Background

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.

Objective

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.

Methods

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.

Results

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.

Conclusions

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.

中文翻译：

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糜烂性贫血综合征：家族还是非家族？

背景

糜烂性贫血综合征（CS）是一种代谢性疾病，其特征是血浆甘油三酸酯严重升高（> 880 mg / dL），发病率和死亡率高。该综合征可分为两大类：单基因家族性乳糜血症综合症（FCS）和多因素乳糜血症综合症（MCS），其发生频率尚不明确。

目的

这项研究的目的是在一个单中心的真实环境中分别描述该综合征最常见和最稀有的子集，即MCS和FCS的患病率。

方法

这是对血浆甘油三酯≥880mg / dL的患者的回顾性横断面研究。在食品和药物管理局认可的一组参数之后，对用于识别FCS患者的标准进行了建模。不太严格的标准消除了对胰腺炎的要求，用于对MCS进行分类。文章中详细描述了完整条件。

结果

在查询的2,342,136例患者记录中，有578例甘油三酸酯≥880 mg / dL（0.025％），其中86例有胰腺炎病史。确定了五名符合FCS标准的患者（三名经过基因证实），估计患病率为每1,000,000例〜1-2。另一方面，在186例患者中发现了MCS，估计患病率约为12,000。共有5181例胰腺炎病例（占整个队列的0.22％），其中86例发生在甘油三酸酯≥880 mg / dL的受试者中（占胰腺炎病例的1.7％）。在患有MCS，FCS和继发性高甘油三酯血症的患者中，该亚组中胰腺炎的发生率分别升高了6.5％，100％和17.8％。

结论

CS是一种罕见的疾病，但无论病因如何，都伴有严重的并发症。在CS患者中，MCS的患病率比FCS高40至60倍，并且与发病率高有关。因此，根据临床表现，疾病的识别和治疗应扩展到所有形式的CS。