The effect of cholestyramine on the faecal excretion of bile acids and neutral steroids in familial hypercholesterolaemia.

The faecal excretion of total bile acids was measured in two normal subjects and in seven patients with familial hypercholesterolaemia (four heterozygotes and three homozygotes) in the untreated state and during treatment with near-maximal doses of cholestyramine. There were no significant differences between the three groups. The increase in bile-acid excretion in response to cholestyramine was as great in the homozygotes as in the normal subjects. It is concluded that familial hypercholesterolaemia is not generally due to an inherited defect in the mechanisms for catabolizing cholesterol to bile acids.