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

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 (similar to 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 pound 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.