Cosegregation of serum cholesterol with cholesterol intestinal absorption markers in families with primary hypercholesterolemia without mutations in LDLR, APOB, PCSK9 and APOE genes.

•Cholesterol absorption is increased in non-FH hypercholesterolemic families.•Cholesterol absorption serum markers are positively associated with LDL-cholesterol.•Hyperabsorption in affected families does not suggest a monogenic defect.•Sterol absorption variation is involved in non-FH hypercholesterolemia pathogenesis.