Advanced Method for the Identification of Patients with Inherited Hypercholesterolemia

Seminars in Vascular Medicine

Volumn 4, Issue 1, 2004, Pages 59-65

  Defesche, Joep C ^a   Lansberg, Peter J ^a,b   Umans Eckenhausen, Marina A W ^a,b   Kastelein, John J P ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b Found Identification Persons I H   (Netherlands)

Author keywords

Cardiovascular disease; Case finding; Familial hypercholesterolemia; Genetic testing; Prevention

Indexed keywords

ANTILIPEMIC AGENT; CHOLESTEROL;

ADULT; CARDIOVASCULAR DISEASE; DISEASE PREDISPOSITION; DNA DETERMINATION; FAMILIAL HYPERCHOLESTEROLEMIA; GENETIC SCREENING; HETEROZYGOTE; HUMAN; PILOT STUDY; PREVALENCE; REVIEW; RISK ASSESSMENT;

CARDIOVASCULAR DISEASES; ETHICS, MEDICAL; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MASS SCREENING; RISK FACTORS;

EID: 1642382482     PISSN: 15289648     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-822987     Document Type: Review

References (21)

1. Familial Hypercholesterolaemia: report of a WHO consultation. World Health Organization, Human Genetics Programme, Division of Noncommunicable Diseases. WHO/HGN/FH/CONS/98.7. Paris, October 1997
2. Scandinavian Simvastatin Survival Study Group. Randomised trial of cholesterol lowering in 4444 patients with coronary heart disease: the Scandinavian Simvastatin Survival Study (4S). Lancet 1994;344:1383-1389
3. Shepherd J, Cobbe S, Ford I, et al. Prevention of coronary heart disease with pravastatin in men with hypercholesterolemia (WOSCOPS). N Engl J Med 1995;333:1301-1307
4. Sacks FM, Pfeffer MA, Moye LA, et al. The effect of pravastatin on coronary events in patients with average cholesterol levels (CARE). N Engl J Med 1996;335:1001-1009
5. Downs JR, Clearfield M, Weis S, et al. Primary prevention of acute coronary events with lovastatin in men and women with average cholesterol levels (AFCAPS/TexCAPS). JAMA 1998;279:1615-1622
6. The Long-Term Intervention with Pravastatin in Ischemic Disease (LIPID) Study Group. Prevention of cardiovascular events and death with pravastatin in patients with coronary heart disease and a broad range of initial cholesterol levels. N Eng J Med 1998;339:1349-1357
7. Vogt TM. Risk assessment and health hazard appraisal. Annu Rev Public Health 1981;2:31-47
8. 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; 2001:2863-2913
9. Hill JS, Hayden MR, Frohlich J, et al. Genetic and environmental factors affecting the incidence of coronary artery disease in heterozygous familial hypercholesterolemia. Arteriosder Thromb 1991;11:290-297
10. Scientific Steering Committee on behalf of the Simon Broome Register Group. Mortality in treated heterozygous familial hypercholesterolemia: implications for clinical management. Atherosclerosis 1999;142:105-115
11. Defesche JC. Familial hypercholesterolaemia. In: Betteridge DJ, ed. Lipids and Vascular Disease. London: Martin Dunitz Ltd; 2000:65-76
12. Smilde TH, Van Wissen S, Wollersheim H, Trip MD, Kastelein JJP, Stalenhoef AFH. Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolemia (ASAP): a prospective, randomised, double-blind trial. Lancet 2001;357:577-581
13. Lansberg PJ, Tuzgöl S, Van de Ree MA, Defesche JC, Kastelein JJ. The prevalence of familial hypercholesterolemia among adults in general practice is higher than expected [in Dutch]. Ned Tijdschr Geneeskd 2000;144:1437-1440
14. Fouchier SW, Defesche JC, Umans-Eckenhausen MAW, Kastelein JJP. The molecular basis of familial hypercholesterolemia in the Netherlands. Hum Genet 2001;109:602-615
15. Umans-Eckenhausen MAW, Defesche JC, Sijbrands EJG, Scheerder RLJM, Kastelein JJP. Review of the first 5 years of screening for familial hypercholesteroleamia in the Netherlands. Lancet 2001;357:165-168
16. Nijbroek G, Sood S, McIntosh I, et al. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genome amplicons. Am J Hum Genet 1995;57:8-21
17. Bridges AB, Fead M, Boxer M, Gray JR, Bundy C, Murray A. Marfan syndrome in a large family: response of family members to a screening program. J Med Genet 1992;29:81-85
18. Wonderling D, Umans-Eckenhausen MAW, Marks D, Defesche JC, Kastelein JJP, Thorogood M. A cost-effectiveness analysis of the genetic screening programme for familial hypercholesterolemia in The Netherlands. Semin Vasc Med 2004;4:97-104
19. Tonstad S, Novik TC, Vandvik IH. Psychosocial function during treatment for familial hypercholesterolemia. Pediatrics 1996;98:249-255
20. Umans-Eckenhausen MA, Oort FJ, Ferenschild KC, Defesche JC, Kastelein JJ, de Haes JC. Parental attitude towards genetic testing for familial hypercholesterolemia in children. J Med Genet 2002;39:e49
21. De Jongh S, Kerckhoffs MC, Grootenhuis MA, et al. The influence of statin therapy on quality of life, anxiety and concerns in children with familial hypercholesterolemia and their parents. Acta Paediatr 2003;92:1096-1101