Impact of interpretative commenting on lipid profiles in people at high risk of familial hypercholesterolaemia

• Familial hypercholesterolaemia (FH) is an underdiagnosed disorder.
• Adding interpretative comments to lipid profiles assists in FH detection.
• Interpretative commenting was associated with greater LDL-c reductions.
• Specific comments increased specialist referral rates.

BackgroundFamilial hypercholesterolaemia (FH) is an autosomal dominant condition characterised by increased low density lipoprotein cholesterol (LDL-c), xanthomata and premature cardiovascular disease. However, it is currently underdiagnosed and undertreated in Australasia. We sought to investigate whether interpretative commenting on lipid profiles could improve FH detection and treatment.MethodsA case–historical control study of individuals with serum LDL-c concentrations ≥ 6.5 mmol/L; 96 cases receiving an interpretative comment suggesting FH compared with 100 controls not receiving a comment.ResultsSerum LDL-c was repeated in 63 (66%) cases and 70 (70%) controls within 12 months. LDL-c decreased in 59 (94%) cases and in 61 (87%) controls. In individuals with a repeat LDL-c, a mean LDL-c reduction of 2.3 mmol/L (32%; p < 0.0001) was demonstrated in controls, compared with 3.0 mmol/L (42%; p < 0.0001) in cases; significantly greater than that of controls (p < 0.005). Interpretative comments suggesting specialist review were associated with a higher referral rate compared with controls (11.5% vs 1%, p < 0.05).ConclusionInterpretative commenting was associated with a significant additional LDL-c reduction and increased specialist referrals compared with controls. However, only a minority of individuals received a specialist referral. Interpretative commenting may play an important role in the detection and management of FH.