Study of LDL receptors and response to lovastatin therapy in familial homozygotic hypercholesterolemia

: This study shows the results obtained with lovastatin as a combined therapy with probucol and cholestyramine on the lipid profile of two patients with homozygous familial hypercholesterolemia. Both have been diagnosed according to the clinical and biochemical criteria (tipe IIa hypercholesterolemia) as well as by the cholesterol or low density lipoprotein (LDL-C) receptor analysis. After the initial probucol and cholestyramine treatment we observed a drop of total cholesterol (T-C) of 41.7% and 46% as well as LDL-C of 51.6% and 49.3% in both patients. Respectively when lovastatin were associated an additional drop of T-C of 23.7%, LDL-C of 23.2%, high-density lipoprotein cholesterol (HDL-C) of 22.4% and the apoprotein B (Apo B) of 37% were obtained in one patient (receptor-defective) but no change in the lipid profile were obtained in the other patient (receptor-negative). No adverse effects were observed with this drug. This drug could be of help as a combined therapy in the treatment of homozygous familial hypercholesterolemia, even though the treatment of choice is the LDL-plasma feresis and/or liver transplantation. We expound the difficulties relate to LDL receptor study in homocygous receptor-negative patients.