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

Clinical Chemistry and Laboratory Medicine

Volumn 46, Issue 6, 2008, Pages 791-803

  Starr, Brian ^a   Hadfield, S Gaye ^a   Hutten, Barbara A ^c   Lansberg, Peter J ^d   Leren, Trond P ^e   Damgaard, Dorte ^f   Neil, H Andrew W ^g   Humphries, Steve E ^a,b  

^a London IDEAS Genetics Knowledge Park   (United Kingdom)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d Stichting Opsporing Erfelijke Hypercholesterolemie (StOEH)   (Netherlands)

^e OSLO UNIVERSITY HOSPITAL   (Norway)

^f AARHUS UNIVERSITY HOSPITAL   (Denmark)

^g UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Cascade testing; Cutoffs; Familial hypercholesterolaemia

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ADOLESCENT; ADULT; AGE; ARTICLE; CHILD; CHOLESTEROL BLOOD LEVEL; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENDER; HUMAN; INFANT; LIPOPROTEIN BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; NETHERLANDS; PRIORITY JOURNAL; REFERENCE VALUE; RELATIVE; SENSITIVITY AND SPECIFICITY;

ADOLESCENT; ADULT; AGE FACTORS; CHILD; CHOLESTEROL, LDL; DENMARK; FALSE NEGATIVE REACTIONS; FALSE POSITIVE REACTIONS; FAMILY; FEMALE; HUMANS; HYPERCHOLESTEROLEMIA; MALE; MIDDLE AGED; NETHERLANDS; NORWAY; SENSITIVITY AND SPECIFICITY; SEX FACTORS;

EID: 44949145140     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2008.135     Document Type: Article

References (37)

1. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolaemia. In: Scriver CR, Neaudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. New York: McGraw Hill, 1995:1981-2030.
2. Humphries SE, Whittall RA, Hubbart CS, Maplebeck S, Cooper JA, Soutar AK, et al. Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. J Med Genet 2006;43:943-9.
3. Stone NJ, Levy RI, Fredrickson DS, Verter J. Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia. Circulation 1974;49:476-88.
4. Slack J. Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. Lancet 1969;2:1380-2.
5. Betteridge DJ, Broome K, Durrington PN, Hawkins MM, Humphries SE, Mann JI, et al. Scientific Steering Committee on behalf of the Simon Broome Register Group. Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Atherosclerosis 1999;142:105-12.
6. Marks D, Wonderling D, Thorogood M, Lambert H, Humphries SE, Neil HA. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. Br Med J 2002;324:1303.
7. Wonderling D, Umans-Eckenhausen MA, Marks D, Defesche JC, Kastelein JJ, Thorogood M. Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands. Semin Vasc Med 2004;4:97-104.
8. Bhatnagar D, Morgan J, Siddiq S, Mackness MI, Miller JP, Durrington PN. Outcome of case finding among relatives of patients with known heterozygous familial hypercholesterolaemia. Br Med J 2000;321:1497-500.
9. Pocovi M, Civeira F, Alonso R, Mata P. Familial hypercholesterolemia in Spain: case-finding program, clinical and genetic aspects. Semin Vasc Med 2004;4:67-74.
10. Leren TP, Manshaus T, Skovholt U, Skodje T, Nossen IE, Teie C, et al. Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. Semin Vasc Med 2004;4:75-85.
11. 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;357:165-8.
12. Hadfield SG, Humphries SE. Implementation of cascade testing for the detection of familial hypercholesterolaemia. Curr Opin Lipidol 2005;16:428-33.
13. Leren TP. Cascade genetic screening for familial hypercholesterolemia. Clin Genet 2004;66:483-7.
14. The Simon Broome Register Group. Scientific Steering Committee on behalf of The Simon Broome Register Group. The risk of fatal coronary heart disease in familial hypercholesterolaemia. Br Med J 1991;303:893-6.
15. WHO. Familial hypercholesterolaemia - Report of a second WHO consultation. Geneva: WHO, 1999.
16. Williams RR, Hunt SC, Schumacher MC, Hegele RA, Leppert MF, Ludwig EH, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993;72:171-6.
17. Department of Health. Health Survey for England 2003. http: / /www.dh.gov.uk/en/Publicationsandstatistics/Publications/PublicationsStatistics/ DH_4098712. Accessed March 9, 2008.
18. Department of Health. Our inheritance, our future: realising the potential of genetics in the NHS. London: Stationery Office, 2003.
19. Damgaard D, Larsen ML, Nissen PH, Jensen JM, Jensen HK, Soerensen VR, et al. The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population. Atherosclerosis 2005;180:155-60.
20. Batki AD, Holder R, Thomason HL, Thorpe GH. Evaluation of the Cholestech LDX analyser. Medical Devices Agency evaluation report MDA/95/23. London: Stationery Office, 1995.
21. Rustad P, Felding P, Lahti A, Hyltoft PP. Descriptive analytical data and consequences for calculation of common reference intervals in the Nordic Reference Interval Project 2000. Scand J Clin Lab Invest 2004;64:343-70.
22. Friedewald WT, Levy RI, Fredrickson DS. Estimation of low density lipoprotein cholesterol without the use of the preparative ultracentrifuge. Clin Chem 1972;18:499-502.
23. Kwiterovich PO Jr, Fredrickson DS, Levy RI. Familial hypercholesterolemia (one form of familial type II hyperlipoproteinemia). A study of its biochemical, genetic and clinical presentation in childhood. J Clin Invest 1974;53:1237-49.
24. Leonard JV, Whitelaw AG, Wolff OH, Lloyd JK, Slack J. Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol. Br Med J 1977;1:1566-8.
25. Humphries SE, Cranston T, Allen M, Middleton-Price H, Fernandez MC, Senior V, et al. Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing. J Mol Med 2006;84:203-14.
26. Neil HA, Hammond T, Mant D, Humphries SE. Effect of statin treatment for familial hypercholesterolaemia on life assurance: results of consecutive surveys in 1990 and 2002. Br Med J 2004;328:500-1.
27. Marteau T, Senior V, Humphries SE, Bobrow M, Cranston T, Crook MA, et al. Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: a randomized controlled trial. Am J Med Genet A 2004;128:285-93.
28. Leren TP, Tonstad S, Gundersen KE, Bakken KS, Rodningen OK, Sundvold H, et al. Molecular genetics of familial hypercholesterolaemia in Norway. J Intern Med 1997;241:185-94.
29. Dallongeville J, Tiret L, Visvikis S, O'Reilly DS, Saava M, Tsitouris G, et al. Effect of apo E phenotype on plasma postprandial triglyceride levels in young male adults with and without a familial history of myocardial infarction: the EARS II study. European Atherosclerosis Research Study. Atherosclerosis 1999;145:381-8.
30. van Aalst-Cohen ES, Jansen AC, Tanck MW, Defesche JC, Trip MD, Lansberg PJ, et al. Diagnosing familial hypercholesterolaemia: the relevance of genetic testing. Eur Heart J 2006;27:2240-6.
31. Souverein OW, Defesche JC, Zwinderman AH, Kastelein JJ, Tanck MW. Influence of LDL-receptor mutation type on age at first cardiovascular event in patients with familial hypercholesterolaemia. Eur Heart J 2007;28:299-304.
32. Christensen B, Glueck C, Kwiterovich P, deGroot I, Chase G, Heiss G, et al. Plasma cholesterol and triglyceride distributions in 13,665 children and adolescents: the Prevalence Study of the Lipid Research Clinics Program. Pediatr Res 1980;14:194-202.
33. Hoeg JM, Feuerstein IM, Tucker EE. Detection and quantitation of calcific atherosclerosis by ultrafast computed tomography in children and young adults with homozygous familial hypercholesterolemia. Arterioscler Thromb 1994;14:1066-74.
34. Raal FJ, Pilcher GJ, Waisberg R, Buthelezi EP, Veller MG, Joffe BI. Low-density lipoprotein cholesterol bulk is the pivotal determinant of atherosclerosis in familial hypercholesterolemia. Am J Cardiol 1999;83:1330-3.
35. Tonstad S, Joakimsen O, Stensland-Bugge E, Ose L, Bonaa KH, Leren TP. Carotid intima-media thickness and plaque in patients with familial hypercholesterolaemia mutations and control subjects. Eur J Clin Invest 1998;28:971-9.
36. Nozue T, Kawashiri MA, Higashikata T, Nohara A, Inazu A, Kobayashi J, et al. Cholesterol-years score is associated with development of senile degenerative aortic stenosis in heterozygous familial hypercholesterolemia. J Atheroscler Thromb 2006;13:323-8.
37. Mabuchi H, Higashikata T, Nohara A, Lu H, Yu WX, Nozue T, et al. Cutoff point separating affected and unaffected familial hypercholesterolemic patients validated by LDL-receptor gene mutants. J Atheroscler Thromb 2005;12:35-40.