Cascade screening for familial hypercholesterolaemia and its effectiveness in the prevention of vascular disease

British Journal of Diabetes and Vascular Disease

Volumn 9, Issue 4, 2009, Pages 171-174

  Herman, Katherine ^a   Van Heyningen, Charles ^a   Wile, David ^a  

^a UNIVERSITY HOSPITAL AINTREE   (United Kingdom)

Author keywords

Cascade screening; Familial hypercholesterolaemia; Genetic lipid disorders; Screening

Indexed keywords

ATORVASTATIN; CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR;

CARDIOVASCULAR DISEASE; CASCADE SCREENING; COST; EUROPE; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; HEALTH EDUCATION; HEART INFARCTION; HUMAN; PATIENT EDUCATION; PATIENT IDENTIFICATION; QUALITY OF LIFE; REVIEW; SCREENING; UNITED KINGDOM; VASCULAR DISEASE; VOCATIONAL EDUCATION; WORLD HEALTH ORGANIZATION;

EID: 73449138232     PISSN: 14746514     EISSN: None     Source Type: Journal    
DOI: 10.1177/1474651409339989     Document Type: Review

References (22)

1. Marks D, Thorogood M, Farrer JM, Humphries SE. Census of clinics providing specialist lipid services in the United Kingdom. J Public Health (Bangkok) 2004;26:353-354
2. Newson AJ, Humphries SE. Cascade testing in familial hypercholesterolaemia: how should family members be contacted? Eur J Hum Genet 2005;13:401-408
3. Austin MA, Hutter CM, Zimmern RL, Humphries SE. Familial hypercholesterolaemia and coronary heart disease: a HuGE Association Review. Am J Epidemiol 2004;160:421-429
4. Umans-Eckenhausen MAW, Defesche JC, Sijbrands EJ et al. Review of first 5 years of screening for familial hypercholesterolaemi in the Netherlands. Lancet 2001;357:165-167
5. National Institute for Health and Clinical Excellence. Familial hypercholesterolaemia: Identification and management of familial hypercholesterolaemia. London: National Collaborating Centre for Primary Care, 2008.
6. Wierzbicki AS, Humphries SE, Minhas R. Familial hypercholesterolaemia: summary of NICE guidance. BMJ 2008;337:509-511
7. Morris JK. Is cascade testing a sensible method of population screening? J Med Screen 2004;11:57-59
8. Hadfield G, Humphries SE. Familial hypercholesterolaemia: Cascade testing is tried and tested and cost effective. BMJ 2007;335:683.
9. Leren TP, Finborud TH, Manshaus TE, et al. Diagnosis of familial hypercholesterolaemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening. Community Genet 2008;11:26-35.
10. Leren TP. Cascade genetic screening for familial hypercholesterolaemia. Clin Genet 2004;66:483-487
11. Gray J, Jaiyeola A, Whiting M et al. Identifying patients with familial hypercholesterolaemia in primary care: an informatics-based approach in one primary care centre. Heart 2008;94:754-758
12. Yuan G, Wang J, Hegele RA. Heterozygous familial hypercholesterolaemia: an unrecognized cause of early cardiovascular disease. CMAJ 2006;174:1124-1129
13. Marks D, Wonderling D, Thorogood M et al. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. BMJ 2002;324:1-6.
14. Watts GF, Lewis B, Sullivan DR. Familial hypercholesterolaemia: a missed opportunity in preventative medicine. Nat Clin Pract Cardiovasc Med 2007;4:404-405
15. Umans-Eckenhausen AWM, Defesche JC, Van Dam MJ, Kastelein JJP. Long-term compliance with lipid-lowering medication after genetic screening for familial hypercholesterolaemia. Arch Intern Med 2003;163:65-68
16. Bhatnagar D, Soran H, Durrington PN. Hypercholesterolaemia and its management. BMJ 2008;337:503-508
17. Versmissen J, Oosterveer DM, Yazdanpanah M et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ 2009;338:223-226
18. Kwiterovich PO. Primary and secondary disorders of lipid metabolism in pediatrics. Pediatr Endocrinol Rev 2008;5(Suppl 2):727-738
19. Arambepola C, Farmer AJ, Perera R, Neil HA. Statin treatment for children and adolescents with heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis. Atherosclerosis 2007;195:339-347
20. Wilson JM, Jungner YG. Principles and practice of mass screening for disease. Bol Oficina Sanit Panam 1968;65:281-393.
21. Wray R, Neil H, Rees J. Screening for hyperlipidaemia in childhood. Recommendations of the British Hyperlipidaemia Association. J R Coll Physicians Lond 1996;30:115-118
22. Genetic Knowledge Improving Health 'London Ideas'. FH Cascade Testing Audit Project. Meeting Report, 2004. www.fhcascade.org.uk/ (accessed 12 September 2008).