Backes James M, Dayspring Thomas D, Hoefner Daniel M, Moriarty Patrick M
Department of Pharmacy Practice, University of Kansas School of Pharmacy, Kansas City, Kansas, USA.
Foundation for Health Improvement and Technology, Richmond, Virginia, USA.
BMJ Case Rep. 2015 Oct 14;2015:bcr2015210788. doi: 10.1136/bcr-2015-210788.
A 52-year-old man with a longstanding history of hypertriglyceridaemia (approximately 7 mmol/L (600 mg/dL)), unresponsive to treatment, presented to a lipid-specialty clinic. Additional triglyceride-lowering therapies were added with no effect. It was then noted that despite the apparent hypertriglyceridaemia, his serum sample was clear. A 'glycerol blank' was then requested from an advanced lipid laboratory, which reported a triglyceride value of 0.7 mmol/L (62 mg/dL). These findings suggest isolated asymptomatic glycerol kinase deficiency (GKD) or 'pseudohypertriglyceridaemia'. The falsely elevated triglyceride values in such individuals are a result of excess serum glycerol and clinical laboratories measuring glycerol to report triglyceride concentrations. After discontinuation or modification of the patient's primary triglyceride-lowering agents, the lipid panels and triglyceride values remained comparable to previous readings. Recognition of asymptomatic GKD is important to prevent unnecessary treatment and overestimated cardiovascular risk.
一名52岁男性，有长期高甘油三酯血症病史（约7 mmol/L（600 mg/dL）），治疗无效，前往脂质专科门诊就诊。添加了其他降甘油三酯疗法但无效。随后注意到，尽管明显存在高甘油三酯血症，但他的血清样本是澄清的。于是向一家高级脂质实验室索要了一份“甘油空白”样本，该实验室报告甘油三酯值为0.7 mmol/L（62 mg/dL）。这些发现提示孤立性无症状甘油激酶缺乏症（GKD）或“假性高甘油三酯血症”。此类个体中甘油三酯值假性升高是血清甘油过量以及临床实验室测量甘油以报告甘油三酯浓度所致。停用或调整患者的主要降甘油三酯药物后，血脂检测结果和甘油三酯值仍与之前读数相当。认识到无症状GKD对于防止不必要的治疗和高估心血管风险很重要。
