We describe cascade screening for familial hypercholesterolaemia (FH) and review the evidence for its effectiveness. We consider how it will be implemented into primary and secondary care, its potential advantages and disadvantages, and how it will help to prevent myocardial infarctions in patients with FH. Evidence from European countries and the recent pilot study in the UK show cascade screening for FH to be highly effective by facilitating early identification of many new patients. Treatment to lower cholesterol, if started early, is likely to lead to reductions in cardiovascular events. There are shortcomings in the current care of patients with FH and these should be addressed with the implementation of the new guidelines. To reduce the premature cardiovascular events seen in FH new healthcare infrastructures need to be in place and more education provided for both patients and professionals.
Marks D., Thorogood M., Farrer JM, Humphries SECensus of clinics providing specialist lipid services in the United Kingdom . J Public Health (Bangkok)2004 ;26:353-4.
2.
Newson AJ, Humphries SECascade testing in familial hypercholesterolaemia: how should family members be contacted?Eur J Hum Genet2005 ;13:401-08.
3.
Austin MA, Hutter CM, Zimmern RL, Humphries SEFamilial hypercholesterolaemia and coronary heart disease: a HuGE Association Review. Am J Epidemiol2004;160:421-9.
4.
Umans-Eckenhausen MAW , Defesche JC, Sijbrands EJ et al. Review of first 5 years of screening for familial hypercholesterolaemi in the Netherlands . Lancet2001;357:165-7.
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. BMJ2008;337:509-11.
7.
Morris JKIs cascade testing a sensible method of population screening?J Med Screen2004;11:57-9.
8.
Hadfield G. , Humphries SEFamilial hypercholesterolaemia: Cascade testing is tried and tested and cost effective. BMJ2007;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 Genet2008;11:26-35.
10.
Leren TPCascade genetic screening for familial hypercholesterolaemia. Clin Genet2004;66:483-7.
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. Heart2008;94:754-8.
12.
Yuan G., Wang J., Hegele RAHeterozygous familial hypercholesterolaemia: an unrecognized cause of early cardiovascular disease. CMAJ2006 ;174:1124-29.
13.
Marks D., Wonderling D., Thorogood M. et al. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. BMJ2002 ;324:1-6.
14.
Watts GF, Lewis B., Sullivan DRFamilial hypercholesterolaemia: a missed opportunity in preventative medicine . Nat Clin Pract Cardiovasc Med2007;4:404-05.
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 Med2003 ;163:65-8.
16.
Bhatnagar D. , Soran H., Durrington PNHypercholesterolaemia and its management. BMJ2008;337:503-08.
17.
Versmissen J., Oosterveer DM, Yazdanpanah M. et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ2009;338:223-6
18.
Kwiterovich POPrimary and secondary disorders of lipid metabolism in pediatrics. Pediatr Endocrinol Rev2008 ;5(Suppl 2):727-38. <AQ5>
19.
Arambepola C., Farmer AJ, Perera R., Neil HAStatin treatment for children and adolescents with heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis. Atherosclerosis2007;195:339-47.
20.
Wilson JM, Jungner YGPrinciples and practice of mass screening for disease. Bol Oficina Sanit Panam1968;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 Lond1996;30:115-8.
22.
Genetic Knowledge Improving Health ‘London Ideas’.FH Cascade Testing Audit Project. Meeting Report, 2004. www.fhcascade.org.uk/ (accessed 12 September 2008).
