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首页> 外文期刊>Current opinion in lipidology >Hypobetalipoproteinemia and abetalipoproteinemia
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Hypobetalipoproteinemia and abetalipoproteinemia

机译：低血脂蛋白血症和无血脂蛋白血症

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摘要

PURPOSE OF REVIEW: Several mutations in the apoB, proprotein convertase subtilisin/kexin type 9 (PCSK9), and MTP genes result in low or absent levels of apoB and LDL-cholesterol in plasma, which cause familial hypobetalipoproteinemia and abetalipoproteinemia. Mutations in the ANGPTL3 gene cause familial combined hypolipidemia. Clinical manifestations range from none to severe, debilitating, and life-threatening disorders. This review summarizes recent genetic, metabolic, and clinical findings and presents an update on management strategies. RECENT FINDINGS: Cases of cirrhosis and hepatocellular carcinoma have now been identified in heterozygous familial hypobetalipoproteinemia probably because of decreased triglyceride transport capacity from the liver. ANGPTL3 mutations cause low levels of LDL-cholesterol and low HDL-cholesterol in compound heterozygotes and homozygous individuals, decrease reverse cholesterol transport, and lower glucose levels. The effect on atherosclerosis is unknown; however, severe fatty liver has been identified. Loss-of-function mutations in PCSK9 cause familial hypobetalipoproteinemia, which appears to lower risk for coronary artery disease and has no adverse sequelae. Phase III clinical trials are now underway examining the effect of PCSK9 inhibitors on cardiovascular events in combination with statin drugs. SUMMARY: Mutations causing low LDL-cholesterol and apoB have provided insight into lipid metabolism, disease associations, and the basis for drug development to lower LDL-cholesterol in disorders causing high levels of cholesterol. Early diagnosis and treatment are necessary to prevent adverse sequelae from familial hypobetalipoproteinemia and abetalipoproteinemia.
机译：审查目的：apoB，前蛋白转化酶枯草杆菌蛋白酶/ kexin 9型（PCSK9）和MTP基因中的几个突变导致血浆中apoB和LDL-胆固醇水平低或不存在，从而导致家族性低血脂蛋白血症和abeta脂蛋白血症。 ANGPTL3基因突变导致家族性合并低血脂症。临床表现从无到严重，使人衰弱和危及生命的疾病。这篇综述总结了最近的遗传，代谢和临床发现，并介绍了管理策略的最新进展。最近的发现：杂合性家族性低血脂蛋白血症已被鉴定为肝硬化和肝细胞癌的病例，可能是由于甘油三酸酯从肝脏的转运能力降低。 ANGPTL3突变在复合杂合子和纯合子个体中导致低水平的LDL-胆固醇和低水平的HDL-胆固醇，降低胆固醇逆向转运，并降低葡萄糖水平。对动脉粥样硬化的作用尚不清楚;但是，已经确定了严重的脂肪肝。 PCSK9的功能丧失突变引起家族性低脂蛋白血症，这似乎降低了冠心病的风险，并且没有不良后遗症。目前正在进行III期临床试验，与他汀类药物联合检查PCSK9抑制剂对心血管事件的影响。摘要：导致低LDL-胆固醇和apoB的突变为深入了解脂质代谢，疾病关联以及降低胆固醇水平的疾病中降低LDL-胆固醇的药物开发奠定了基础。早期诊断和治疗对于防止家族性低脂蛋白血症和无脂蛋白血症引起的后遗症是必要的。

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