Identifying patients with familial hypercholesterolemia in primary care

Heart

Volumn 94, Issue 6, 2008, Pages 695-696

  Humphries, Steve E ^a,b   Hadfield, Gave ^a,b  

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

^b London IDEAS Genetics Knowledge Park   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

CHOLESTEROL BLOOD LEVEL; COST EFFECTIVENESS ANALYSIS; DNA DETERMINATION; EDITORIAL; FAMILIAL HYPERCHOLESTEROLEMIA; HEART INFARCTION; HEART PROTECTION; HUMAN; ISCHEMIC HEART DISEASE; LIFE EXPECTANCY; MENOPAUSE; MORTALITY; PATIENT IDENTIFICATION; PRACTICE GUIDELINE; PREVALENCE; PRIMARY MEDICAL CARE; PRIORITY JOURNAL;

FEMALE; GREAT BRITAIN; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; PRIMARY HEALTH CARE; RECEPTORS, LDL; RISK REDUCTION BEHAVIOR;

EID: 44349139506     PISSN: 13556037     EISSN: None     Source Type: Journal    
DOI: 10.1136/hrt.2007.126292     Document Type: Editorial

References (16)

1. Gray J, Jaiyeola A, Whiting M, et al. Identifying patients with familial hypercholesterolemia in primary care: an informatics-based approach in one primary care centre. Heart 2008;94:754-8.
2. Stone NJ, Levy Rl, Fredrickson DS, et al. Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia. Circulation 1974;49:476-88.
3. Slack J. Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. Lancet 1969;2:1380-2.
4. Betteridge DJ, Broome K, Durrington PN, et al. Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Atherosclerosis 1999;142:105-12.
5. Marks D, Wonderling D, Thorogood M, et al. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. BMJ 2002;324:1303.
6. Marks D, Thorogood M, Farrer M, et al. Census of clinics providing specialist lipid services in the United Kingdom. J Public Health Med 2004;26:353-4.
7. Neil HA, Hammond T, Huxley R, et al. Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study. BMJ 2000;321:148.
8. Raal FJ, Pilcher GJ, Waisberg R, et al. Low-density lipoprotein cholesterol bulk is the pivotal determinant of atherosclerosis in familial hypercholesterolemia. Am J Cardiol 1999;83:1330-3.
9. Hoeg JM, Feuerstein IM, Tucker EE. Detection and quantitation of calcific atherosclerosis by ultrafast computed tomography in children and young adults with homozygous familial hypercholesterolemia. Arterioscler Thromb 1994;14:1066-74.
10. Tonstad S, Joakimsen O, Stensland-Bugge E, et al. Carotid intima-media thickness and plaque in patients with familial hypercholesterolaemia mutations and control subjects. Eur J Clin Invest 1998;28:971-9.
11. 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.
12. 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.
13. Marks D, Thorogood M, Neil SM, et al. Cascade screeing for familial hypercholesterolaemia: implications of a pilot study for national screening programmes. J Med Screening 2006;13:156-9.
14. 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.
15. Department of Health. Recommendations to the Department of Health from the Steering Group of the DH FH Cascade Testing Audit Project. Available from http://www.fhcascade.org.uk (accessed 14 January 2008).
16. Taylor A, Tabrah S, Wang D, et al. Multiplex ARMs analysis to detect 13 common mutations in familial hypercholesterolemia. Clin Genet 2007;71:561-8.