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 >= 6.5 mmol/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 < 0.0001). 25 cases were reviewed at clinic, 12 (48%) had definite FH and 18 (72%) had probable or definite FH according to the Dutch Lipid Clinic Network Criteria, 2 cases did not attend their clinic appointments. Genetic testing was performed in 23 individuals: 7 (30%) had pathogenic FH mutations. Genotypic cascade screening of 4 kindreds from the intervention group detected an additional 7 individuals with FH and excluded 5 mutation-negative family members. Conclusions: A telephone call from a chemical pathologist to the requesting GP of patients at high risk of FH was associated with significantly higher rates of FH detection and specialist referral. Over 70% of individuals with an LDL-cholesterol >= 6.5 mmol/L were diagnosed with FH. However, further investigation is required to improve the relatively low referral rate. (C) 2014 Elsevier Ireland Ltd. All rights reserved.