Prediction of cardiovascular risk in patients with familial hypercholesterolaemia

Patients with familial hypercholesterolaemia (FH) have an elevated cardiovascular (CV) risk. The objective of this analysis was to adjust CV risk equations derived in non-FH populations with hyperlipidaemia to predict CV risk in FH patients, and then to use these adjusted CV risk equations in a decision analytic model in order to predict lifetime CV risk in FH patients.

A literature search of publications reporting CV risk in FH patients identified the publication with the most credible estimate of CV risk increase. A CV event rate ratio (RR) (FH vs. non-FH) was derived from reported odds ratios by pooling treated and untreated patients. Predicted CV event risks based on non-FH risk equations were adjusted with the RR to reflect CV risk in FH patients. A decision analytic model incorporating these adjusted risk equations was used to predict 10-year and lifetime CV risk in FH patients. Combining the derived RR of 7.1 (95% CI: 5.7-8.7) with the predicted CV risks in a decision analytic model yielded 10-year and lifetime risk estimates of 45% and 88% in FH patients based on the RUTHERFORD-2 trial population. Based on the initial (cross-sectional) RR of 7.1, FH patients were predicted to have 3.9 times more events over their lifetime than non-FH patients with a similar risk profile.

The CV risk in FH is high and represents an unmet medical need for patients. Increased efforts for better diagnosis and management of FH should be employed to improve patient outcomes.