Detecting familial hypercholesterolaemia in the community: Impact of a telephone call from a chemical pathologist to the requesting general practitioner

Objective: To determine whether a telephone call from a chemical pathologist to the requesting general practitioner (GP) of individuals at high risk of familial hypercholesterolaemia (FH) increases specialist referral and detection of FH. Method: Individuals with an LDL-cholesterol ≥6.5mmol/L without secondary causes were identified from a community laboratory; 100 cases and 96 historical controls. All laboratory reports (cases and controls) received interpretative comments highlighting FH. In addition, the cases' GPs received a telephone call from the chemical pathologist to highlight their patient's risk of FH and suggest specialist referral, whereas with the controls' GPs were not telephoned. Results: After 12 months follow-up, 27 (27%) cases were referred to clinic compared with 4 (4%) controls (p