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
doi:10.1258/acb.2008.008094
© 2009 Association for Clinical Biochemistry

 

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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}ucl.ac.uk


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.

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