Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of chylomicron metabolism causing severe elevation of triglyceride (TG) levels (>10 mmol L-1 ). This condition is associated with a significant risk of recurrent acute pancreatitis (AP). AP caused by hypertriglyceridaemia (HTG) has been associated with a worse prognosis and higher mortality rates compared to pancreatitis of other aetiology. Despite its association with poor quality of life and increased lifelong risk of HTG-AP, few healthcare providers are familiar with FCS. Because this condition is under-recognized, the majority of FCS patients are diagnosed after age 20 often after consulting several physicians. Although other forms of severe HTG such as multifactorial chylomicronemia have been associated with high atherosclerotic cardiovascular disease (ASCVD) risk and metabolic abnormalities, ASCVD and metabolic syndrome are not usually observed in FCS patients. Because FCS is a genetic condition, the optimal diagnosis strategy remains genetic testing. The presence of bi-allelic pathogenic mutations in LPL, APOC2, GPIHBP1, APOA5 or LMF1 genes confirms the diagnosis. However, some cases of FCS caused by autoantibodies against LPL or GPIHBP1 proteins have also been reported. Furthermore, a clinical score for the diagnosis of FCS has been proposed but needs further validation. Available treatment options to lower triglycerides such as fibrates or omega-3 fatty acids are not efficacious in FCS patients. Currently, the cornerstone of treatment remains a lifelong very low-fat diet, which prevents the formation of chylomicrons. Finally, inhibitors of apo C-III and ANGPTL3 are in development and may eventually constitute additional treatment options for FCS patients.

中文翻译：

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家族性乳糜血症综合症：严重高甘油三酯血症的公认原因不足。

家族性乳糜微粒血症综合征（FCS）是一种罕见的乳糜微粒代谢常染色体隐性遗传疾病，可导致甘油三酸酯（TG）水平严重升高（> 10 mmol L-1）。这种情况与复发性急性胰腺炎（AP）的重大风险相关。与其他病因性胰腺炎相比，高甘油三酸酯血症（HTG）引起的AP与更差的预后和更高的死亡率相关。尽管它与生活质量低下和HTG-AP的终生风险增加有关，但很少有医疗保健提供者熟悉FCS。由于这种情况未被充分认识，因此大多数FCS患者通常在咨询几位医生后才在20岁后被诊断出。尽管其他形式的严重HTG（例如多因素乳糜血症）与高动脉粥样硬化性心血管疾病（ASCVD）风险和代谢异常相关，但在FCS患者中通常未观察到ASCVD和代谢综合征。由于FCS是遗传病，因此最佳的诊断策略仍然是基因检测。LPL，APOC2，GPIHBP1，APOA5或LMF1基因中双等位基因致病性突变的确诊。但是，也有一些由针对LPL或GPIHBP1蛋白的自身抗体引起的FCS病例的报道。此外，已经提出了用于FCS诊断的临床评分，但是需要进一步的验证。在FCS患者中，可用的降低甘油三酸酯（例如贝特类或omega-3脂肪酸）的治疗选择无效。目前，治疗的基石仍然是终生非常低脂的饮食，可以防止乳糜微粒的形成。最后，载脂蛋白C-III和ANGPTL3的抑制剂正在研发中，可能最终构成FCS患者的其他治疗选择。