Lipids, Nutrition and Cardiovascular Prevention Clinic, Montreal Clinical Research Institute, Québec, Canada.
Lipids, Nutrition and Cardiovascular Prevention Clinic, Montreal Clinical Research Institute, Québec, Canada; Department of Medicine, Division of Endocrinology, Université de Montreal, Canada.
Atherosclerosis. 2019 Apr;283:137-142. doi: 10.1016/j.atherosclerosis.2018.12.019. Epub 2018 Dec 28.
Chylomicronemia can be either monogenic or multifactorial. The monogenic form, namely familial chylomicronemia syndrome (FCS), is a rare autosomal recessive disease that strongly predisposes to pancreatitis. However, the clinical variables differentiating FCS from multifactorial chylomicronemia (MCM) are not well established. The aims of the present study were to describe a well-defined cohort of FCS subjects and to investigate the differences between patients with FCS and MCM.
A total of 25 FCS and 36 MCM patients were included in the present study. FCS patients were genetically confirmed, whereas MCM patients had negative genetic testing, triglycerides above 10 mmol/L at least once and the presence of both chylomicrons and VLDL in plasma.
FCS patients presented a significant higher frequency of pancreatitis (60% vs. 6%), multiple pancreatitis (48% vs. 3%) and abdominal pain (63% vs. 19%) and a lower frequency of metabolic abnormalities than in the MCM group (p < 0.0001). In addition, the frequency of cardiovascular events was higher in the MCM group than in the FCS group (17% vs. 0%), although the difference was not statistically significant (p = 0.07). In a univariate regression model, the significant predictors of FCS were age at first manifestation (β = -2.11, p = 0.0005), body mass index (BMI) (β = -1.82, p < 0.001) and gamma-glutamyl transferase (GGT) (β = -1.64, p = 0.001).
Our study identified several variables that significantly differentiates FCS from MCM patients. These results need to be replicated in larger cohorts to identify the independent predictors of FCS.
乳糜微粒血症可以是单基因的，也可以是多因素的。单基因形式，即家族性乳糜微粒血症综合征（FCS），是一种罕见的常染色体隐性疾病，强烈倾向于引发胰腺炎。然而，将 FCS 与多因素乳糜微粒血症（MCM）区分开来的临床变量尚未得到很好的确定。本研究的目的是描述一个明确的 FCS 患者队列，并研究 FCS 患者和 MCM 患者之间的差异。
本研究共纳入 25 例 FCS 和 36 例 MCM 患者。FCS 患者经基因确证，而 MCM 患者的基因检测结果为阴性，至少有一次甘油三酯水平高于 10mmol/L，且血浆中同时存在乳糜微粒和 VLDL。
FCS 患者胰腺炎的发生率（60% vs. 6%）、多次胰腺炎（48% vs. 3%）和腹痛（63% vs. 19%）显著更高，代谢异常的发生率更低（均 p<0.0001）。此外，MCM 组心血管事件的发生率高于 FCS 组（17% vs. 0%），尽管差异无统计学意义（p=0.07）。在单变量回归模型中，FCS 的显著预测因子为首次发病年龄（β=-2.11，p=0.0005）、体重指数（BMI）（β=-1.82，p<0.001）和γ-谷氨酰转移酶（GGT）（β=-1.64，p=0.001）。
本研究确定了一些可显著区分 FCS 患者和 MCM 患者的变量。这些结果需要在更大的队列中进行复制，以确定 FCS 的独立预测因子。
