Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia

Abstract Objectives: To assess the cost effectiveness of strategies to screen for and treat familial hypercholesterolaemia. Design: Cost effectiveness analysis. A care pathway for each patient was delineated and the associated probabilities, benefits, and costs were calculated. Participants: Simulated population aged 16-54 years in England and Wales. Interventions: Identification and treatment of patients with familial hypercholesterolaemia by universal screening, opportunistic screening in primary care, screening of people admitted to hospital with premature myocardial infarction, or tracing family members of affected patients. Main outcome measure: Cost effectiveness calculated as cost per life year gained (extension of life expectancy resulting from intervention) including estimated costs of screening and treatment. Results: Tracing of family members was the most cost effective strategy (£3097 (€5066, $4479) per life year gained) as 2.6 individuals need to be screened to identify one case at a cost of £133 per case detected. If the genetic mutation was known within the family then the cost per life year gained (£4914) was only slightly increased by genetic confirmation of the diagnosis. Universal population screening was least cost effective (£13 029 per life year gained) as 1365 individuals need to be screened at a cost of £9754 per case detected. For each strategy it was more cost effective to screen younger people and women. Targeted strategies were more expensive per person screened, but the cost per case detected was lower. Population screening of 16 year olds only was as cost effective as family tracing (£2777 with a clinical confirmation). Conclusions: Screening family members of people with familial hypercholesterolaemia is the most cost effective option for detecting cases across the whole population.

[1]  L. Iacoviello,et al.  Familial hypercholesterolaemia. , 2001, Lancet.

[2]  R. Collins,et al.  Prevention of cardiovascular events and death with pravastatin in patients with coronary heart disease and a broad range of initial cholesterol levels. , 1998, The New England journal of medicine.

[3]  M. Leppert,et al.  Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. , 1993, The American journal of cardiology.

[4]  H. Williams,et al.  Systematic review of treatments for atopic eczema. , 2000, Health technology assessment.

[5]  Tammy O. Tengs,et al.  Five-hundred life-saving interventions and their cost-effectiveness. , 1995, Risk analysis : an official publication of the Society for Risk Analysis.

[6]  S. Humphries,et al.  Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study , 2000, BMJ : British Medical Journal.

[7]  D. Bhatnagar,et al.  Outcome of case finding among relatives of patients with known heterozygous familial hypercholesterolaemia , 2000, BMJ : British Medical Journal.

[8]  R. Prescott,et al.  Familial Hypercholesterolaemia Regression Study: a randomised trial of low-density-lipoprotein apheresis , 1995, The Lancet.

[9]  J. Verter,et al.  Coronary Artery Disease in 116 Kindred with Familial Type II Hyperlipoproteinemia , 1974, Circulation.

[10]  A. Culyer,et al.  Screening for hypercholesterolaemia versus case finding for familial hypercholesterolaemia: a systematic review and cost-effectiveness analysis. , 2000, Health technology assessment.

[11]  Ames,et al.  PREVENTION OF CORONARY HEART DISEASE WITH PRAVASTATIN IN MEN WITH HYPERCHOLESTEROLEMIA , 2000 .

[12]  Scandinavian Simvastatin Survival Study Group Randomised trial of cholesterol lowering in 4444 patients with coronary heart disease: the Scandinavian Simvastatin Survival Study (4S) , 1994, The Lancet.

[13]  V. Gudnason,et al.  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. , 1999, Atherosclerosis.

[14]  J. Slack Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. , 1969, Lancet.

[15]  B. Davis,et al.  The effect of pravastatin on coronary events after myocardial infarction in patients with average cholesterol levels. Cholesterol and Recurrent Events Trial investigators. , 1996, The New England journal of medicine.

[16]  L. Goldman,et al.  Cost-effectiveness considerations in the treatment of heterozygous familial hypercholesterolemia with medications. , 1993, The American journal of cardiology.

[17]  D. Patterson,et al.  Lipid abnormalities in male and female survivors of myocardial infarction and their first-degree relatives. , 1972, Lancet.

[18]  Wilson Jm,et al.  Principles and practice of mass screening for disease , 1968 .

[19]  L. Becker,et al.  Nurse-mediated cholesterol management compared with enhanced primary care in siblings of individuals with premature coronary disease. , 1998, Archives of internal medicine.

[20]  J. Slack RISKS OF ISCHÆMIC HEART-DISEASE IN FAMILIAL HYPERLIPOPROTEINÆMIC STATES , 1969 .

[21]  J. Stengård,et al.  Antibodies to glutamic acid decarboxylase as predictors of insulin-dependent diabetes mellitus before clinical onset of disease , 1994, The Lancet.

[22]  Charles R.scriver,et al.  The Metabolic basis of inherited disease , 1989 .

[23]  HOMAS,et al.  The Effect of Pravastatin on Coronary Events after Myocardial Infarction in Patients with Average Cholesterol Levels , 2000 .

[24]  Muammar Qaddafi,et al.  The Green Book , 1975 .

[25]  J. Slattery,et al.  Randomised trial of cholesterol lowering in 4444 patients with coronary heart disease: the Scandinavian Simvastatin Survival Study (4S). 1994. , 1994, Atherosclerosis. Supplements.

[26]  D. Mant,et al.  Randomised trial of lipid lowering dietary advice in general practice: the effects on serum lipids, lipoproteins, and antioxidants , 1995, BMJ.

[27]  C. Normand,et al.  Costs and cost effectiveness of health checks conducted by nurses in primary care: the Oxcheck study , 1996, BMJ.

[28]  Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Scientific Steering Committee on behalf of the Simon Broome Register Group. , 1999, Atherosclerosis.

[29]  S. Humphries,et al.  Genetic testing for familial hypercholesterolaemia: practical and ethical issues. , 1997, QJM : monthly journal of the Association of Physicians.

[30]  G. Ehrlich,et al.  The Metabolic Basis Of Inherited Disease. , 1973 .

[31]  E. Sijbrands,et al.  Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands , 2001, The Lancet.