Identifying patients with familial hypercholesterolaemia in primary care: An informatics-based approach in one primary care centre

Heart

Volumn 94, Issue 6, 2008, Pages 754-758

  Gray, J ^a,d   Jaiyeola, A ^a   Whiting, M ^a   Modell, M ^b   Wierzbicki, A S ^c  

^a Bolingbroke Hospital London   (United Kingdom)

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

^c ST THOMAS HOSPITAL   (United Kingdom)

^d Lavender Hill Group Practice   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY HISTORY; HUMAN; MAJOR CLINICAL STUDY; MEDICAL INFORMATICS; PATIENT IDENTIFICATION; PRIMARY MEDICAL CARE; PRIORITY JOURNAL; PROBABILITY; XANTHOMA;

CHOLESTEROL, LDL; DATABASES, FACTUAL; FEASIBILITY STUDIES; FEMALE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; INFORMATION STORAGE AND RETRIEVAL; MALE; MYOCARDIAL ISCHEMIA; PRIMARY HEALTH CARE; RISK REDUCTION BEHAVIOR;

EID: 44349135687     PISSN: 13556037     EISSN: None     Source Type: Journal    
DOI: 10.1136/hrt.2006.107391     Document Type: Article

References (18)

1. Goldstein JL, Brown MS. Familial hypercholesterolaemia. In: Scriver CR, Beuder AL, Sly WS, et al, eds. The metabolic basis of inherited disease. New York: McGraw Hill, 1995:1215-45.
2. Slack J. Risks of ischaemic heart disease in familial hyperlipproteinaemic states, iancef 1969;2:1380-2.
3. Stone NJ, Levy, RI, Fredrickson DS, et al. Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia. Circulation 1974;49:476-88.
4. Neil HAW, Hawkins MH, Potok M, et al. Mortality in treated heterozygous familial hypercholesterolaemia: implications for patient management. Atherosclerosis 1999;142:105-12.
5. Neil HA, Hammond T, Huxley R, et al. Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study. BMJ 2000;321:148.
6. Marks D, Thorogood M, Farrer JM, et al. Census of clinics providing specialist lipid services in the United Kingdom. J Public Health 2004;26:353-4.
7. Scientific Steering Committee, on behalf of the Simon Broome Register Group. Risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ 1991;303:893-6.
8. Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, et al. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet 2001;357:165-8.
9. de Sauvage Nolting PR, Defesche JC, FJuirma RJ, et al. Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia. J Intern Med 2003;253:161-8.
10. Anonymous. JBS 2: Joint British Societies' guidelines on prevention of cardiovascular disease in clinical practice Heart 2005;91(suppl 5):v1-52.
11. London IDEAS. Department of Health FH Cascade Testing Audit Project. Available at http://www.fhcascade.org.uk (accessed 18 December 2007).
12. Hadfield SG, Humphries SE. Implementation of cascade testing for the detection of familial hypercholesterolaemia. Curr Opin Lipidol 2005;16:428-33.
13. Bhatnagar D, Morgan J, Siddiq S, et al. Outcome of case finding among relatives of patients with known heterozygous familial hypercholesterolaemia. BMJ 2000;321:1497-500.
14. Leren TP, Manshaus T, Skovholt U, 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.
15. Tyerman PF, Tyerman GV. Another way of screening for familial hypercholesterolaemia. BMJ 2002;325:340.
16. Marks D, Wonderling D, Thorogood M, et al. Screening for hypercholesterolaemia versus case finding for familial hypercholesterolaemia: a systematic review and cost-effectiveness analysis. Health Technol Assess 2000;4:1-123.
17. Department of Health. National Service Framework for Coronary Heart Disease. London: Department of Health, 2000.
18. Humphries SE, Whittall RA, Hubbart CS, 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.