Liver transplantation in patients with homozygotic familial hypercholesterolemia previously treated by end-to-side portocaval shunt and ileal bypass

Familial hypercholesterolemia is the result of mutations in the gene that e ncodes the synthesis of the cellular receptor for low density lipoprotein ( LDL). In the homozygous form of the disease (HFHC), cellular LDL receptors either do not form, or, when present, cannot bond LDL and mediate its cellu lar uptake LDL, and the cholesterol that it transports accumulate in plasma , producing severe premature atherosclerosis and death from coronary artery disease usually before the age of 20. Currently, the only effective treatm ent is liver transplantation, which, alone or in association with medicatio ns, normalizes plasma cholesterol levels. The authors report the cases of 2 siblings with HFHC who underwent portocaval shunt at the ages of 2.5 and 1 .5 years, respectively. Portocaval shunt produced an immediate, but insuffi cient decrease in cholesterol (by 40% and 35%, respectively), leaving them with cholesterol concentrations of about 500 mg/dL. One year later they eac h underwent ileal bypass without obtaining any significant response. Liver transplantation at the ages of 18 and 16 years, respectively, reduced plasm a cholesterol concentrations to 129 and 225 mg/dL, respectively. The earlie r operations seriously increased the technical difficulty of liver transpla ntation and did not produce a favorable effect on the natural course of the disease, so portocaval shunt and ileal bypass are not indicated in HFHC, n ot even for the purpose of delaying liver transplantation. Copyright (C) 20 00 by W.B. Saunders Company.