Outcome of case finding among relatives of patients with known heterozygous familial

doi:10.1136/bmj.321.7275.1497

BMJ 2000;321:1497 ( 16 December )

Papers

Outcome of case finding among relatives of patients with known heterozygous familial hypercholesterolaemia

D Bhatnagar, senior lecturer, ^a J Morgan, research sister, ^a S Siddiq, house officer, ^a M I Mackness, lecturer, ^a J P Miller, consultant, ^b P N Durrington, professor. ^a

^a University of Manchester, Department of Medicine, Manchester Royal Infirmary, Manchester M13 9WL, ^b Department of Gastroenterology, University Hospital of South Manchester, Manchester M20 2LR

Correspondence to: P N Durrington pdurrington{at}hq.cmht.nwest.nhs.uk

Objectives: To assess the feasibility of detecting newcases of heterozygous familial hypercholesterolaemia by usinga nurse led geneticregister.
Design: Case finding among relatives of patients withfamilialhypercholesterolaemia.
Setting: Two lipid clinics in central and southManchester.
Subjects: 259 (137 men and 122 women) probands and 285first degreerelatives.
Results: Of the 200 first degree relatives tested,121 (60%) had inherited familial hypercholesterolaemia. The newlydiagnosed patients were younger than the probands and were generallydetected before they had clinically overt atherosclerosis. Concentrationsof serum cholesterol were, respectively, 8.4 (1.7 SD) mmol/l and8.1 (1.9 SD) mmol/l in affected men and women and 5.6 (1.0 SD)mmol/l and 5.6 (1.1 SD) mmol/l in unaffected men and women. Screeningfor risk factors as recommended in recent guidelines for coronaryheart disease prevention would have failed to identify most ofthe affected relatives in whom hypertension, diabetes mellitus,cigarette smoking, and obesity wereuncommon.
Conclusions: By performing cholesterol tests on 200 relatives,121 new patients with familial hypercholesterolaemia were discovered.Because 1 in 500 people in the UK are affected by this condition,to detect a similar number by population screening over 60 000tests would be required, and only a few of these patients wouldhave been detected had cholesterol testing been restricted tothose with other risk factors for coronary heart disease. A caseexists for organising a genetic register approach, linking lipidclinicsnationally.

© BMJ 2000

CiteULike

Complore

Connotea

Del.icio.us Add to Digg

Digg

StumbleUpon Add to Technorati

Technorati What's this?

Relevant Articles

Hypercholesterolaemia and its management: Deepak Bhatnagar, Handrean Soran, and Paul N Durrington
BMJ 2008 337: a993. [Extract] [Full Text]

Cascade testing is tried and tested and cost effective: Gaye S Hadfield and Steve E Humphries
BMJ 2007 335: 683. [Extract] [Full Text] [PDF]

Screening for familial hypercholesterolaemia: Brian Tomlinson, Irene Wei Lan, Ian Hamilton-Craig, Paul Nicholls, Ian Young, Kelly Lyttle, and Colin Graham
BMJ 2001 322: 1061. [Extract] [Full Text]

Getting closer to patients and their families
BMJ 2000 321: 0. [Full Text] [PDF]

Getting closer to patients and their families
BMJ 2000 321: 0. [Full Text] [PDF]

Screening relatives for familial hypercholesterolaemia can detect new patients
BMJ 2000 321: 0. [Full Text]

Screening for familial hypercholesterolaemia: J J P Kastelein
BMJ 2000 321: 1483-1484. [Extract] [Full Text] [PDF]

This article has been cited by other articles:

Durrington, P. (2009). NICE guidance for identification and treatment of familial hypercholesterolaemia: Commentary 2. Heart 95: 589-591 [Full text]
Minhas, R, Humphries, S E, Qureshi, N, Neil, H A W, on behalf of the NICE Guideline Development Group, (2009). Controversies in familial hypercholesterolaemia: recommendations of the NICE Guideline Development Group for the identification and management of familial hypercholesterolaemia. Heart 95: 584-587 [Full text]
Hadfield, S G, Horara, S, Starr, B J, Yazdgerdi, S, Marks, D, Bhatnagar, D, Cramb, R, Egan, S, Everdell, R, Ferns, G, Jones, A, Marenah, C B, Marples, J, Prinsloo, P, Sneyd, A, Stewart, M F, Sandle, L, Wang, T, Watson, M S, Humphries, S E, on behalf of the Steering Group for the Department, (2009). Family tracing to identify patients with Familial Hypercholesterolaemia: the second Audit of the Department of Health Familial Hypercholesterolaemia Cascade Testing Project. Ann Clin Biochem 46: 24-32 [Abstract] [Full text]
Bhatnagar, D., Soran, H., Durrington, P. N (2008). Hypercholesterolaemia and its management. BMJ 337: a993-a993 [Full text]
Humphries, S. E, Hadfield, G. (2008). Identifying patients with familial hypercholesterolaemia in primary care. Heart 94: 695-696 [Full text]
Gray, J, Jaiyeola, A, Whiting, M, Modell, M, Wierzbicki, A S (2008). Identifying patients with familial hypercholesterolaemia in primary care: an informatics-based approach in one primary care centre. Heart 94: 754-758 [Abstract] [Full text]
Hadfield, S G, Horara, S, Starr, B J, Yazdgerdi, S, Bhatnagar, D, Cramb, R, Egan, S, Everdell, R, Ferns, G, Jones, A, Marenah, C B, Marples, J, Prinsloo, P, Sneyd, A, Stewart, M F, Sandle, L, Wang, T, Watson, M S, Humphries, S E (2008). Are patients with familial hypercholesterolaemia well managed in lipid clinics? An audit of eleven clinics from the Department of Health Familial Hypercholesterolaemia Cascade Testing project. Ann Clin Biochem 45: 199-205 [Abstract] [Full text]
Hadfield, G. S, Humphries, S. E (2007). Cascade testing is tried and tested and cost effective. BMJ 335: 683-683 [Full text]
Neil, H A W, Seagroatt, V, Betteridge, D J, Cooper, M P, Durrington, P N, Miller, J P, Seed, M, Naoumova, R P, Thompson, G R, Huxley, R, Humphries, S E (2004). Established and emerging coronary risk factors in patients with heterozygous familial hypercholesterolaemia. Heart 90: 1431-1437 [Abstract] [Full text]
Austin, M. A., Hutter, C. M., Zimmern, R. L., Humphries, S. E. (2004). Genetic Causes of Monogenic Heterozygous Familial Hypercholesterolemia: A HuGE Prevalence Review. Am J Epidemiol 160: 407-420 [Abstract] [Full text]
Thorsson, B., Sigurdsson, G., Gudnason, V. (2003). Systematic Family Screening for Familial Hypercholesterolemia in Iceland. Arterioscler. Thromb. Vasc. Bio. 23: 335-338 [Abstract] [Full text]
Umans-Eckenhausen, M. A. W., Defesche, J. C., van Dam, M. J., Kastelein, J. J. P. (2003). Long-term Compliance With Lipid-Lowering Medication After Genetic Screening for Familial Hypercholesterolemia. Arch Intern Med 163: 65-68 [Abstract] [Full text]
Marks, D., Wonderling, D., Thorogood, M., Lambert, H., Humphries, S. E, Neil, H A. W (2002). Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. BMJ 324: 1303-1303 [Abstract] [Full text]
Day, I. N M, Wilson, D. I (2001). Science, medicine, and the future: Genetics and cardiovascular risk. BMJ 323: 1409-1412 [Full text]
Tomlinson, B., Lan, I. W., Hamilton-Craig, I., Nicholls, P., Young, I., Lyttle, K., Graham, C. (2001). Screening for familial hypercholesterolaemia. BMJ 322: 1061a-1061 [Full text]
(2001). Successful Screening for Familial Hypercholesterolemia. Journal Watch Cardiology 2001: 6-6 [Full text]
(2001). Case Finding for Familial Hypercholesterolemia Bears Fruit. JWatch General 2001: 5-5 [Full text]
Kastelein, J J P (2000). Screening for familial hypercholesterolaemia. BMJ 321: 1483-1484 [Full text]

Rapid Responses:

Read all Rapid Responses

Screening for Familial Hypercholesterolaemia: David Oleesky
bmj.com, 12 Jan 2001 [Full text]
Screening for Familial Hypercholesterolaemia: D P Nicholls
bmj.com, 15 Jan 2001 [Full text]
Case finding among relatives of patients with known heterozygous familial hypercholesterolaemia: Brian Tomlinson
bmj.com, 27 Feb 2001 [Full text]
Genetic screening for the diagnosis of familial hypercholesterolaemia: Eliaf Moses
bmj.com, 24 Feb 2001 [Full text]