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假性高甘油三酯血症:可能的甘油激酶缺乏症两例。

Pseudohypertriglyceridemia: two cases of probable glycerol kinase deficiency.

机构信息

Atherosclerosis and LDL-Apheresis Center, Kansas University Medical Center, Room B440 Mail Stop 4047, Kansas City, KS 66160, USA.

出版信息

J Clin Lipidol. 2012 Sep-Oct;6(5):469-73. doi: 10.1016/j.jacl.2012.02.001. Epub 2012 Feb 8.

Abstract

The National Cholesterol Educational Program Adult Treatment Panel's third report define borderline-high, high, and very high triglycerides as serum levels of 150-199 mg/dL, 200-499 mg/dL, and ≥500 mg/dL, respectively. Hypertriglyceridemia (HTG) is generally very responsive to both therapeutic lifestyle changes (TLC), and drug therapy, with niacin, omega-3 fatty acids, fibrates, and statins, each reducing levels by ~10-50%. This paper presents two cases of patients who were aggressively treated for significant HTG with little response to therapy. Although most measured triglyceride (TG) values in these patients were markedly elevated, periodic concentrations were reported as normal. When this occurs, the clinician must immediately think of the diagnosis 'pseudohypertriglyceridemia' or as it is more aptly termed 'glycerolemia' secondary to glycerol kinase deficiency (GKD).

摘要

美国国家胆固醇教育计划成人治疗专家组的第三份报告将边缘升高、升高和非常高的甘油三酯定义为血清水平分别为 150-199mg/dL、200-499mg/dL 和≥500mg/dL。高甘油三酯血症(HTG)通常对治疗性生活方式改变(TLC)和药物治疗非常敏感,烟酸、ω-3 脂肪酸、贝特类药物和他汀类药物均可将水平降低约 10-50%。本文介绍了两例患者,他们接受了积极治疗以降低显著升高的 HTG,但对治疗反应不佳。尽管这些患者的大多数测量甘油三酯(TG)值明显升高,但定期报告的浓度却是正常的。当这种情况发生时,临床医生必须立即想到诊断“假性高甘油三酯血症”,或者更恰当地称为“甘油血症”,这是由于甘油激酶缺乏(GKD)引起的。

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