脂蛋白脂肪酶活性在诊断家族性乳糜微粒血症综合征中的持续应用

IF 2.2 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY

Biochemistry and Biophysics Reports Pub Date : 2025-09-11 DOI:10.1016/j.bbrep.2025.102245

Gregorio Fariña , Magalí Barchuk , Amira Sleiman , Alejandro Castellanos Pinedo , Johnayro Gutierrez Restrepo , Valeria Zago , Juan Patricio Nogueira , Gabriela Berg

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引用次数: 0

摘要

鉴于脂蛋白脂肪酶（LPL）活性测定法尚未标准化用于临床，我们旨在确定适用于我们临床环境的参考值，并确定一个截止点，以帮助区分家族性乳糜微血症综合征和多因素乳糜微血症综合征，特别是在遗传结果不确定的患者中。方法对28例TG水平高于880 mg/dL （10 mmol/L）的患者进行评估，并使用Moulin评分评估其发生FCS的可能性。用放射测定法测定肝素后血浆LPL活性。30例正常甘油三酯血症对照确定参考值。对所有sHTG患者进行FCS典型基因和脂质谱的基因检测。结果LPL活性的参考值为33.3 (18.7-70.3)mIU，临界值为8.42 mIU (NTG中位数的25%)，可用于区分FCS和MCS。18例典型基因无遗传变异的患者，Moulin评分<；9， LPL活性>； 25%的NTG，被归类为MCS。5例遗传诊断为FCS的患者，Moulin评分为10分，LPL活性为25%的NTG。4例遗传结果不确定且Moulin评分为10分的患者根据LPL活性归类为FCS。结论sHTG患者的lpl活性可能有助于区分FCS和MCS，特别是在遗传结果不明确或阴性的患者中，这强调了在诊断中需要专门的实验室支持。

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The Ongoing Utility of lipoprotein lipase activity in diagnosing familial Chylomicronemia Syndrome

Objective

Given that lipoprotein lipase (LPL) activity assays are not standardized for clinical use, we aimed to define reference values applicable to our clinical setting and identify a cut-off point to help distinguish Familial Chylomicronemia Syndrome from Multifactorial Chylomicronemia Syndrome, particularly in patients with inconclusive genetic findings.

Methods

We evaluated 28 patients with a history of TG levels above 880 mg/dL (10 mmol/L), and assessed their likelihood of FCS using the Moulin score. LPL activity was measured in post-heparin plasma using a radiometric assay. Thirty normotriglyceridemic controls were used to define reference values. Genetic testing for FCS canonical genes and lipid profile was performed in all sHTG patients.

Results

The reference value for LPL activity was 33.3 (18.7–70.3) mIU, with a cut-off of 8.42 mIU (25 % of the median of NTG) to distinguish FCS from MCS. Eighteen patients without genetic variants in canonical genes, a Moulin score <9 and LPL activity >25 % of NTG, were classified as MCS. Five genetic diagnosed FCS patients, with a Moulin score>10 presented LPL activity <25 % of NTG. Four patients with inconclusive genetic results and a Moulin score>10 were classified as FCS according to LPL activity.

Conclusion

LPL activity in patients with sHTG could be useful for differentiating FCS and MCS, particularly in patients with ambiguous or negative genetic findings, highlighting the need for specialized laboratory support in diagnostics.

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来源期刊

Biochemistry and Biophysics Reports Biochemistry, Genetics and Molecular Biology-Biophysics

CiteScore

4.60

自引率

0.00%

发文量

191

审稿时长

59 days

期刊介绍： Open access, online only, peer-reviewed international journal in the Life Sciences, established in 2014 Biochemistry and Biophysics Reports (BB Reports) publishes original research in all aspects of Biochemistry, Biophysics and related areas like Molecular and Cell Biology. BB Reports welcomes solid though more preliminary, descriptive and small scale results if they have the potential to stimulate and/or contribute to future research, leading to new insights or hypothesis. Primary criteria for acceptance is that the work is original, scientifically and technically sound and provides valuable knowledge to life sciences research. We strongly believe all results deserve to be published and documented for the advancement of science. BB Reports specifically appreciates receiving reports on: Negative results, Replication studies, Reanalysis of previous datasets.