Family tracing to identify patients with Familial Hypercholesterolaemia: the second Audit of the Department of Health Familial Hypercholesterolaemia Cascade Testing Project

This version was published on 1 January 2009

Ann Clin Biochem 2009;46:24-32
© 2009 Association for Clinical Biochemistry


This Article

Figures Only

Full Text

Full Text (PDF)

All Versions of this Article:



most recent

Alert me when this article is cited

Alert me if a correction is posted

Email this article to a friend

Similar articles in this journal

Similar articles in PubMed

Alert me to new issues of the journal

Download to citation manager

Google Scholar

Articles by Hadfield, S G

PubMed Citation
Social Bookmarking

What’s this?

Original Articles

S G Hadfield1,
S Horara1,
B J Starr1,
S Yazdgerdi1,
D Marks2,
D Bhatnagar3,
R Cramb4,
S Egan5,
R Everdell5,
G Ferns6,
A Jones7,
C B Marenah8,
J Marples9,
P Prinsloo8,
A Sneyd8,
M F Stewart10,
L Sandle11,
T Wang6,12,
M S Watson6,
S E Humphries13 on behalf of the Steering Group for the Department of Health Familial Hypercholesterolaemia Cascade Testing Audit Project

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

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

Background: Family tracing is a method recognized to find new patients withfamilial hypercholesterolaemia (FH). We have implemented familytracing led by FH Nurses and have determined acceptability topatients, feasibility and costs.

Methods: Nurses were located at five National Health Service (NHS) Trusts;they identified FH patients and offered them family tracing.Responses and test results were recorded on a database and summarizedon a family pedigree.

Results: The majority (70%) of index cases participated; the proportion was lower when patients had been discharged from the clinics and in metropolitan areas. On average, 34% (range 13–50%) of relatives lived outside the catchment area of the clinics and could not attend the nurse-led FH clinics. Of the previously untested relatives, 76% who lived in the catchment area of the clinic came forward to be tested. One-third of the relatives who came forward for testing were children 16 y of age. Theproportion of relatives diagnosed as likely to have FH was lowerthan would be predicted (30% vs. 50%). This was mainly due tothe uncertainty of a diagnosis based on lipid measurements.The average cost to identify and test one relative was approximately£500 but was higher in the metropolitan areas.

Conclusion: Cascade testing for FH in the UK is feasible, acceptable andlikely to be cost-effective if it is a routine aspect of clinicalcare. However, national implementation would require an integratedinfrastructure, so that all individuals have access to testing,and specialist services for the management of young people.

CiteULike    Complore    Connotea    Digg    Reddit    Technorati    What’s this?