Genetic diagnosis of familial hypercholesterolemia is associated with a premature and high coronary heart disease risk

BACKGROUND: Familial hypercholesterolemia (FH) is a common autosomal dominant disease associated with premature coronary heart disease (CHD). Studies tend to show that patients with FH associated with an identified mutation (mutation+ FH) are at higher risk than patients without an identified mutation (mutation– FH). We compared the clinical and biological profile and the risk of CHD in patients with mutation+ FH and mutation– FH. HYPOTHESIS: In addition to LDL‐C, a pathogenic mutation predicts premature CHD in FH. METHODS: We successively included all patients with suspected FH (LDL‐C > 190 mg/dL if age > 18 years; LDL‐C > 160 mg/dL if age