Family tracing to identify patients with familial hypercholesterolaemia: the second audit of the Department of Health Familial Hypercholesterolaemia Cascade Testing Project.
Hadfield, SG;
Horara, S;
Starr, BJ;
Yazdgerdi, S;
Marks, D;
Bhatnagar, D;
Cramb, R;
Egan, S;
Everdell, R;
Ferns, G;
+11 more...Jones, A;
Marenah, CB;
Marples, J;
Prinsloo, P;
Sneyd, A;
Stewart, MF;
Sandle, L;
Wang, T;
Watson, MS;
Humphries, SE;
Steering Group for the Department of Health Familial Hypercholes;
(2009)
Family tracing to identify patients with familial hypercholesterolaemia: the second audit of the Department of Health Familial Hypercholesterolaemia Cascade Testing Project.
Annals of clinical biochemistry, 46 (Pt 1).
pp. 24-32.
ISSN 0004-5632
DOI: https://doi.org/10.1258/acb.2008.008094
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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 ( approximately 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 <or=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 pound 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.