College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, 11426, Saudi Arabia.
Department of Cardiology Izmir, School of Medicine, Ege University, Bornova, Turkey.
Adv Ther. 2022 Jun;39(6):3042-3057. doi: 10.1007/s12325-022-02131-3. Epub 2022 Apr 26.
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.
纯合子家族性高胆固醇血症（HoFH）是一种罕见的、危及生命的遗传性疾病，其特征是低密度脂蛋白胆固醇（LDL-C）水平极高。患者发生动脉粥样硬化性心血管疾病、不良心血管事件及相关早期死亡率的风险较高。有时会进行肝移植以达到治疗目的。本病例系列研究的目的是评估在欧洲和中东的四个单位中接受肝移植治疗 HoFH 的一系列患者的随访情况。
根据当地实践，对具有 HoFH 的临床和/或基因诊断的患者进行治疗。所有患者均接受肝移植。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相关的并发症。
纳入了 9 名患者，随访时间最长达 22 年（平均±标准差 11.7±11.7 年；范围 0.5-28 年）。3 名患者因移植手术并发症而死亡（死亡率 33%）。在存活的 6 名患者中，有 4 名需要继续降脂治疗（LLT）以维持 LDL-C 水平，有 2 名患者出现 LDL-C 水平升高的迹象，需要进行管理。1 例（11%）需要连续两次移植才能获得可存活的移植物，由于移植物失功正在等待第三次移植。
肝移植并未使大多数 HoFH 患者达到推荐的 LDL-C 目标，且大多数患者仍需要移植后的 LLT。在大多数接受随访的 HoFH 患者中，肝移植并非治愈方法。指南建议，如果现代治疗方法不可用或不可行，肝移植应作为最后的治疗手段。
