Increasing the Detection of Familial Hypercholesterolaemia Using General Practice Electronic Databases

Background Familial hypercholesterolaemia (FH) is a common autosomal co-dominant condition that causes premature cardiovascular disease. Awareness of FH is poor and only 10–15% of the affected population is identified. Electronic health records provide an opportunity to increase detection and awareness in general practice Objective To determine whether a simple electronic extraction tool can increase detection of FH in general practice. Method An extraction tool applied to general practice electronic health records (EHR) to screen for FH, total cholesterol and low density lipoprotein cholesterol (LDL-c) levels in association with entered diagnostic criteria and demographic data in five general practices. Results Of 157,290 active patients examined, 0.7% (n=1081) had an LDL-c>5.0 mmol/L representing 1 in 146 of active patients. An additional 0.8% (n=1276) patients were at possible risk of FH. Of those with an LDL-c>5.0 mmol/L 43.7% of patients had no record of being prescribed statins. Twenty patients (0.013%) had a clinical diagnosis of FH entered in the EHR. Conclusions Patients at high risk of FH can be identified by a simple electronic screening method in general practice. Clinical data entry is variable in general practice. Targeted screening enables clinical assessment of patients at risk of cardiovascular disease and using the DLCNS will enable primary care to increase identification of FH. Approximately one in five patients extracted using this method, are likely to have phenotypically probable FH, making it a useful screening tool.