Clinical phenotype in relation to the distance-to-index-patient in familial hypercholesterolemia

Atherosclerosis

Volumn 246, Issue , 2016, Pages 1-6

  Besseling, Joost ^a   Huijgen, Roeland ^a   Martin, Seth S ^b   Hutten, Barbara A ^a   Kastelein, John J P ^a   Hovingh, G Kees ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Distance to index; Familial hypercholesterolemia; Genotype phenotype relation; Low density lipoprotein cholesterol

Indexed keywords

DNA; LOW DENSITY LIPOPROTEIN CHOLESTEROL; BIOLOGICAL MARKER; LDLR PROTEIN, HUMAN; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; ARTICLE; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; DISEASE SEVERITY; DISTANCE TO INDEX; DNA DETERMINATION; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISTANCE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; SECOND DEGREE RELATIVE; ADOLESCENT; BLOOD; CARDIOVASCULAR DISEASES; CHILD; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION; GENETICS; HEREDITY; HYPERLIPOPROTEINEMIA TYPE II; KAPLAN MEIER METHOD; MORTALITY; MULTIVARIATE ANALYSIS; MUTATION; PEDIGREE; PROPORTIONAL HAZARDS MODEL; RISK ASSESSMENT; RISK FACTOR; SEVERITY OF ILLNESS INDEX; STATISTICAL MODEL; TIME FACTOR; YOUNG ADULT;

ADOLESCENT; ADULT; BIOMARKERS; CARDIOVASCULAR DISEASES; CHILD; CHOLESTEROL, LDL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEREDITY; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; KAPLAN-MEIER ESTIMATE; LINEAR MODELS; MALE; MULTIVARIATE ANALYSIS; MUTATION; PEDIGREE; PHENOTYPE; PROPORTIONAL HAZARDS MODELS; RECEPTORS, LDL; RISK ASSESSMENT; RISK FACTORS; SEVERITY OF ILLNESS INDEX; TIME FACTORS; YOUNG ADULT;

EID: 84952322507     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2015.12.033     Document Type: Article

References (26)

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. Huijgen R., Hutten B.A., Kindt I., Vissers M.N., Kastelein J.J.P. Discriminative ability of LDL-cholesterol to identify patients with familial hypercholesterolemia: a cross-sectional study in 26 406 individuals tested for genetic FH. Circ. Cardiovasc. Genet. 2012, 5:354-359.
3. Starr B., Hadfield S.G., Hutten B.A., Lansberg P.J., Leren T.P., Damgaard D., et al. Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing. Clin. Chem. Lab. Med. 2008, 46:791-803.
4. Huijgen R., Kindt I., Verhoeven S.B.J., Sijbrands E.J.G., Vissers M.N., Kastelein J.J.P., et al. Two years after molecular diagnosis of familial hypercholesterolemia: majority on cholesterol-lowering treatment but a minority reaches treatment goal. PLoS One 2010, 5:e9220.
5. Garcia-Garcia A.-B., Ivorra C., Martinez-Hervas S., Blesa S., Fuentes M.J., Puig O., et al. Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family. Atherosclerosis 2011, 218:423-430.
6. Huijgen R., Vissers M.N., Kindt I., Trip M.D., de Groot E., Kastelein J.J.P., et al. Assessment of carotid atherosclerosis in normocholesterolemic individuals with proven mutations in the low-density lipoprotein receptor or apolipoprotein B genes. Circ. Cardiovasc. Genet. 2011, 4:413-417.
7. Leigh S. LDLR Database 2007, (accessed August 21, 2015). http://www.ucl.ac.uk/ldlr/Current/index.php?select_db=LDLR.
8. Alonso R., Mata N., Castillo S., Fuentes F., Saenz P., Muñiz O., et al. Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors. Atherosclerosis 2008, 200:315-321.
9. Bertolini S., Cantafora A., Averna M., Cortese C., Motti C., Martini S., et al. 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. 2000, 20:e41-e52.
10. Bertolini S., Pisciotta L., Rabacchi C., Cefalù A.B., Noto D., Fasano T., et al. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. Atherosclerosis 2013, 227:342-348.
11. McPherson R., Frohlich J., Fodor G., Genest J. Canadian cardiovascular society position statement - recommendations for the diagnosis and treatment of dyslipidemia and prevention of cardiovascular disease. Can. J. Cardiol. 2006, 22:913-927.
12. Nordestgaard B.G., Chapman M.J., Humphries S.E., Ginsberg H.N., Masana L., Descamps O.S., et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Eur. Heart J. 2013, 34:3478a-3490a.
13. Marks D., Wonderling D., Thorogood M., Lambert H., Humphries S.E., Neil H.A.W. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. BMJ 2002, 324:1303.
14. Nherera L., Marks D., Minhas R., Thorogood M., Humphries S.E. Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies. Heart 2011, 97:1175-1181.
15. Talmud P.J., Shah S., Whittall R., Futema M., Howard P., Cooper J.A., et al. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet 2013, 381:1293-1301.
16. Huijgen R., Kindt I., Fouchier S.W., Defesche J.C., Hutten B.a, Kastelein J.J.P., et al. Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia. Hum. Mutat. 2010, 31:752-760.
17. Huijgen R., Kindt I., Defesche J.C., Kastelein J.J.P. Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants. Eur. Heart J. 2012, 33:2325-2330.
18. 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.
19. 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.
20. Besseling J., Kindt I., Hof M., Kastelein J.J.P., Hutten B.A., Hovingh G.K. Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: a study of a cohort of 14, 000 mutation carriers. Atherosclerosis 2014, 233:219-223.
21. 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.
22. Lombardi M.P., Redeker E.J., Defesche J.C., Kamerling S.W., Trip M.D., Mannens M.M., et al. Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands. Clin. Genet. 2000, 57:116-124.
23. Harrel F.E. The "Hmisc" Package, Version 3.14-4 2014, (accessed July 23, 2014). http://cran.r-project.org/web/packages/Hmisc/Hmisc.pdf.
24. Huijgen R., Sjouke B., Vis K., de Randamie J.S.E., Defesche J.C., Kastelein J.J.P., et al. Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels. Hum. Mutat. 2012, 33:448-455.
25. Luna Saavedra Y.G., Dufour R., Davignon J., Baass A. PCSK9 R46L, lower LDL, and cardiovascular disease risk in familial hypercholesterolemia: a cross-sectional cohort study. Arterioscler. Thromb. Vasc. Biol. 2014, 34:2700-2705.
26. Napolitano C., Novelli V., Francis M.D., Priori S.G. Genetic modulators of the phenotype in the long QT syndrome: state of the art and clinical impact. Curr. Opin. Genet. Dev. 2015, 33:17-24.