Increasing the Detection of Familial Hypercholesterolaemia Using General Practice Electronic Databases

Area of Science:

• Cardiology
• Genetics
• Public Health

Background:

• Familial hypercholesterolaemia (FH) is a genetic condition leading to premature cardiovascular disease.
• FH awareness is low, with only 10-15% of affected individuals identified.
• Electronic health records (EHR) offer a potential avenue for improving FH detection in primary care.

Purpose of the Study:

• To evaluate the effectiveness of a simple electronic extraction tool in increasing the detection of FH within general practice settings.

Main Methods:

• An electronic tool was utilized to screen general practice EHRs.
• The tool identified patients based on diagnostic criteria, demographic data, and cholesterol levels (total cholesterol and LDL-c).
• Data was analyzed from five general practices.

Main Results:

• Out of 157,290 patients, 0.7% had LDL-c > 5.0 mmol/L, indicating 1 in 146 patients at high risk.
• An additional 0.8% were identified as potentially at risk for FH.
• Notably, 43.7% of patients with elevated LDL-c were not on statin therapy, and only 0.013% had a recorded FH diagnosis.

Conclusions:

• A straightforward electronic screening method can effectively identify high-risk FH patients in general practice.
• Variability in clinical data entry within general practices was observed.
• This targeted screening approach facilitates clinical assessment for cardiovascular disease risk and improves FH identification in primary care, with approximately 20% of screened patients likely having probable FH.