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 2008;45:199-205
© 2008 Association for Clinical Biochemistry


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Original Article

S G Hadfield 1,
S Horara 1,
B J Starr 1,
S Yazdgerdi 1,
D Bhatnagar 2,
R Cramb 3,
S Egan 4,
R Everdell 4,
G Ferns 5,
A Jones 6,
C B Marenah 7,
J Marples 8,
P Prinsloo 7,
A Sneyd 7,
M F Stewart 9,
L Sandle 10,
T Wang 5 11,
M S Watson 5 and
S E Humphries 12 

1 London IDEAS Genetics Knowledge Park, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK;
2 The Royal Oldham Hospital, The Pennine Acute Hospitals NHS Trust, Rochdale Road, Oldham OL1 2JH, UK;
3 The Queen Elizabeth Hospital, University Hospital Birmingham NHS Trust, Edgbaston, Birmingham B15 2TH, UK;
4 Royal Bournemouth Hospital, The Royal Bournemouth & Christchurch Hospitals NHS Trust, Castle Lane East, Bournemouth BH7 7DW, UK;
5 Royal Surrey County Hospital, Royal Surrey County Hospital NHS Trust, Egerton Road, Guildford, Surrey GU2 7XX, UK;
6 Heart of England NHS Foundation Trust, Birmingham B9 5SS, UK;
7 Nottingham University Hospitals NHS Trust, City Campus, Hucknall Road, Nottingham NG5 1PB, UK;
8 Royal Albert Edward Infirmary, Wrightington, Wigan & Leigh NHS Trust, Wigan Lane, Wigan WN1 2NN, UK;
9 Hope Hospital, Salford Royal Hospitals NHS Trust, Stott Lane, Salford M6 8HD, UK;
10 Trafford General Hospital, Trafford Healthcare NHS Trust, Moorside Road, Davyhulme, Manchester M41 5SL, UK;
11 Frimley Park Hospital NHS Foundation Trust, Portsmouth Road, Frimley, Surrey GU16 7UJ, UK;
12 British Heart Foundation Laboratories, Centre for Cardiovascular Genetics, The Rayne Building, Royal Free and University College London Medical School, London WC1E 6JJ, UK

Corresponding author: Professor S E Humphries. Email: rmhaseh{at}

Background: Familial hypercholesterolaemia (FH) is an autosomal co-dominantdisorder which is relatively common, leads to high levels ofLDL-cholesterol and if untreated to early coronary heart disease.An audit of current practice at National Health Service Trustsin England was undertaken to determine whether FH patients meetthe diagnostic criteria for FH; are being offered appropriateadvice and treatment; and to what extent their families arecontacted and offered testing for the disorder.

Methods: Medical records of known FH patients (over 18 years of age anddiagnosed before 31 December 2003) were accessed to obtain informationon diagnosis, treatment and family tracing.

Results: The records of 733 FH patients were examined, 79% met the UK‘Simon Broome’ register criteria for the diagnosisof definite or possible FH. Analyses showed that patients wereusually offered appropriate advice and treatment, with 89% beingon a statin. However, the audit indicated a high variabilityin family tracing between the sites, with significant differencesin the frequency of inclusion of a family pedigree in the notes(range 1–71%, mean 35%); the general practitioner (GP)being advised that first-degree relatives should be tested (range4–52%, mean 27%); and the proportion of relatives contactedand tested (range 6–50%, mean 32%).

Conclusion: FH patients are well cared for in lipid clinics in England,are being given appropriate lifestyle advice and medication,but an increase in recording of LDL-cholesterol levels may leadto improvements in their management. Practice in family tracingappears to vary widely between clinics.

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R Minhas, S E Humphries, N Qureshi, H A W Neil, and on behalf of the NICE Guideline Development Group
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Home page Ann Clin BiochemHome page

S G Hadfield, S Horara, B J Starr, S Yazdgerdi, D Marks, D Bhatnagar, R Cramb, S Egan, R Everdell, G Ferns, et al.
Family tracing to identify patients with Familial Hypercholesterolaemia: the second Audit of the Department of Health Familial Hypercholesterolaemia Cascade Testing Project
Ann Clin Biochem,

January 1, 2009;
24 – 32.

[Full Text]