High Cardiovascular Disease Risk and Low Lipid-Lowering Treatment in Heterozygous Familial Hypercholesterolemia Patients: A French Nationwide Registry

OBJECTIVES: Heterozygous familial hypercholesterolemia (HFH) is increasingly better diagnosed and treatments can improve the cardiovascular prognosis. We evaluated the long-term cardiovascular risk of HFH using the French REFERCHOL registry.

METHODS:

We studied HFH patients diagnosed genetically and clinically by the Dutch Lipid Clinic Network (DLCN) criteria and their 5-year risk of cardiovascular events (all fatal and non-fatal acute coronary, cerebral and peripheral arterial disease events, aortic valve replacement surgery) using the French national health data system (SNDS).

RESULTS:

The database comprised 3202 individuals, 2010 (62.8%) with genetically verified HFH and 1192 (37.2%) a DLCN score ≥6. Of these individuals, 2485 (77.6%) were in primary prevention and 717 (22.4%) in secondary prevention. The incidence of cardiovascular events was 51.80 per 1000 person-years for the overall sample, 36.45 in primary prevention and 106.69 in secondary prevention. The incidence of myocardial infarction, cerebral infarction and death was 34.40 per 1000 person-years for the overall sample, 24.61 in primary prevention and 69.04 in secondary prevention. The incidence of aortic valve replacement was 3.75 per 1000 person-years. In the overall sample, 41% were not treated for LDL cholesterol at inclusion, 48% of these in primary prevention and 20% in secondary prevention. High-dose statins were used by only 24% of individuals, 15% of these in primary prevention and 45% in secondary prevention.

CONCLUSIONS: The incidence of cardiovascular events in HFH is high and lipid-lowering treatment is far from optimal. The cardiovascular risk of HFH is underestimated and patients are inadequately treated.