Chylomicronemia caused by a deficiency in lipoprotein lipase (LPL) or GPIHBP1 (the endothelial cell protein that transports LPL to the capillary lumen) is typically diagnosed during childhood and represents a serious, lifelong medical problem. Affected patients have high plasma triglyceride levels (>1500 mg/dL) and a high risk of acute pancreatitis. However, chylomicronemia frequently presents later in life in the absence of an obvious monogenic cause. In these cases, the etiology for the chylomicronemia is presumed to be “multifactorial” (involving diabetes, drugs, alcohol, or polygenic factors), but on a practical level, the underlying cause generally remains a mystery. Here, we describe a 15-year-old female with chylomicronemia caused by GPIHBP1 autoantibodies (which abolish LPL transport to the capillary lumen). Remarkably, chylomicronemia in this patient was intermittent, interspersed between periods when the plasma triglyceride levels were normal. GPIHBP1 autoantibodies were easily detectable during episodes of chylomicronemia but were undetectable during periods of normotriglyceridemia. During the episodes of chylomicronemia (when GPIHBP1 autoantibodies were present), plasma LPL levels were low, consistent with impaired LPL transport into capillaries. During periods of normotriglyceridemia, when GPIHBP1 autoantibodies were absent, plasma LPL levels normalized. Because the chylomicronemia in this patient was accompanied by debilitating episodes of acute pancreatitis, the patient was ultimately treated with immunosuppressive drugs, which resulted in disappearance of GPIHBP1 autoantibodies and normalization of plasma triglyceride levels. GPIHBP1 autoantibodies need to be considered in patients who present with unexplained acquired cases of chylomicronemia.

由脂蛋白脂肪酶 (LPL) 或 GPIHBP1（将 LPL 转运到毛细血管腔的内皮细胞蛋白）缺乏引起的乳糜微粒血症通常在儿童时期被诊断出来，并且代表了一个严重的、终生的医学问题。受影响的患者具有高血浆甘油三酯水平（>1500 mg/dL）和急性胰腺炎的高风险。然而，乳糜微粒血症经常在没有明显的单基因原因的情况下出现在生命的后期。在这些情况下，乳糜微粒血症的病因被认为是“多因素的”（涉及糖尿病、药物、酒精或多基因因素），但在实际水平上，根本原因通常仍然是个谜。在这里，我们描述了一名 15 岁女性患有由 GPIHBP1 自身抗体引起的乳糜微粒血症（其消除了 LPL 向毛细血管腔的转运）。值得注意的是，该患者的乳糜微粒血症是间歇性的，散布在血浆甘油三酯水平正常的时期之间。GPIHBP1 自身抗体在乳糜微粒血症发作期间很容易检测到，但在甘油三酯正常期间检测不到。在乳糜微粒血症发作期间（当存在 GPIHBP1 自身抗体时），血浆 LPL 水平较低，这与 LPL 进入毛细血管的转运受损一致。在甘油三酯正常期间，当 GPIHBP1 自身抗体不存在时，血浆 LPL 水平正常化。由于该患者的乳糜微粒血症伴有使人衰弱的急性胰腺炎发作，该患者最终接受了免疫抑制药物治疗，导致 GPIHBP1 自身抗体消失和血浆甘油三酯水平正常化。