Web based tools to assess eligibility for genetic testing for Familial Hypercholesterolaemia (FH)

Abstract

Selection of patients who are appropriate for genetic testing for FH is a balance between diagnostic yield and cost. The Wales FH service has implemented a clinical scoring system to guide the selection of patients based on lipid levels, personal and family history of cardiovascular disease plus physical signs. In an evaluation of 623 patients referred to lipid clinics, the proportion of patients with a mutation ranged from 4% in those scoring 5 or less to 85% in those scoring >15.