Journal
CLINICA CHIMICA ACTA
Volume 521, Issue -, Pages 85-89Publisher
ELSEVIER
DOI: 10.1016/j.cca.2021.07.003
Keywords
Lipoprotein lipase deficiency; Severe hypertriglyceridemia; HDL-cholesterol
Categories
Funding
- Ministry of Education, Culture, Sports, Science and Technology [18K07484]
- Grants-in-Aid for Scientific Research [18K07484] Funding Source: KAKEN
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The study found that serum HDL-C is an extremely useful marker for discriminating LPL deficiency from SHTG in the Japanese population, with high sensitivity and specificity, which can serve as an important indicator of the type of disease in patients.
Backgrounds and aim: Lipoprotein lipase (LPL) deficiency is a genetic disorder with a defective gene for lipoprotein lipase, leading to very high triglycerides. In the daily practice it is much more common to come across severely hypertriglyceridemia without homozygous or compound heterozygous LPL deficiency (SHTG). Methods: We investigated on how to screen homozygous or compound heterozygous LPL deficiency using lipid parameters by meta-analyzing past 20 subjects on this genetic disease reported by Japanese investigators. As a comparison with LPL deficiency, 21 subjects with SHTG from recent two studies were included in this study. Results: Serum HDL-C levels were significantly lower in LPL deficiency than in SHTG (0.38 +/- 0.13 vs 0.94 +/- 0.28 mmol/L (mean +/- SD), p < 0.001), whereas other serum lipids did not differ between the two groups. The ROC curve +/- standard error for serum HDL-C for discriminating the two groups was 0.97 +/- 0.019. Sensitivity and specificity for distinguishing the two groups were 90% and 95%, respectively when serum HDL-C 0.62 mmol/L was adopted as cut point. Conclusion: We found for the first time that serum HDL-C is an extremely useful marker for discriminating LPL deficiency from SHTG in Japanese population.
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