Annals of Clinical Biochemistry > Volume 46, Number 1 > Pp. 24-32

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Original Articles

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

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 Wang^6,12, 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 with familial hypercholesterolaemia (FH). We have implemented family tracing led by FH Nurses and have determined acceptability to patients, 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 summarized on 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. The proportion of relatives diagnosed as likely to have FH was lower than would be predicted (30% vs. 50%). This was mainly due to the 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 and likely to be cost-effective if it is a routine aspect of clinical care. However, national implementation would require an integrated infrastructure, so that all individuals have access to testing, and specialist services for the management of young people.

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