Liver transplantation for Homozygous Familial hypercholesterolemia: A retrospective analyses from Chinese experience

Abstract Background Homozygous familial hypercholesterolaemia (HoFH) increase risk of premature cardiovascular events and cardiac death. In severe cases of HoFH, clinical signs and symptoms cannot be controlled well by non-surgical treatments, liver transplantation (LT) currently represents the viable option.Method To assess the clinical efficacy, prognosis and optimal timing of LT for HoFH, a retrospective analysis was conducted on the preoperative, surgical conditions and postoperative follow-up of children who received a LT for HoFH at the Beijing Friendship Hospital over the period from December 2014 to August 2022.Results Xanthoma and decreased activity tolerance were the primary clinical manifestations in the 7 HoFH children initially assessed (one child died suddenly prior to surgery due to cardiac arrest). Accompanying these symptoms were increased blood total cholesterol(TC) and low density lipoprotein (LDL) levels, along with severe cardiovascular diseases. HoFH was confirmed in all cases by genetic and biochemical assays. Initial treatments administered to these patients consisted of low-fat diets and lipid-lowering drugs with poor outcomes. Accordingly, all 6 patients received orthotopic liver transplantations(OLT), with the result that significant postoperative reductions were observed in levels of TC and LDL. The median follow-up of these six cases was 37.41 months (range: 19.40 to 94.10 months). Regular postoperative follow-ups revealed that all children survived, were in good health and showed significant improvements in their clinical symptoms.Conclusion LT can serve as an effective means for treatment of HoFH in children. This LT should be performed prior to the onset of cardiovascular diseases to achieve maximal effects in improving the quality of life for these children.