1: J Pediatr Surg 2000 Apr;35(4):630-3

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

Lopez-Santamaria M, Migliazza L, Gamez M, Murcia J, Diaz-Gonzalez M, Camarena C,
Hierro L, De la Vega A, Frauca E, Diaz M, Jara P, Tovar J
Department of Pediatric Surgery, Pediatric Hospital La Paz, Madrid, Spain
Abstract
Familial hypercholesterolemia is the result of mutations in the gene that
encodes 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 cellular
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 treatment is
liver transplantation, which, alone or in association with medications,
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 insufficient decrease
in cholesterol (by 40% and 35%, respectively), leaving them with cholesterol
concentrations of about 500 mg/dL. One year later they each underwent ileal
bypass without obtaining any significant response. Liver transplantation at the
ages of 18 and 16 years, respectively, reduced plasma cholesterol concentrations
to 129 and 225 mg/dL, respectively. The earlier operations seriously increased
the technical difficulty of liver transplantation 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, not even for the purpose of delaying
liver transplantation