Abstract：
Recent studies have reported that patients with autoimmune hyperchylomicronemia caused by glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1 (GPIHBP1) autoantibodies are associated with rheumatoid arthritis, systemic lupus erythematosus, Sjogren\'s syndrome, Hashimoto\'s thyroiditis, Basedow\'s disease, and immune thrombocytopenia. We report a rare case of hyperchylomicronemia due to GPIHBP1 autoantibodies and fluctuating thyroid autoimmune disease. A 28-year-old woman, diagnosed with Hashimoto\'s thyroiditis at 26 years of age, started taking 50 µg/day of levothyroxine sodium. She had an episode of acute pancreatitis at 27 years of age; her serum triglyceride (TG) level was 1291 mg/dL at that time. The patient was referred to our hospital because her hyperchylomicronemia (hypertriglyceridemia) did not improve on treatment with pemafibrate and eicosapentaenoic acid (EPA). Serum total cholesterol and TG levels were 237 mg/dL and 2535 mg/dL, respectively, while plasma pre-heparin lipoprotein lipase (LPL) mass was 15 ng/mL (26.5-105.5 ng/mL). We diagnosed her as Basedow\'s disease based on autoimmune antibodies and ultrasound examination. Targeted exome sequencing revealed no pathogenic variants in the LPL or GPIHBP1 genes. The serum GPIHBP1 autoantibody level was 686.0 U/mL (<58.4 U/mL) and GPIHBP1 mass was 301.9 pg/mL (570.6-1625.6 pg/mL). The patient showed hyperchylomicronemia during periods of hypothyroidism and hyperthyroidism, whereas GPIHBP1 autoantibodies were positive during episode of hyperchylomicronemia but negative during periods of normal TG levels. Based on these findings, the patient was diagnosed with hyperchylomicronemia due to GPIHBP1 autoantibodies and treated with rituximab. GPIHBP1 autoantibodies remained undetectable and TG levels were controlled at approximately 200 mg/dL.
摘要：
最近有研究报道,糖基磷脂酰肌醇锚定高密度脂蛋白结合蛋白1(GPIHBP1)自身抗体引起的自身免疫性高乳糜微粒血症患者与类风湿性关节炎有关,系统性红斑狼疮,干燥综合征,桥本甲状腺炎,Basedow的病,和免疫性血小板减少症。我们报告了由于GPIHBP1自身抗体和甲状腺自身免疫性疾病波动引起的罕见高乳糜微粒血症。一个28岁的女人,26岁时被诊断为桥本甲状腺炎，开始服用50微克/天的左甲状腺素钠。她在27岁时患有急性胰腺炎；当时她的血清甘油三酯（TG）水平为1291mg/dL。患者被转诊到我们医院，因为她的高乳糜微粒血症（高甘油三酯血症）在使用倍贝特和二十碳五烯酸（EPA）治疗后没有改善。血清总胆固醇和TG水平分别为237mg/dL和2535mg/dL,分别,而血浆前肝素脂蛋白脂肪酶（LPL）质量为15ng/mL（26.5-105.5ng/mL）。根据自身免疫抗体和超声检查，我们诊断她为Basedow病。靶向外显子组测序显示LPL或GPIHBP1基因中没有致病变体。血清GPIHBP1自身抗体水平为686.0U/mL（<58.4U/mL），GPIHBP1质量为301.9pg/mL（570.6-1625.6pg/mL）。患者在甲状腺功能减退和甲状腺功能亢进期间表现为高乳糜微粒血症，而GPIHBP1自身抗体在高乳糜微粒血症发作期间呈阳性，但在TG水平正常期间呈阴性。基于这些发现,患者因GPIHBP1自身抗体被诊断为高乳糜微粒血症,并接受了利妥昔单抗治疗.GPIHBP1自身抗体仍然检测不到，TG水平控制在约200mg/dL。
