1: Arch Dis Child 1995 Nov;73(5):456-8

Liver transplantation for homozygous familial hypercholesterolaemia

Revell SP, Noble-Jamieson G, Johnston P, Rasmussen A, Jamieson N, Barnes ND
Department of Paediatrics, Addenbrookes NHS Trust, Cambridge.

Abstract
Homozygous familial hypercholesterolaemia is a rare inherited condition with an
incidence of approximately one in a million. It is associated with severe
premature atherosclerosis and early death from cardiovascular complications. The
results of liver transplantation reported to date have suggested only partially
effective reduction of the hypercholesterolaemia. Three boys with familial
hypercholesterolaemia, aged 10.0 to 15.1 years, received liver grafts at
Addenbrooke's Hospital. Their untreated fasting lipid concentrations were
grossly raised. All three had angiographic evidence of coronary atheroma and two
had exertional angina. One child had such severe atheroma that coronary artery
bypass surgery was considered necessary before liver transplantation. All three
had straightforward operative and postoperative courses and their lipid
concentrations returned rapidly to normal. One boy developed chronic rejection
requiring retransplantation. Currently all three boys are well, on normal diets,
and with normal liver function. It is concluded that (1) liver transplantation
offers highly effective treatment for this lethal condition, (2) timing the
operation is difficult but it should be undertaken before coronary artery
disease has progressed too far (when combined liver and heart transplantation
may be the only possibility), and (3) in well grown children with no previous
abdominal surgery the immediate risks of liver transplantation are low but
chronic rejection remains a danger