Objective: To investigate the clinical effect and prognosis of liver transplantation for familial hypercholesterolemia(FH).

Method: A retrospective analysis was performed on the preoperative characteristics, operative conditions and postoperative follow-up of 5 children who received liver transplantation for familial hypercholesterolemia admitted to our center from December 2014 to July 2021.

Result: The patients’ primary clinical manifestation was a progressive increase of palpable yellow masses in buttocks and joints and decreased activity tolerance, accompanied by increased blood cholesterol and low-density lipoprotein. Case 1 had multiple coronary artery stenosis and intra-arterial lipid plaque formation. Case 2 had severe stenosis of the coeliac trunk, multiple stenoses of neck vessels, and repeated chest tightness and precardiac pain after exercise. Case 3 had carotid intima-media thickening and right subclavian artery plaque formation. Case 4 showed uneven thickening of intima-media membranes of bilateral external iliac arteries and bilateral carotid arteries. Case 5 showed slight thickening of intima-media membrane at the beginning of bilateral carotid arteries and right subclavian artery, and slight stenosis of descending aorta. All patients were confirmed to have FH by genetic test and biochemical blood test. Case 2 gene test was compound heterozygous LDLR mutation (exon6; c.920A>G); case 3 gene test was compound heterozygous LDLR mutation (①exon4; c.G665T; ②exon14; c.C2054T); case 4 was homozygous LDLR mutation (exon7; c.G952T>C); case 5 was a composite heterozygous LDLR mutation (①exon5; c.727T>A; ②exon9; c.1187-10G>A). The age of the first onset were 6 years, 4 years, 2 years, 1 year, and 1 year, respectively. All 5 children were male, with the preoperative blood cholesterol level of 15.33±4.67mmol/L and the blood LDL level of 10.69±2.80mmol/L. Preoperative low-fat diet and lipid-lowering drugs, including rosuvastatin, ezetimibe, probucco and Xuzhikang, had poor efficacy. They received liver transplantation at 149, 124, 92, 45 and 72 months, and all donor livers were from cadavers. On the first day after liver transplantation, their blood cholesterol level was 5.56±1.88mmol/L and their LDL level was 4.06±1.75mmol/L. The liver function of 5 patients recovered gradually, blood cholesterol was in the normal range and normal diet was resumed. The patients have been followed up for 80.7, 24.1, 11.3, 9.6 and 6 months. All the children have survived healthy. The cardiovascular diseases of the 5 children have not shown significant progress in postoperative follow-up so far. The clinical manifestations such as suffocating, squatting and precardiac discomfort were significantly reduced after operation.

Conclusion: Liver transplantation is a means to cure FH. It should be performed before the occurrence of cardiovascular diseases in children, and satisfactory quality of life can be achieved after transplantation.