Opportunistic screening for familial hypercholesterolaemia via a community laboratory

Annals of Clinical Biochemistry

Volumn 49, Issue 6, 2012, Pages 534-537

  Bell, Damon A ^a,b,c   Hooper, Amanda J ^a,b,d   Bender, Robert ^a,b   McMahon, Jenny ^c   Edwards, Glenn ^c   van Bockxmeer, Frank M ^a,d   Watts, Gerald F ^a,b   Burnett, John R ^a,b,d  

^a ROYAL PERTH HOSPITAL   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c St John of God Pathology ^*  (Australia)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ADULT; AGED; ARTICLE; AUSTRALIA; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; DISEASE REGISTRY; EARLY DIAGNOSIS; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENERAL PRACTITIONER; HUMAN; LABORATORY DIAGNOSIS; MAJOR CLINICAL STUDY; MALE; OPPORTUNISTIC SCREENING; PREVALENCE; PRIORITY JOURNAL; RISK FACTOR; SCREENING;

ADULT; CHOLESTEROL, LDL; COMMUNITY NETWORKS; EARLY DIAGNOSIS; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LABORATORIES; MASS SCREENING;

EID: 84872443309     PISSN: 00045632     EISSN: 17581001     Source Type: Journal    
DOI: 10.1258/acb.2012.012002     Document Type: Article

References (20)

1. Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol 2004;160:407-20
2. Marks D, Thorogood M, Neil HA, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003;168:1-14
3. Rader DJ, Cohen J, Hobbs HH. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest 2003;111:1795-803
4. Soutar AK, Naoumova RP. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med 2007;4:214-25
5. Wilson JM, Jungner YG. Principles and Practice of Mass Screening for Disease. Public Health Paper 34:1-163. Geneva: World Health Organization, 1968
6. Bender R, Bell DA, Hooper AJ, et al. Screening for familial hypercholesterolaemia. Pathology 2012;44:122-8
7. Bates T, Burnett JR, van Bockxmeer FM, Hamilton S, Arnolda L, Watts GF. Detection of familial hypercholesterolaemia: a major treatment gap in preventative cardiology. Heart Lung Circ 2008;17:411-3
8. Hamilton-Craig I. Case-finding for familial hypercholesterolemia in the Asia-Pacific region. Semin Vasc Med 2004;4:87-92
9. Marks D, Wonderling D, Thorogood M, Lambert H, Humphries SE, Neil HA. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. BMJ 2002;324:1303
10. Watts GF, Sullivan DR, Poplawski N, et al. Familial hypercholesterolaemia: a model of care for Australasia. Atheroscler Suppl 2011;12:221-31
11. Scientific Steering Committee of behalf of Simon Broome Register Group. Risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ 1991;303:893-6
12. World Health Organisation. Familial hypercholesterolaemia (FH): report of a second WHO consultation. Geneva: World Health Organization, 1999
13. Williams R, Hunt S, Schumacher M. Diagnosing heterozygous familial hypercholesterolaemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993;72:171-6
14. Starr B, Hadfield SG, Hutten BA, et al. Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing. Clin Chem Lab Med 2008;46:791-803
15. Friedewald WT, Levy RI, Fredrickson DS. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem 1972;18:499-502
16. Uitenbroek DG, Binomial. SISA. 1997. See http://www. quantitativeskills.com/sisa/distributions/binomial.htm. (last checked 1 December 2011)
17. Civeira F, Ros E, Jarauta E, et al. Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia. Am J Cardiol 2008;102:1187-93
18. Damgaard D, Larsen ML, Nissen PH, et al. The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population. Atherosclerosis 2005;180:155-60
19. Civeira F. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis 2004;173:55-68
20. Watts GF, Sullivan DR, Poplawski N, et al. A model of care for familial hypercholesterolaemia: key role for clinical biochemistry. Clin Biochem Rev 2012;33:25-31