Department of Medicine, College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman.
Angiology. 2013 May;64(4):287-92. doi: 10.1177/0003319712465171. Epub 2012 Nov 15.
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder. Mutations have been found in at least 3 genes: the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9). We report the first case of FH in an Omani family due to a novel mutation in the LDLR gene. A 9-year-old female was referred to our lipid clinic with eye xanthelasmata and thickening of both Achilles tendons. Evaluation of the lipid profile showed the off treatment total cholesterol of 896 mg/dL (23.2 mmol/L), low-density lipoprotein cholesterol (LDL-C) of 853 mg/dL (22.1 mmol/L), APOB of 4.5 g/L, triglyceride of 71 mg/dL (0.8 mmol/L), and high-density lipoprotein cholesterol of 0.74 mmol/L. Genetic analysis of the LDLR gene showed a homozygous frameshift deletion mutation (272delG) at exon 3. The female patient was treated with a combination of rosuvastatin/ezetimibe and LDL apheresis.
家族性高胆固醇血症 (FH) 是一种常染色体显性遗传疾病。至少已经发现了 3 个基因的突变：低密度脂蛋白受体 (LDLR)、载脂蛋白 B (APOB) 和前蛋白转化酶枯草溶菌素/柯萨奇蛋白酶 9 (PCSK9)。我们报告了首例由于 LDLR 基因突变导致的阿曼家族性高胆固醇血症病例。一名 9 岁女性因眼黄瘤和双侧跟腱增厚而被转介至我们的血脂诊所。血脂谱评估显示，未经治疗的总胆固醇为 896mg/dL（23.2mmol/L），低密度脂蛋白胆固醇（LDL-C）为 853mg/dL（22.1mmol/L），载脂蛋白 B 为 4.5g/L，甘油三酯为 71mg/dL（0.8mmol/L），高密度脂蛋白胆固醇为 0.74mmol/L。LDLR 基因突变分析显示第 3 外显子存在纯合移码缺失突变（272delG）。该女性患者接受了瑞舒伐他汀/依折麦布联合 LDL 血浆吸附治疗。
