., Umans-Eckenhausen M.W., Kastelein J.P. The molecular basis of familial hypercholesterolemia in The Netherlands. Hum Genet 2001, 109:602-615.
7. Lombardi M.P., Redeker E.J., Defesche J.C., et al. Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands. Clin Genet 2000, 57:116-124.
8. Goldstein J.L., Hobbs H.H., Brown M.S. Familial hypercholesterolaemia. The metabolic and molecular bases of inherited disease 2001, 2863-2913. C. Scriber, A. Beaudet (Eds.).
9. Lansberg P.J., Tuzgöl S., van de Ree M.A., Defesche J.C., Kastelein J.J. Higher prevalence of familial hypercholesterolemia than expected in adult patients of four family practices in Netherlands. Ned Tijdschr Geneeskd 2000, 144:1437-1440.
10. Civeira F. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis 2004, 173:55-68.
11. Evaluation, and treatment of high blood cholesterol in adults (Adult treatment panel III): final report. Circulation 2002, 106:3143-3421. Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection.
12. McGowan M.P. Pathophysiology of severe familial hypercholesterolemia. JClin Lipidol 2012, 6:S4.
13. Rodenburg J., Vissers M.N., Wiegman A., et al. Statin treatment in children with familial hypercholesterolemia: the younger, the better. Circulation 2007, 116:664-668.
14. Klag M.J., Ford D.E., Mead L.A., et al. Serum cholesterol in young men and subsequent cardiovascular disease. NEJM 1993, 328:313-318.
15. Stamler J., Daviglus M.L., Garside D.B., Dyer A.R., Greenland P., Neaton J.D. Relationship of baseline serum cholesterol levels in 3 large cohorts of younger men to long-term coronary, cardiovascular, and all-cause mortality and to longevity. JAMA 2000, 284:311-318.
16. De Jongh S., Lilien M.R., Op't Roodt J., Stroes E.S.G., Bakker H.D., Kastelein J.J.P. Early statin therapy restores endothelial function in children with familial hypercholesterolemia. JAm Coll Cardiol 2002, 40:2117-2121.
17. Wiegman A., Hutten B.A., de Groot E., et al. Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized controlled trial. JAMA 2004, 292:331-337.
18. McCrindle B.W., Urbina E.M., Dennison B a, et al. Drug therapy of high-risk lipid abnormalities in children and adolescents: a scientific statement from the American Heart Association Atherosclerosis, Hypertension, and Obesity in Youth Committee, Council of Cardiovascular Disease in the Young. Circulation 2007, 115:1948-1967.
19. Village E.G. Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: summary report. Pediatrics 2011, 128:S213-S256.
20. Yusuf S., Reddy S., Ounpuu S., Anand S. Global burden of cardiovascular diseases: part I: general considerations, the epidemiologic transition, risk factors, and impact of urbanization. Circulation 2001, 104:2746-2753.
21. Yusuf S., Hawken S., Ounpuu S., et al. Effect of potentially modifiable risk factors associated with myocardial infarction in 52 countries (the INTERHEART study): case-control study. Lancet 2004, 364:937-952.
22. Hovingh K., Besseling J., Kastelein J. Efficacy and safety of mipomersen sodium (Kynamro). Expert Opin Drug Saf 2013, 1-11.
23. Lambert G., Sjouke B., Choque B., Kastelein J.J.P., Hovingh G.K. The PCSK9 decade. JLipid Res 2012, 53:2515-2524.
24. Goldberg A.C. Emerging low-density lipoprotein therapies: microsomal triglyceride transfer protein inhibitors. JClin Lipidol 2013, 7:S16-S20.