Center for Preventive Cardiology, Knight Cardiovascular Institute, Oregon Health & Science University, Portland, OR, USA.
Center for Preventive Cardiology, Knight Cardiovascular Institute, Oregon Health & Science University, Portland, OR, USA; OHSU-PSU School of Public Health, Oregon Health & Science University, Portland, OR, USA.
J Clin Lipidol. 2020 Mar-Apr;14(2):201-206. doi: 10.1016/j.jacl.2020.01.014. Epub 2020 Jan 31.
Chylomicronemia syndrome (CS) is a metabolic condition characterized by severely elevated plasma triglycerides (>880 mg/dL) and high rates of morbidity and mortality. The syndrome can be classified into two major groups: monogenic familial chylomicronemia syndrome (FCS) and multifactorial chylomicronemia syndrome (MCS), the frequencies of which are ill-defined.
The objective of the study was to characterize the prevalence of the most common and rarest subsets of this syndrome, MCS and FCS, respectively, in a single-center, real-world setting.
This was a retrospective cross-sectional study of patients with plasma triglycerides ≥880 mg/dL. The criteria used for identification of patients with FCS were modeled after a Food and Drug Administration endorsed set of parameters. Less stringent criteria that removed the requirement for pancreatitis were used to classify MCS. Full criteria are described in detail in the article.
Of the 2,342,136 patient records queried, 578 had triglycerides ≥880 mg/dL (0.025%), of which 86 had a documented history of pancreatitis. Five patients who met the criteria for FCS were identified (three genetically confirmed), resulting in an estimated prevalence of ~1-2 per 1,000,000. On the other hand, MCS was identified in 186 patients, corresponding to an estimated prevalence of ~1 in 12,000. There were 5181 cases of pancreatitis (0.22% of the entire cohort), 86 of which occurred in subjects with triglycerides≥880 mg/dL (1.7% of cases of pancreatitis). Rates of pancreatitis in this subset were elevated at 6.5%, 100%, and 17.8%, among patients with MCS, FCS, and secondary hypertriglyceridemia, respectively.
CS is an uncommon condition, but it is associated with significant complications, regardless of etiology. Among patients with CS, MCS was 40- to 60-fold more prevalent than FCS and associated with frequent morbidity. Therefore, disease recognition and treatment should extend to all forms of CS pursuant to the clinical presentation.
乳糜微粒血症综合征（CS）是一种代谢性疾病，其特征为血浆甘油三酯严重升高（>880mg/dL），发病率和死亡率均较高。该综合征可分为两类：单基因家族性乳糜微粒血症综合征（FCS）和多因素乳糜微粒血症综合征（MCS），但其频率尚未明确。
本研究旨在描述单中心真实环境中最常见和最罕见的 MCS 和 FCS 亚组的患病率。
这是一项对血浆甘油三酯≥880mg/dL 的患者进行的回顾性横断面研究。FCS 患者的识别标准是基于美国食品和药物管理局认可的一套参数。使用不太严格的标准，去除胰腺炎的要求，对 MCS 进行分类。详细标准在文章中描述。
在查询的 2342136 名患者记录中，有 578 名患者的甘油三酯≥880mg/dL（0.025%），其中 86 名有胰腺炎的病史记录。发现了 5 名符合 FCS 标准的患者（3 名经基因证实），估计患病率约为每 100 万人中有 1-2 人。另一方面，在 186 名患者中发现了 MCS，估计患病率约为每 12000 人中有 1 人。共有 5181 例胰腺炎（整个队列的 0.22%），其中 86 例发生在甘油三酯≥880mg/dL 的患者中（胰腺炎病例的 1.7%）。在 MCS、FCS 和继发性高甘油三酯血症患者中，胰腺炎的发生率分别为 6.5%、100%和 17.8%。
CS 是一种罕见的疾病，但无论病因如何，它都与严重的并发症相关。在 CS 患者中，MCS 的患病率比 FCS 高 40-60 倍，且常伴有发病率。因此，根据临床表现，应将疾病识别和治疗扩展到所有形式的 CS。
