Prevalence and predictors of subclinical coronary artery disease in patients with confirmed heterozygous familial hypercholesterolaemia

Background: Familial hypercholesterolaemia (FH) is associated with a marked increase in risk of premature coronary artery disease (CAD). The aim of this study is to describe the prevalence and predictors of subclinical CAD in those with genetically proven heterozygous familial hypercholesterolaemia (HeFH). Methods: Patients were sourced from the FHWA clinic. All cases were known to have genetically proven FH, and no history of symptomatic CAD. As part of their clinical care patients were offered a coronary CT scan (CTCA and CAC). Demographic, biochemical and clinical data were prospectively collected. All CT scans were reviewed by a single cardiologist. Results: 34 patients underwent CT scanning; 18 were male, mean age was 50.5 years, 47% were current or ex-smokers, 32% were hypertensive, 3% diabetic and 90% had a first degree relative with CAD. Mean peak off treatment total cholesterol was 9.7mmol/L, mean on treatment total cholesterol was 5.3 mmol/L. 57.6% of cases had a coronary calcium score of >0 and 21% had at least one epicardial artery stenosis of greater than 50%. Increased coronary calcium score was associated with increasing age (OR 1.12 95% CI 1.03-1.24 p = 0.0025), peak untreated cholesterol (OR 3.71 95% CI 1.72-11.74 p <0.0001) and peak LDL cholesterol (OR 2.38 95% CI 1.28-5.57 p = 0.0021). Conclusions: A significant proportion of those with genetically proven FH have evidence of subclinical CAD. Increasing age, off treatment peak total and LDL-C were predictors of subclinical CAD. CTCA probably adds little information not detectable on CAC. CSANZ NZ AbstractsHeart, Lung and CirculationVol. 23Preview Full-Text PDF