Tong Xuan,Tang Rui,Li Long,et al.Clinical insights on split liver transplantation for familial hypercholesterolemia[J].Journal of Clinical Pediatric Surgery,2025,(03):226-230.[doi:10.3760/cma.j.cn101785-202402003-005]
劈离式肝移植治疗家族性高胆固醇血症
- Title:
- Clinical insights on split liver transplantation for familial hypercholesterolemia
- 摘要:
- 目的 探讨劈离式肝移植治疗家族性高胆固醇血症的疗效与预后。方法 本研究为单中心回顾性研究,以2020年9月至2022年3月北京清华长庚医院收治的5例诊断为家族性高胆固醇血症并行劈离式肝移植治疗的患儿为研究对象,其中男性1例、女性4例,中位年龄11岁(5~15岁)。收集其临床与随访资料,包括术前、术后1个月及末次随访时的低密度脂蛋白胆固醇(low-density lipoprotein cholesterol,LDL-C)、总胆固醇(total cholesterol,TC)以及移植术后相关并发症情况和生存情况。结果 5例均获得随访,中位随访时间31个月(19~35个月)。术前LDL-C (16.31±2.24) mmol/L,术后1个月LDL-C降至(2.24±0.63) mmol/L,与术前LDL-C差异有统计学意义(P<0.001);术后末次随访时LDL-C (2.07±0.84) mmol/L,与术后1个月LDL-C差异无统计学意义(P=0.893)。术前TC为(18.13±2.27) mmol/L,术后1个月降至(3.79±0.35) mmol/L,与术前TC差异有统计学意义(P<0.001);术后末次随访时TC (3.62±0.92) mmol/L,与术后1个月差异无统计学意义(P=0.749)。5例术后均无需接受降脂治疗,无一例发生心血管并发症。结论 劈离式肝移植可有效治疗家族性高胆固醇血症。
- Abstract:
- Objective To explore the efficacy and prognosis of split liver transplantation (SLT) for familial hypercholesterolemia (FH).Methods A single-center retrospective study was conducted for 5 FH children undergoing SLT from September 2020 to March 2022.There were 4 girls and 1 boy with a median age of 11(5-15) year.Clinical and follow-up data were collected,including low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) at pre-operation,Month 1 post-operation and the last follow-up,as well as the occurrence and survival of transplant-related postoperative complications.Results All of them were followed up completely with a median follow-up period of 31(19-35) month.LDL-C (16.31±2.24) mmol/L at pre-operation declined to (2.24±0.63) mmol/L at Month 1 post-operation.There was statistical significance (P<0.001).LDL-C was (2.07±0.84) mmol/L at the last follow-up showed no significant difference with that at Month 1 post-operation (P=0.893).Preoperative TC (18.13±2.27) mmol/L dropped to (3.79±0.35) mmol/L at Month 1 post-operation and the difference was statistically significant (P<0.001).No significant difference existed in TC (3.62±0.92) mmol/L at the last postoperative follow-up as compared with Month 1 post-operation (P=0.749).Postoperative lipid-lowering therapy was not required and there were no cardiovascular complications.Conclusions SLT may effectively treat familial hypercholesterolemia.
参考文献/References:
[1] Watts GF,Gidding SS,Mata P,et al.Familial hypercholesterolaemia:evolving knowledge for designing adaptive models of care[J].Nat Rev Cardiol,2020,17(6):360-377.DOI:10.1038/s41569-019-0325-8.
[2] Cuchel M,Bruckert E,Ginsberg HN,et al.Homozygous familial hypercholesterolaemia:new insights and guidance for clinicians to improve detection and clinical management.A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society[J].Eur Heart J,2014,35(32):2146-2157.DOI:10.1093/eurheartj/ehu274.
[3] Li S,Zhang Y,Zhu CG,et al.Identification of familial hypercholesterolemia in patients with myocardial infarction:a Chinese cohort study[J].J Clin Lipidol,2016,10(6):1344-1352.DOI:10.1016/j.jacl.2016.08.013.
[4] Shi ZM,Yuan BJ,Zhao D,et al.Familial hypercholesterolemia in China:prevalence and evidence of underdetection and undertreatment in a community population[J].Int J Cardiol,2014,174(3):834-836.DOI:10.1016/j.ijcard.2014.04.165.
[5] Goldstein JL,Hobbs HH,Brown MS.Familial hypercholesterolemia[M]//Scriver CR,Beaudet AL,Sly WS,et al.The Metabolic and Molecular Bases of Inherited Disease.8th ed.New York:McGraw-Hill Information Services Company,2001:2863-2913.
[6] Khera AV,Won HH,Peloso GM,et al.Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia[J].J Am CollCardiol,2016,67(22):2578-2589.DOI:10.1016/j.jacc.2016.03.520.
[7] 中华医学会心血管病学分会动脉粥样硬化及冠心病学组,中华心血管病杂志编辑委员会.家族性高胆固醇血症筛查与诊治中国专家共识[J].中华心血管病杂志,2018,46(2):99-103.DOI:10.3760/cma.j.issn.0253-3758.2018.02.006. Atherosclerosis and Coronary Heart Disease Group of the Chinese Society of Cardiology of Chinese Medical Association,Editorial Board of Chinese Journal of Cardiology.Chinese Expert Consensus on Screening,diagnosis and treatment of familial hypercholesterolemia[J].Chin J Cardiol,2018,46(2):99-103.DOI:10.3760/cma.j.issn.0253-3758.2018.02.006.
[8] Mach F,Baigent C,Catapano AL,et al.2019 ESC/EAS guidelines for the management of dyslipidaemias:lipid modification to reduce cardiovascular risk:The Task Force for the Management of Dyslipidaemias of the European Society of Cardiology (ESC) and European Atherosclerosis Society (EAS)[J].Eur Heart J,2020,41(1):111-188.DOI:10.1093/eurheartj/ehz455.
[9] Bilheimer DW,Goldstein JL,Grundy SM,et al.Liver transplantation to provide low-density-lipoprotein receptors and lower plasma cholesterol in a child with homozygous familial hypercholesterolemia[J].N Engl J Med,1984,311(26):1658-1664.DOI:10.1056/NEJM198412273112603.
[10] Al Dubayee M,Kayikcioglu M,van Lennep JR,et al.Is liver transplant curative in homozygous familial hypercholesterolemia?a review of nine global cases[J].AdvTher,2022,39(6):3042-3057.DOI:10.1007/s12325-022-02131-3.
[11] 陈沛沛,封思琴,田庄,等.同种原位肝移植对家族性高胆固醇血症纯合型或复合杂合型患者血清胆固醇及生长发育的影响[J].中华心血管病杂志,2023,51(3):270-277.DOI:10.3760/cma.j.cn112148-20221231-01027. Chen PP,Feng SQ,Tian Z,et al.Impact of orthotopic liver transplantation on serum lipid level and growing development in patients with homozygous or compound heterozygous familial hypercholesterolemia[J].Chin J Cardiol,2023,51(3):270-277.DOI:10.3760/cma.j.cn112148-20221231-01027.
[12] Qiu HR,Zhang L,Zhu ZJ.Perioperative management and clinical outcomes of liver transplantation for children with homozygous familial hypercholesterolemia[J].Medicina (Kaunas),2022,58(10):1430.DOI:10.3390/medicina58101430.
[13] Palacio CH,Harring TR,Nguyen NTT,et al.Homozygous familial hypercholesterolemia:case series and review of the literature[J].Case Rep Transplant,2011,2011:154908.DOI:10.1155/2011/154908.
[14] Kü?ükkartallar T,Yankol Y,Kanmaz T,et al.Liver transplantation as a treatment option for three siblings with homozygous familial hypercholesterolemia[J].Pediatr Transplant,2011,15(3):281-284.DOI:10.1111/j.1399-3046.2010.01469.x.
[15] Cephus CE,Qureshi AM,Sexson-Tejtel SK,et al.Liver transplantation for HoFH in children:single center experience[J].Congenit Heart Dis,2015,10(6):520-528.DOI:10.1111/chd.12301.
[16] Mansoorian M,Kazemi K,Nikeghbalian S,et al.Liver transplantation as a definitive treatment for familial hypercholesterolemia:a series of 36 cases[J].Pediatr Transplant,2015,19(6):605-611.DOI:10.1111/petr.12562.
[17] MlinaricM,BratanicN,DragosV,et al.Case report:liver transplantation in homozygous familial hypercholesterolemia (HoFH)-long-term follow-up of a patient and literature review[J].Front Pediatr,2020,8:567895.DOI:10.3389/fped.2020.567895.
[18] Starzl TE,Bilheimer DW,Bahnson HT,et al.Heart-liver transplantation in a patient with familial hypercholesterolaemia[J].Lancet,1984,323(8391):1382-1383.DOI:10.1016/S0140-6736(84)91876-2.
[19] Sokal EM,Ulla L,Harvengt C,et al.Liver transplantation for familial hypercholesterolemia before the onset of cardiovascular complications[J].Transplantation,1993,55(2):432-433.DOI:10.1097/00007890-199302000-00037.
[20] Kasahara M,Hong JC,Dhawan A.Evaluation of living donors for hereditary liver disease (siblings,heterozygotes)[J].J Hepatol,2023,78(6):1147-1156.DOI:10.1016/j.jhep.2022.10.013.
[21] Kawagishi N,Satoh K,Enomoto Y,et al.Two cases in one family of living donor liver transplantation for homozygous familial hypercholesterolemia[J].J Gastroenterol,2006,41(5):501-502.DOI:10.1007/s00535-006-1765-6.
[22] Ishigaki Y,Kawagishi N,Hasegawa Y,et al.Liver transplantation for homozygous familial hypercholesterolemia[J].J AtherosclerThromb,2019,26(2):121-127.DOI:10.5551/jat.RV17029.
[23] GulsoyKirnap N,Kirnap M,Bascil Tutuncu N,et al.The curative treatment of familial hypercholesterolemia:liver transplantation[J].Clin Transplant,2019,33(12):e13730.DOI:10.1111/ctr.13730.
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备注/Memo
收稿日期:2024-2-4。
通讯作者:卢倩,Email:lqa01971@btch.edu.cn