A case of sitosterolemia misdiagnosed as familial hypercholesterolemia: A 4-year follow-up
A case of sitosterolemia misdiagnosed as familial hypercholesterolemia: A 4-year follow-up
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谷甾醇血症误诊为家族性高胆固醇血症一例：4年随访
DOI：
10.1016/j.jacl.2017.10.008
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发表时间：
2018-02-01
影响因子：
4.4
通讯作者：
Wang, Lu-Ya
中科院分区：
文献类型：
--
作者：
Wang, Wei;Jiang, Long;Wang, Lu-Ya
家族性高胆固醇血症（FH）是一种常见的遗传性疾病，表现为低密度脂蛋白胆固醇（LDL-C）水平显著升高、皮肤或肌腱黄瘤、角膜弓和早发冠心病（CHD）。全世界杂合子FH的患病率接近1/300，纯合子FH（HoFH）的患病率为1/160，000 - 1/300，000。荷兰脂质临床网络诊断（DLCN）标准是诊断FH患者最常用的推荐标准。然而，另一种与FH具有相似临床表型的疾病必须与FH相鉴别。这种疾病是一种罕见的常染色体隐性遗传病，谷甾醇血症，其发病率约为1/5百万。我们报告了一个16个月大的儿童，怀疑HoFH和LDL-C水平从14.69 mmol/L降低到3.24 mmol/L饮食控制后，没有他汀类药物治疗。采用气相色谱法检测植物甾醇水平，并结合基因芯片进行基因检测，以达到谷甾醇血症的确诊。(C)2017年全国脂质协会。All rights reserved.
Familial hypercholesterolemia (FH) is a common inherited disease that exhibits significantly increased levels of low-density lipoprotein cholesterol (LDL-C), skin or tendon xanthomas, corneal arcus and premature coronary heart disease (CHD). The prevalence of heterozygous FH is nearly 1/300 worldwide, and the prevalence of homozygous FH (HoFH) is 1/160,000 - 1/300,000. The Dutch Lipid Clinic Network diagnostic (DLCN) criteria is the most commonly recommended criteria for diagnosing FH patients. However, another disease with a similar clinical phenotype to FH must be differentiated from FH. This disease is a rare autosomal recessive disorder, sitosterolemia, and its incidence rate is approximately 1/5 million. We report a 16-month-old child with suspected HoFH and LDL-C levels that were reduced from 14.69 mmol/L to 3.24 mmol/L after dietary control without statin therapy. Gas chromatography detection of plant sterol levels and targeted exon sequencing chips for genetic testing were used to reach confirmed the diagnosis of sitosterolemia. (C) 2017 National Lipid Association. All rights reserved.