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Review Article

Sitosterolemia：诊断，代谢和血液异常，心血管疾病和管理

卷 26, 期 37, 2019

页: [6766 - 6775] 页: 10

弟呕挨: 10.2174/0929867325666180705145900

价格: $65

摘要

谷固醇血症是一种不明患病的隐性遗传性代谢疾病，其特征在于血浆植物固醇水平升高。它分别由ABCG5和ABCG8基因中的28和31个变体引起，其特征是易吸收血浆中植物甾醇的毒性水平并易于累积。其临床表现极为不同。主要临床特征是肌腱和皮肤黄瘤，关节炎或关节痛，过早的心血管疾病和动脉粥样硬化。这些特征与家族性高胆固醇血症（FH）共同存在，使得谷固醇血症有可能被误诊为纯合子FH，尤其是在小儿患者中。在这种情况下，特定的基于色谱的实验室方法对于区分谷固醇和胆固醇至关重要。血液学异常（溶血性贫血和大血小板减少症）可能出现在25-35％的患者中，其中通常与主要临床特征相关，如70％的病例。在这种情况下，外周血涂片是必不可少的，并显示出巨大的血小板和口腔细胞。 ABCG5 / ABCG8中只有21个致病性变异与大血小板减少症相关。大多数医生仍然不认识这些血液学异常或将它们与谷固醇血症相关联。患者可能会长期遭受免疫性血小板减少症的误诊，极有可能接受有害疗法或无法从低胆固醇饮食和/或依泽替米贝的黄金标准治疗中受益。该药物可降低血浆植物固醇的水平，引起黄瘤退化，并可减轻血液学异常。最后，为了鉴定遗传缺陷，高通量测序的最新进展，特别是在使用预先指定的基因的靶向测序方面，已被纳入遗传疾病领域的一线研究方法。

关键词: 血小板疾病，谷固醇，大血小板减少症，高通量核苷酸测序，基因检测，高胆固醇血症。

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