Is responsiveness to lovastatin in familial hypercholesterolaemia heterozygotes influenced by the specific mutation in the low-density lipoprotein receptor gene?

Lovastatin is one of the most commonly used lipid-lowering drugs in familial hypercholesterolaemia (FH) heterozygotes. In order to study whether the response to lovastatin is influenced by the underlying mutation in the low-density lipoprotein (LDL) receptor gene, the authors compared the response in 24 heterozygotes in whom the mutation has been classified and in 34 heterozygotes in whom the mutation has not been classified. Those possessing a classified mutation had significantly higher pre-trial values of LDL-cholesterol than those possessing an unclassified mutation. However, no difference was found in the response to lovastatin. Nor were there any differences in the response between subjects possessing one of the three different classified mutations. Furthermore, irrespective of whether or not the mutation had been classified, no difference in the response was found between subjects in the upper and lower quartile with respect to pre-trial values of LDL-cholesterol. The authors conclude that the response to lovastatin is independent of both the specific mutation in the LDL receptor gene and the actual cholesterol level in FH heterozygotes.