Familial Hypercholesterolemia (FH) is underdiagnosed although the estimated prevalence of Heterozygous FH is high, 1/500 to 1/200. Adequate identification and familial screening of suspected cases is important to prevent premature cardiovascular disease, due to extremely high numbers of atherogenic LDL particles accumulating in the blood circulation.
Familial screening should be initiated in adults with total cholesterol >310 mg/dL
and/or LDL-cholesterol >200 mg/dL
, in children >230 mg/dL and >135 mg/dL, respectively, and the diagnosis of FH should be confirmed using the DLCN score chart