纯合子家族性高胆固醇血症(HoFH)是一种罕见的,危及生命,以低密度脂蛋白胆固醇(LDL-C)水平极高为特征的遗传性疾病。患者患动脉粥样硬化性心血管疾病的风险很高,不良心血管事件,和相关的早期死亡率。肝移植有时用于治疗目的。当前病例系列的目的是评估接受肝移植治疗HoFH的一系列患者的随访情况。
根据欧洲和中东四个单位的当地实践,对临床和/或遗传诊断为HoFH的患者进行了治疗。所有患者均行肝移植。收集基线和长期随访数据,包括LDL-C水平,DNA突变,降脂药物,以及手术和免疫抑制治疗引起的并发症。
9例患者接受了长达22年的随访(平均±SD11.7±11.7年;范围0.5-28年)。其中三名患者因移植手术并发症而死亡(死亡率33%)。在幸存的六名患者中,4例患者需要持续降脂治疗(LLT)以维持LDL-C水平,2例患者显示LDL-C水平升高的迹象,需要治疗.一例(11%)需要两次连续移植才能获得可行的移植物,并且由于移植物失败而正在等待第三次移植。
肝移植不能使大多数HoFH患者达到推荐的LDL-C目标,大多数患者仍然需要移植后LLT。在大多数HoFH患者中,肝移植均未治愈。指南建议,如果当代治疗不可用或不可能,移植是最后的治疗手段。
Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening, inherited condition characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C). Patients are at high risk of atherosclerotic cardiovascular disease, adverse cardiovascular events, and associated early mortality. Liver transplant is sometimes used with curative intent. The objective of the current case series was to evaluate the follow-up of a range of patients who have undergone liver transplant for the treatment of HoFH.
Patients with clinical and/or genetic diagnoses of HoFH were treated according to local practices in four units in Europe and the Middle East. All patients underwent liver transplantation. Baseline and long-term follow-up data were collected, including LDL-C levels, DNA mutations, lipid-lowering medications, and complications due to surgery and immunosuppressive therapy.
Nine patients were included with up to 22 years\' follow-up (mean ± SD 11.7 ± 11.7 years; range 0.5-28 years). Three of the patients died as a result of complications of transplant surgery (mortality rate 33%). Among the surviving six patients, four required continued lipid-lowering therapy (LLT) to maintain LDL-C levels and two patients show signs of increasing LDL-C levels that require management. One case (11%) required two consecutive transplants to achieve a viable graft and is awaiting a third transplant because of graft failure.
Liver transplant did not enable attainment of recommended LDL-C targets in most patients with HoFH, and the majority of patients still required post-transplant LLT. Liver transplant was not curative in most of the patients with HoFH followed. Guidelines suggest that transplant is a treatment of last resort if contemporary treatments are not available or possible.