Maltais Mélanie, Brisson Diane, Gaudet Daniel
Lipidology Unit, Community Genomic Medicine Center, Department of Medicine, Université de Montréal, ECOGENE-21 Clinical and Translational Research Center, Chicoutimi, QC G7H 7K9, Canada.
J Clin Med. 2021 Feb 9;10(4):669. doi: 10.3390/jcm10040669.
Non-alcoholic fatty liver disease (NAFLD) is frequent in patients with features of the metabolic syndrome (MetS), obesity, or type 2 diabetes. Lipoprotein lipase (LPL) is the main driver of triglyceride (TG) hydrolysis in chylomicrons and very-low density lipoproteins (VLDL). In some patients with MetS, dysfunction of this pathway can lead to plasma TG values > 10 mmol/L (multifactorial chylomicronemia or MCS). Chylomicronemia also characterizes LPL deficiency (LPLD), a rare autosomal recessive disease called familial chylomicronemia syndrome (FCS), which is associated with an increased risk of recurrent pancreatitis. This study aims to investigate the expression of NAFLD, as assessed by transient elastography, in MCS and FCS subjects. Data were obtained from 38 subjects with chylomicronemia; 19 genetically confirmed FCS and 19 sex- and age-matched MCS. All participants underwent liver ultrasonography and stiffness measurement after a 4-h fast using transient elastography (FibroScan, Echosens, Waltham, MA, USA). NAFLD (controlled attenuation parameter (CAP) > 280 dB/m) was observed in 42.1% of FCS and 73.7% of MCS subjects ( = 0.05). FCS subjects had lower body mass index (BMI) than MCS. Only 25% of FCS subjects with NAFLD had a BMI ≥ 30 compared to 64.3% in MCS ( = 0.004). In FCS, NAFLD occurred even in the presence of very low (≤18 kg/m) BMI. In both FCS and MCS, CAP was negatively associated with acute pancreatitis risk. In this study, NAFLD was commonly observed in both FCS and MCS subjects and occurred independently of the BMI and fasting glucose values in FCS; NAFLD was associated with a lower occurrence of acute pancreatitis episodes.
非酒精性脂肪性肝病（NAFLD）在具有代谢综合征（MetS）、肥胖或2型糖尿病特征的患者中很常见。脂蛋白脂肪酶（LPL）是乳糜微粒和极低密度脂蛋白（VLDL）中甘油三酯（TG）水解的主要驱动因素。在一些MetS患者中，该途径功能障碍可导致血浆TG值>10 mmol/L（多因素乳糜微粒血症或MCS）。乳糜微粒血症也是LPL缺乏症（LPLD）的特征，LPLD是一种罕见的常染色体隐性疾病，称为家族性乳糜微粒血症综合征（FCS），与复发性胰腺炎风险增加相关。本研究旨在通过瞬时弹性成像评估MCS和FCS受试者中NAFLD的表达情况。数据来自38名患有乳糜微粒血症的受试者；19名经基因确诊的FCS患者以及19名性别和年龄匹配的MCS患者。所有参与者在禁食4小时后接受肝脏超声检查，并使用瞬时弹性成像（FibroScan，Echosens，美国马萨诸塞州沃尔瑟姆）测量肝脏硬度。在42.1%的FCS患者和73.7%的MCS患者中观察到NAFLD（控制衰减参数（CAP）>280 dB/m）（P = 0.05）。FCS患者的体重指数（BMI）低于MCS患者。在患有NAFLD的FCS患者中，只有25%的患者BMI≥30，而在MCS患者中这一比例为64.3%（P = 0.004）。在FCS中，即使BMI非常低（≤18 kg/m²）也会发生NAFLD。在FCS和MCS中，CAP均与急性胰腺炎风险呈负相关。在本研究中，FCS和MCS受试者中均常见NAFLD，且在FCS中其发生与BMI和空腹血糖值无关；NAFLD与急性胰腺炎发作的发生率较低相关。
