Homozygous familial hypercholesterolemia (HFHC) is a rare inherited condition with an incidence of one in one million. It is associated with severe premature
atherosclerosis and early death from cardiovascular complications. Mutation in the gene that encodes the synthesis of the cellular receptor for
low-density lipoprotein (
LDL) is responsible for this metabolic disorder. Currently, the only effective treatment for this disease is
liver transplantation, which alone or in association with medications, normalizes plasma
cholesterol level. The authors report the results of
liver transplantation for two cases of HFHC. The first case, a 15-year-old boy received a whole liver from a deceased donor, and the second, an 11-year-old boy, received a left liver lobe transplant from his mother's sister. Their preoperative fasting
lipid concentrations were grossly raised. The older boy had severe atherosclerotic
heart disease and had undergone
coronary artery bypass grafting 5 months before
transplantation. Both had preoperative plasma
cholesterol levels higher than 750 mg/dL with normal thyroid and liver function tests. After the operation, the patients received
methylprednisolone as pulse
therapy followed by oral
prednisolone,
mycophenolate mofetil, and
tacrolimus for immunosuppression. Their
hospital stays were 24 and 13 days, respectively. The first case needed reexploration because of
bleeding on the second day after the operation. The
lipid concentrations rapidly returned to the normal range in the first week after the operation, remaining in this range over the first 6 months of follow-up.
Liver transplantation offers an highly effective treatment for HFHC. It is better to operate on patients before severe atherosclerotic changes in the coronary arteries. All patients must undergo a complete cardiac evaluation before surgery.