Family tracing to identify patients with familial hypercholesterolaemia: The second audit of the department of Health familial hypercholesterolaemia Cascade testing project

Annals of Clinical Biochemistry

Volumn 46, Issue 1, 2009, Pages 24-32

  Hadfield, S G ^a   Horara, S ^a   Starr, B J ^a   Yazdgerdi, S ^a   Marks, D ^b   Bhatnagar, D ^c   Cramb, R ^d   Egan, S ^e   Everdell, R ^e   Ferns, G ^f   Jones, A ^g   Marenah, C B ^h   Marples, J ⁱ   Prinsloo, P ^h   Sneyd, A ^h   Stewart, M F ^j   Sandle, L ^k   Wang, T ^f,l   Watson, M S ^f   Humphries, S E ^m  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

^c ROYAL OLDHAM HOSPITAL   (United Kingdom)

^d QUEEN ELIZABETH HOSPITAL   (United Kingdom)

^e ROYAL BOURNEMOUTH HOSPITAL   (United Kingdom)

^f ROYAL SURREY COUNTY HOSPITAL   (United Kingdom)

^g UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

^h NOTTINGHAM UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

ⁱ ROYAL ALBERT EDWARD INFIRMARY   (United Kingdom)

^j HOPE HOSPITAL   (United Kingdom)

^k TRAFFORD GENERAL HOSPITAL   (United Kingdom)

^l FRIMLEY PARK HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

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

more..

Author keywords

[No Author keywords available]

Indexed keywords

LIPID;

ADOLESCENT; ADULT; ARTICLE; CHILD; DATA BASE; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY ASSESSMENT; FAMILY TRACING; FEMALE; HEALTH CARE COST; HOSPITAL DISCHARGE; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL AUDIT; NATIONAL HEALTH SERVICE; NEWBORN; NURSE; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL; RELATIVE; SCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COST-BENEFIT ANALYSIS; FEMALE; GREAT BRITAIN; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MASS SCREENING; MEDICAL AUDIT; MIDDLE AGED; PEDIGREE; PILOT PROJECTS; YOUNG ADULT;

EID: 58149505978     PISSN: 00045632     EISSN: 00045632     Source Type: Journal    
DOI: 10.1258/acb.2008.008094     Document Type: Article

References (30)

1. Neil HA, Hammond T, Huxley R, Matthews DR, Humphries SE. Extent of underdiagnosis of familial hypercholesterolaemia in routine practice:prospective registry study. Br Med J 2000;321:148
2. The Simon Broome Register Group, Scientific Steering Committee on behalf of The Simon Broome Register Group. The risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ 1991;303:893-6
3. Marks D, Thorogood M, Farrer JM, Humphries SE. Census of clinics providing specialist lipid services in the United Kingdom. J Public Health (Oxf) 2004;26:353-4
4. 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
5. Slack J. Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. Lancet 1969;2:1380-2
6. Smilde TJ, van Wissen S, Wollersheim H, et al. Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): a prospective, randomised, double-blind trial. Lancet 2001;357:577-81
7. Betteridge DJ, Broome K, Durrington PN, et al. Scientific Steering Committee on behalf of the Simon Broome Register Group. Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Atherosclerosis 1999;142:105-12
8. Hadfield SG, Humphries SE. Implementation of cascade testing for the detection of familial hypercholesterolaemia. Curr Opin Lipidol 2005;16:428-33
9. Marks D, Wonderling D, Thorogood M, et al. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. Br Med J 2002;324:1303
10. Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet 2001;357:165-8
11. 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
12. Pocovi M, Civeira F, Alonso R, Mata P. Familial hypercholesterolemia in Spain: case-finding program, clinical and genetic aspects. Semin Vasc Med 2004;4:67-74
13. Bhatnagar D, Morgan J, Siddiq S, et al. Outcome of case finding among relatives of patients with known heterozygous familial hypercholesterolaemia. Br Med J 2000;321:1497-500
14. Marks D, Thorogood M, Neil SM, et al. Cascade screening for familial hypercholesterolaemia: implications of a pilot study for national screening programmes. J Med Screen 2006;13:156-9
15. Department of Health. Our Inheritance, Our Future: Realising the Potential of Genetics in the NHS. London: Stationery Office, 2003
16. Hadfield SG, Horara S, Starr BJ, et al. Are patients with familial hypercholesterolaemia well managed in lipid clinics? An audit of eleven clinics from the DH FH cascade testing project. Ann Clin Biochem 2008;45:199-205
17. Starr B, Hadfield SG, Hutten BA, et al. Development of sensitive and specific age- and gender-specific low density lipoprotein cholesterol cut-offs for diagnosis of relatives with familial hypercholesterolaemia in cascade testing. Clin Chem Lab Med 2008;46:791-803
18. White A, Cash K. The state of men's health in Western Europe. J Men's Health Gender 2004;1:60-6
19. Newson AJ, Humphries SE. Cascade testings in familial hypercholesterolaemia: how should family members be contacted? Eur J Hum Genet 2005;13:401-8
20. Suthers G, Armstrong J, McCormack J, Trott D. Letting the family know:balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder. J Med Genet 2006;43:665-70
21. Doran T, Drever F, Whitehead M. Is there a north-south divide in social class inequalities in helath in Great Britain? Cross-sectional study using data from the 2001 census. Br Med J 2004;328:1043-5
22. Wonderling D, Umans-Eckenhausen MA, Marks D, et al. Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands. Semin Vasc Med 2004;4:97-104
23. National Collaborating Centre for Primary Care. The Classification and Care of Women at Risk of Familial Breast Cancer in Primary, Secondary and Tertiary Care. See [http://guidance.nice.org.uk/nicemedia/pdf/CGH/Fullguide. pdf] (last accessed 28 August 2008)
24. Neil HA, Hammond T, Mant D, Humphries SE. Effect of statin treatment for familial hypercholesterolaemia on life assurance: results of consecutive surveys in 1990 and 2002. Br Med J 2004;328:500-1
25. Graham CA, McIlhatton BP, Kirk CW, et al. Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate. Atherosclerosis 2005;182:331 -40
26. 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
27. Capalbo C, Ricevuto E, Vestri A, et al. BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models. Ann Oncol 2006;17(Suppl. 7):vii34-vii40
28. Heath KE, Humphries SE, Middleton-Price H, Boxer M. A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom. Eur J Hum Genet 2001;9:244-52
29. Tosi I, Toledo-Leiva P, Neuwirth C, Naoumova RP, Soutar AK. Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic. Atherosclerosis 2007;194:102-11
30. DeMott K, Nherera L, Shaw EJ, et al. Clinical Guidelines and Evidence Review for Familial hypercholesterolaemia: the identification and management of adults and children with familial hypercholesterolaemia. London, National Collaborating Centre for Primary Care and Royal College of General Practitioners, 2008