Evaluation of bile acid malabsorption by plasma cholesterol precursor sterols in familial hypercholesterolaemia patients with and without ileal exclusion.

To evaluate the value of plasma cholesterol precursor sterols in the detection of bile acid malabsorption we measured these sterols in 14 familial hypercholesterolaemia patients, seven with and seven without an ileal exclusion. In the operated subjects bile acid malabsorption had induced a 4.8-fold increase in cholesterol synthesis, accompanied by a 1.9-5.1-fold increase in the plasma content of the eight cholesterol precursor sterols studied. There was no overlap between the two groups in any of these sterols, when total and free sterols were considered, and only three of the esterified sterols overlapped. The tri- and dimethyl sterols were mostly unesterified, monomethyl sterols modestly esterified and the demethylated sterols, especially desmosterol, were mainly esterified. The plasma lathosterol content segregated most clearly the patients with bile acid malabsorption from the controls. The lowest lathosterol value of the operated patients was 2.5-fold higher than the highest value of the control patients. Because lathosterol is the most abundant of the plasma cholesterol precursor sterols and is relatively easy to quantitate, it is suggested that plasma lathosterol measurement can be used in the detection of bile acid malabsorption.