Introduction: Familial hypercholesterolaemia (FH) is caused by an autosomal dominant mutation of the low density lipoprotein (LDL) receptor gene, resulting in high levels of LDL cholesterol and premature coronary artery disease (P-CAD). Studies have shown low detection rates of FH in patients admitted with P-CAD and suboptimal therapy at discharge.
Methods: Males aged ≤ 55 years and females aged ≤ 60 years who were admitted with P-CAD to the Gold Coast Hospital during a 12-month period were included in the study. The demographics, cardiovascular risk factors, examination findings, admission and discharge cardiac medications and provisional diagnoses were recorded. Diagnosis of FH was made according to internationally accepted criteria.
Results: 210 patients were included in the study; 60% were male and 40% female (mean age 48 and 50 years, respectively). Only 96 (46%) patients' fasting lipid levels were documented (LDL-C 2.75 ± 1.0 mmol/L), and FH was considered in three (1%) cases. According to the Dutch Lipid Network criteria, three (1%) patients had probable FH, 50 (24%) had possible FH and 60 (29%) had unlikely FH. Of the 53 patients with probable or possible FH, 12 (23%) were discharged without statin therapy and 13 (25%) on the maximum recommended statin dose.
Conclusion: Our study has found inadequate documentation and screening for FH and suboptimal therapy in patients admitted with P-CAD. We propose a simple screening tool that can be applied to all patients admitted with suspected P-CAD in order to improve the detection rate of FH and its management.