0033: Unexpected high prevalence of possible and probable familial hyper-cholesterolemia in clinical practice – the DYSIS study

Abstract

The recent EAS consensus paper on familial hypercholesterolæmia (FH) indicates a higher prevalence of elevated LDL-C due to genetic reasons than previously estimated. We aimed to determine the percentage of patients with very high LDL-C levels in the DYSIS study. The cross-sectional, observational study DYSIS examined lipid goal attainment among statin-treated patients in Canada, Europe, the Middle East, Egypt and South Africa. In this analysis we evaluated DYSIS patients to determine very high LDL-C with potential genetic background. We examined the number of patients with LDL-C >190mg/dl despite statin therapy, the number of patients with possible FH (Score 3-5 according to the Dutch Advanced Method) and the number of patients with probable FH (Score 6-8). This score includes several parameters: first degree relative known with premature CHD and/or first degree relative with LDL-C >95 th percentile (1 point); first degree relative with tendon xanthomas or children with LDL-C >95 th percentile (2 points); the patient has premature CAD (2 points), the patient has premature cerebral or peripheral vascular disease (1 point); the patient has tendon xanthomas (6 points), the patient has corneal arcus below the age of 45 years (4 points); LDL-C >330mg/dl (8 points), LDL-C between 250 and 329mg/dl (5 points), LDL-C between 190 and 249mg/dl (3 points) and LDL-C between 155 and 189mg/dl (1 point). The prevalence of patients with LDL-C >190mg/dl despite statin therapy was 3% (UK 0.8%, France 3.5%, Spain 4.2%). The prevalence of patients with possible FH (Score 3-5) was 6% (UK 4.4%, France 5.9%, Spain 5.7%). The prevalence of patients with probable FH (Score 6-8) was 0.3% (UK 0%, France 0.1%, Spain 0.2%). In this multinational study of statin-treated patients, 2.9% showed an elevated LDL-C above 190mg/dl. Genetic causes may explain the very high LDL-C levels despite statin therapy in the DYSIS study.