VALIDATION OF CLINICAL DIAGNOSTIC CRITERIA OF FAMILIAL HYPERCHOLESTEROLEMIA IN JAPAN: EVIDENCE FROM A COMPREHENSIVE GENETIC ANALYSIS

Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially fatal, treatable condition remains underdiagnosed. Japanese clinical diagnostic criteria of FH include LDL cholesterol level ≥ 180 mg/dl, Achilles tendon thickness (ATT) ≥ 9.0 mm, and family history