Diagnosing familial hypercholesterolaemia: The relevance of genetic testing

European Heart Journal

Volumn 27, Issue 18, 2006, Pages 2240-2246

  Van Aalst Cohen, Emily S ^a   Jansen, Angelique C M ^a   Tanck, Michael W T ^a   Defesche, Joep C ^a   Trip, Mieke D ^a   Lansberg, Peter J ^b   Stalenhoef, Anton F H ^c   Kastelein, John J P ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b SLOTERVAART HOSPITAL   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Diagnostic methods; Familial hypercholesterolaemia; Genetic testing

Indexed keywords

ADULT; ARTICLE; CLINICAL FEATURE; CLINICAL PRACTICE; COHORT ANALYSIS; DYSLIPIDEMIA; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LDLR GENE; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD; NETHERLANDS; PHENOTYPE; PRIORITY JOURNAL; RANDOMIZATION; TENDON XANTHOMA; XANTHOMA;

ADULT; COHORT STUDIES; FEMALE; GENETIC COUNSELING; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; RECEPTORS, LDL; RETROSPECTIVE STUDIES; RISK FACTORS;

EID: 33748787440     PISSN: 0195668X     EISSN: 15229645     Source Type: Journal    
DOI: 10.1093/eurheartj/ehl113     Document Type: Article

References (36)

1. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds), The Metabolic Basis of Inherited Disease. New York: McGraw-Hill; 2001. p2863-2913.
2. Brown MS, Goldstein JL. Receptor-mediated control of cholesterol metabolism. Science 1976;191:150-154.
3. Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Scientific Steering Committee on behalf of the Simon Broome Register Group. Atherosclerosis 1999;142:105-112.
4. Williams RR, Hunt SC, Schumacher MC, Hegele RA, Leppert MF, Ludwig EH, Hopkins PN. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993;72:171-176.
5. Defesche J. Familial Hypercholesterolemia. In: Betteridge DJ (ed.), Lipids and Vascular Disease. London, UK: Martin Dunitz Ltd; 2000. p65-76.
6. US MedPed program. www.medped.org.medped.org (28 March 2005).
7. Jansen AC, van Aalst-Cohen ES, Tanck MW, Trip MD, Lansberg PJ, Liem AH, Roeters van Lennep HWO, Sijbrands EJG, Kastelein JJP. The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolemia. J. Intern. Med. 2004;256:482-490.
8. Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet 2001;357:165-168.
9. Jansen AC, van Aalst-Cohen ES, Hutten BA, Büller HR, Prins MH, Kastelein JJP. Guidelines were developed for data collection from medical records for use in retrospective analyses. J Clin Epid 2005;58:269-274.
10. Scientific Steering Committee on behalf of the Simon Broome Register Group. Risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ 1991;303:893-896.
11. Fouchier SW, Defesche JC, Umans-Eckenhausen MW, Kastelein JP. The molecular basis of familial hypercholesterolemia in The Netherlands. Hum Genet 2001;109:602-615.
12. Van Gaal LF, Peeters AV, De Block CEM, De Leeuw IH, Thiart R, Kotze MJ. Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics. Mol Cell Probes 2001;15:329-336.
13. Williams RR, Hunt SC, Hopkins PN, Stults BM, Wu LL, Hasstedt SJ, Barlow GK, Stephenson SH, Lalouel JM, Kuida H. Familial dyslipidemic hypertension. Evidence from 58 Utah families for a syndrome present in approximately 12% of patients with essential hypertension. JAMA 1988;259:3579-3586.
14. Hunt SC, Wu LL, Hopkins PN, Stults BM, Kuida H, Ramirez ME, Lalouel JM, Williams RR. Apolipoprotein, low density lipoprotein subfraction, and insulin associations with familial combined hyperlipidemia. Study of Utah patients with familial dyslipidemic hypertension. Arteriosclerosis 1989;9:335-344.
15. Sniderman A, Shapiro S, Marpole D, Skinner B, Teng B, Kwiterovich PO Jr. Association of coronary atherosclerosis with hyperapobetalipoproteinemia [increased protein but normal cholesterol levels in human plasma low density (beta) lipoproteins]. Proc Natl Acad Sci 1980;77:604-608.
16. Veerkamp MJ, de Graaf J, Bredie SJ, Hendriks JC, Demacker PN, Stalenhoef AF. Diagnosis of familial combined hyperlipidemia based on lipid phenotype expression in 32 families: results of a 5-year follow-up study. Arterioscler Thromb Vasc Biol 2002;22:274-282.
17. Sniderman AD, Castro Cabezas M, Ribalta J, Carmena R, de Bruin TW, de Graaf J, Erkelens DW, Humphries SE, Masana L, Real JT, Talmud PJ, Taskinen MR. A proposal to redefine familial combined hyperlipidaemia-third workshop on FCHL held in Barcelona from 3 to 5 May 2001, during the scientific sessions of the European Society for Clinical Investigation. Eur J Clin Invest 2002;32:71-73.
18. Ayyobi AF, McGladdery SH, McNeely MJ, Austin MA, Motulsky AG, Brunzell JD. Small, dense LDL and elevated apolipoprotein B are the common characteristics for the three major lipid phenotypes of familial combined hyperlipidemia. Arterioscler Thromb Vasc Biol 2003;23:1289-1294.
19. Goldstein JL, Schrott HG, Hazzard WR, Bierman EL, Motulsky AG. Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest 1973;52:1544-1568.
20. Williams RR, Hopkins PN, Hunt SC, Wu LL, Hasstedt SJ, Lalouel JM, Ash KO, Stults BM, Kuida H. Population-based frequency of dyslipidemia syndromes in coronary-prone families in Utah. Arch Intern Med 1990;150:582-588.
21. Bredie SJ, Kiemeney LA, de Haan AF, Demakcer PN, Stalenhoef AF. Inherited susceptibility determines the distribution of dense low-density lipoprotein subfraction profiles in familial combined hyperlipidemia. Am J Hum Genet 1996;58:812-822.
22. Keulen ET, Voors-Pette C, de Bruin TW. Familial dyslipidemic hypertension syndrome: familial combined hyperlipidemia, and the role of abdominal fat mass. Am J Hypertens 2001;14:357-363.
23. Nora JJ, Lortscher RM, Spangler RD, Bilheimer DW. Familial hypercholesterolemia with 'normal' cholesterol in obligate heterozygotes. Am J Med Genet 1985;22:585-591.
24. Sauvage Nolting PR. Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolemia. J Intern Med 2003;253:161-168.
25. Heath KE, Gudnason V, Humphries SE, Seed M. The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia. Atherosclerosis 1999;143:41-54.
26. Marks D, Thorogood M, Neil HA, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003;168:1-14.
27. The recognition and management of hyperlipidaemia in adults: a policy statement of the European Atherosclerosis Society. Eur Heart J 1988;9:571-600.
28. Winder AF, Day LB. Premature corneal arcus in familial hypercholesterolemia is characteristic but not a marker of individual coronary risk. (Abstract). Atherosclerosis 1997;134:48.
29. Koivisto PV, Koivisto UM, Miettinen TA, Kontula K. Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels. Arterioscler Thromb 1992;12:584-592.
30. Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derre A, Villeger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 2003;34:154-156.
31. Celermajer DS, Sorensen KE, Gooch VM, Spiegelhalter DJ, Miller OI, Sullivan ID, Lloyd JK, Deanfield JE. Non-invasive detection of endothelial dysfunction in children and adults at risk of atherosclerosis. Lancet 1992;340:1111-1115.
32. Wiegman A, Hutten BA, de Groot E, Rodenburg J, Bakker HD, Buller HR, Sijbrands EJ, Kastelein JJ. Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized controlled trial. JAMA 2004;292:331-337.
33. Koeijvoets KC, Rodenburg J, Hutten BA, Wiegman A, Kastelein JJ, Sijbrands EJ. Low-density lipoprotein receptor genotype and response to pravastatin in children with familial hypercholesterolemia: substudy of an intima-media thickness trial. Circulation 2005;112:3168-3173.
34. Umans-Eckenhausen MAW, Sijbrands EJG, Kastelein JJP, Defesche JC. Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population. Circulation 2002;106:3031-3036.
35. Humphries SE, Galton D, Nicholls P. Genetic testing for familial hypercholesterolaemia: practical and ethical issues. QJM 1997;90:169-181.
36. Smilde TJ, van Wissen S, Wollersheim H, Trip MD, Kastelein JJ, Stalenhoef AF. Effect of aggressive vs conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): a prospective, randomised, double-blind trial. Lancet 2001;357:577-581.