Development and the application of a comprehensive cause-analysis system for hypertriglyceridemia that is a risk factor for coronary heart disease

高甘油三酯血症是冠心病的危险因素之一，它是由脂蛋白脂肪酶（LPL）异常引起的，主要与血液循环中甘油三酯的分解代谢有关。事实上，我们发现S193R/I194T的复合杂合LPL缺乏是导致LPL活性和LPL蛋白水平低的受试者高甘油三酯血症的原因。然而，有一例LPL基因没有异常，尽管LPL活性和蛋白水平都很低。在这个病例中，我们在患者的血浆中发现了LPL酶的抑制剂。通过测定血浆对LPL活性的抑制作用和Western blot法测定与LPL蛋白结合的免疫球蛋白类型相结合的方法来检测该抑制剂。测定血浆对功能性LPL活性的抑制作用是检测LPL酶抑制剂的必要条件。

Hypertriglyceridemia is one of the risk factors for coronary heart disease, and it is caused by an abnormality of lipoprotein lipase(LPL) that is mainly associated with catabolism of triglyceride in the circulation. In fact, we found a compound heterozygous LPL deficiency of S193R/I194T as a cause of hypertriglyceridemia in a subject with the low level of LPL activity and LPL protein. However, there was a case whose LPL gene had no abnormality in spite of the low level of LPL both activity and protein. In this case, we found an inhibitor of LPL enzyme in the patient's plasma. Detection of the inhibitor was done by a combination of the method of measuring inhibitory effect of the plasma on LPL activity and determining a typeof the immunoglobulin binding to LPL protein by Western blot method. Measurement of the inhibition of the functional LPL activity by plasma was essential for the detection of inhibitors of LPL enzyme.