Department of Medicine, Western University, London, ON, Canada.
Irving Institute for Clinical and Translational Research, Columbia University, New York, NY, USA.
Lancet Diabetes Endocrinol. 2014 Aug;2(8):655-66. doi: 10.1016/S2213-8587(13)70191-8. Epub 2013 Dec 23.
Plasma triglyceride concentration is a biomarker for circulating triglyceride-rich lipoproteins and their metabolic remnants. Common mild-to-moderate hypertriglyceridaemia is typically multigenic, and results from the cumulative burden of common and rare variants in more than 30 genes, as quantified by genetic risk scores. Rare autosomal recessive monogenic hypertriglyceridaemia can result from large-effect mutations in six different genes. Hypertriglyceridaemia is exacerbated by non-genetic factors. On the basis of recent genetic data, we redefine the disorder into two states: severe (triglyceride concentration >10 mmol/L), which is more likely to have a monogenic cause; and mild-to-moderate (triglyceride concentration 2-10 mmol/L). Because of clustering of susceptibility alleles and secondary factors in families, biochemical screening and counselling for family members is essential, but routine genetic testing is not warranted. Treatment includes management of lifestyle and secondary factors, and pharmacotherapy. In severe hypertriglyceridaemia, intervention is indicated because of pancreatitis risk; in mild-to-moderate hypertriglyceridaemia, intervention can be indicated to prevent cardiovascular disease, dependent on triglyceride concentration, concomitant lipoprotein disturbances, and overall cardiovascular risk.
血浆甘油三酯浓度是循环甘油三酯丰富的脂蛋白及其代谢残基的生物标志物。常见的轻度至中度高甘油三酯血症通常是多基因的,是由 30 多个基因中常见和罕见变异的累积负担引起的,这可以通过遗传风险评分来衡量。罕见的常染色体隐性单基因高甘油三酯血症可能是由六种不同基因中的大效应突变引起的。非遗传因素会使高甘油三酯血症恶化。基于最近的遗传数据,我们将该疾病重新定义为两种状态:严重(甘油三酯浓度>10mmol/L),更有可能是由单基因引起的;和轻度至中度(甘油三酯浓度 2-10mmol/L)。由于易感等位基因和家族中的次要因素的聚类,对家庭成员进行生化筛查和咨询是必不可少的,但常规基因检测是没有必要的。治疗包括生活方式和次要因素的管理,以及药物治疗。在严重的高甘油三酯血症中,由于胰腺炎的风险,需要进行干预;在轻度至中度高甘油三酯血症中,可根据甘油三酯浓度、伴发的脂蛋白异常和总体心血管风险,决定是否进行干预以预防心血管疾病。
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