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摘要: 纯合子家族性高胆固醇血症(HoFH)是一种严重的常染色体遗传代谢性疾病，未经治疗干预的患者常因极高水平低密度脂蛋白胆固醇(LDL-C)导致早发动脉粥样硬化性心血管疾病(ASCVD)，往往在30岁前死亡。本团队报道1例复合杂合突变的HoFH患儿，常规饮食控制加降脂药物治疗效果不佳，血脂净化治疗虽然有效，但难以长期维持应用。之后进行同种原位肝移植并进行了2年的随访观察，患儿LDL-C水平长期维持在正常水平，生长发育良好。本病例的报道希望能够提高临床医师对HoFH疾病诊断和综合治疗策略的了解。
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关键词:
- 纯合子家族性高胆固醇血症 /
- 肝移植术 /
- 低密度脂蛋白胆固醇
Abstract: Homozygous familial hypercholesterolemia (HoFH) is a rare and serious autosomal genetic metabolic disease. Patients without intervention often die younger than 30 years old from early atherosclerotic cardiovascular disease (ASCVD)incurred by extremely high levels of low-density lipoprotein cholesterol (LDL-C). We present a case of HoFH, a child with compound heterozygous mutation in this study. The effect of conventional lipid-lowering therapy through diet control and lipid-lowering drugs was unsatisfactory. The blood-lipid purification proves effective but has poor compliance and difficult to maintain for a longer time. The patient received orthotopic liver transplantation and had been followed for 2 years, with the patient shows normal LDL-C, well growth and development. We hope the case will provide the clinician with better understanding of the diagnosis and treatment of the rare disease of HoFH. -
图 1 患儿口服降脂药物及血清胆固醇水平变化
Figure 1. Changes of oral lipid-lowering drugs and serum cholesterol level in this patient
图 2 患者家系图谱
□为男性正常者；○为女性正常者，为中等水平高脂血症，■为具有极高水平高脂血症；/为已去世；↗为先证者；？为临床症状不明
Figure 2. The pedigree of the patient
图 3 患儿多发皮肤黄色瘤
患儿臀部、后足跟、手指背侧及膝关节处均可见到皮肤黄色瘤(红色箭头所示)
Figure 3. The multiple skin xanthomas in the patient
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