Kakaei F, Nikeghbalian S, Kazemi K, Salahi H, Bahador A, Dehghani S M, Dehghani M, Nejatollahi S M, Shamsaeefar A, Khosravi M B, Malek-Hosseini S A
Shiraz Transplant Center, Namazi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
Transplant Proc. 2009 Sep;41(7):2939-41. doi: 10.1016/j.transproceed.2009.07.028.
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.
纯合子家族性高胆固醇血症（HFHC）是一种罕见的遗传性疾病，发病率为百万分之一。它与严重的早发性动脉粥样硬化和心血管并发症导致的早期死亡有关。编码低密度脂蛋白（LDL）细胞受体合成的基因突变是这种代谢紊乱的原因。目前，这种疾病唯一有效的治疗方法是肝移植，单独或与药物联合使用可使血浆胆固醇水平正常化。作者报告了两例HFHC患者肝移植的结果。第一例，一名15岁男孩接受了来自已故供体的全肝移植，第二例，一名11岁男孩接受了来自他姨妈的左肝叶移植。他们术前的空腹血脂浓度大幅升高。年龄较大的男孩患有严重的动脉粥样硬化性心脏病，在移植前5个月接受了冠状动脉搭桥手术。两人术前血浆胆固醇水平均高于750mg/dL，甲状腺和肝功能检查正常。术后，患者接受甲基强的松龙脉冲治疗，随后口服强的松龙、霉酚酸酯和他克莫司进行免疫抑制。他们的住院时间分别为24天和13天。第一例患者术后第二天因出血需要再次探查。术后第一周血脂浓度迅速恢复到正常范围，在随访的前6个月内一直保持在这个范围内。肝移植为HFHC提供了一种非常有效的治疗方法。最好在冠状动脉出现严重动脉粥样硬化改变之前对患者进行手术。所有患者在手术前必须进行全面的心脏评估。
