Xu Ming-Jun, Chu Jian-Ping, Fei Wen-Ling, Wang Juan, Zhang Yan-Min, Wang Yi
Department of Pediatric Intensive Medicine, Children's Hospital of Xi'an Jiaotong University, Xi'an, People's Republic of China.
College of Pharmaceutical, Xi'an Medical University, Xi'an, People's Republic of China.
Int Med Case Rep J. 2022 Mar 21;15:97-103. doi: 10.2147/IMCRJ.S345320. eCollection 2022.
Homozygous familial hypercholesterolemia (HoFH) is a rare autosomal recessive genetic disorder. It is difficult to diagnose and treat it at early stage. We present a nine-year-old boy with HoFH from China. At the beginning, he was misdiagnosed as xanthomatosis in the dermatology department of the local hospital, but the disease did not alleviate after three laser ablation operations. Later, blood lipid monitoring, ultrasound of heart and carotid artery were further added in our hospital, and finally the boy was diagnosed with HoFH by genetic testing. A biallelic mutations was observed in the fourth exon of low density lipoprotein receptor (LDLR): c.418G>A (p.E140K). Our patient achieved a relatively satisfactory therapeutic results after a series of lipid-lowering therapies including atorvastatin monotherapy, lipoprotein apheresis and double-filtration plasma pheresis. We found that LDL-C levels obtained 57% reduction from baseline after atorvastatin combined with double-filtration plasma pheresis (DFPP). It was observed that regression of carotid intima-media thickness (cIMT), valve regurgitation and xanthoma occurred after a series of Intensive lipid-lowering therapy.
纯合子家族性高胆固醇血症（HoFH）是一种罕见的常染色体隐性遗传疾病。早期诊断和治疗该病较为困难。我们报告了一名来自中国的9岁HoFH男孩。起初，他在当地医院皮肤科被误诊为黄瘤病，但经过三次激光消融手术后病情并未缓解。后来，我院进一步进行了血脂监测、心脏和颈动脉超声检查，最终通过基因检测确诊该男孩患有HoFH。在低密度脂蛋白受体（LDLR）的第4外显子中观察到双等位基因突变：c.418G>A（p.E140K）。经过包括阿托伐他汀单药治疗、脂蛋白分离置换法和双重滤过血浆置换法在内的一系列降脂治疗后，我们的患者取得了相对满意的治疗效果。我们发现，阿托伐他汀联合双重滤过血浆置换法（DFPP）后，低密度脂蛋白胆固醇（LDL-C）水平较基线降低了57%。经过一系列强化降脂治疗后，观察到颈动脉内膜中层厚度（cIMT）、瓣膜反流和黄瘤有所消退。
