Hypocholesterolemia
Hypocholesterolemia
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DOI：
10.2174/157016111794519354
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发表时间：
2011-03-01
影响因子：
4.5
通讯作者：
Liberopoulos, Evangelos N.
中科院分区：
文献类型：
--
作者：
Moutzouri, Elisavet;Elisaf, Moses;Liberopoulos, Evangelos N.
低胆固醇血症的定义是总胆固醇 (TC) 和低密度脂蛋白胆固醇 (LDL-C) 水平低于根据年龄、性别和种族调整后的普通人群的第 5 个百分位。低胆固醇血症可能归因于遗传性疾病或一些继发原因。遗传性低胆固醇血症由一组罕见疾病组成。研究最多的是家族性低β脂蛋白血症（FHBL）和无β脂蛋白血症（ABL）。临床诊断取决于血脂水平和排除继发原因后的遗传模式。原发性低β脂蛋白血症患者可能表现出影响多个器官的多种症状和体征（脂肪泻、神经和眼科症状、非酒精性脂肪肝）或无症状。了解低胆固醇血症及其潜在的分子基础至关重要，因为这可能为高胆固醇血症的治疗和治疗提供新的见解。 心血管疾病。
Hypocholesterolemia is defined as total cholesterol (TC) and low density lipoprotein cholesterol (LDL-C) levels below the 5(th) percentile of the general population adjusted for age, gender and race. Hypocholesterolemia may be attributed to inherited disorders or several secondary causes. Inherited forms of hypocholesterolemia consist of a group of rare diseases. The best studied are familial hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL). Clinical diagnosis rests on lipid levels and the pattern of inheritance after secondary causes are excluded. Patients with primary hypobetalipoproteinemias may manifest a variety of symptoms and signs affecting several organs (steatorrhea, neurological and ophthalmological symptoms, non-alcoholic fatty liver disease) or be asymptomatic.Understanding hypocholesterolemia and the underlying molecular basis is of crucial importance since this may provide new insights in the treatment of hypercholesterolemia and cardiovascular disease.