Development of hypertriglyceridemia due to GPIHBP1 autoantibodies prior to clinical diagnosis of systemic lupus erythematosus in a 14-year-old girl
Development of hypertriglyceridemia due to GPIHBP1 autoantibodies prior to clinical diagnosis of systemic lupus erythematosus in a 14-year-old girl
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一名 14 岁女孩在临床诊断系统性红斑狼疮之前因 GPIHBP1 自身抗体出现高甘油三酯血症
DOI：
10.1016/j.alit.2022.05.001
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发表时间：
2022
影响因子：
6.8
通讯作者：
Murakami Masami
中科院分区：
文献类型：
--
作者：
Kunitsu Tomoaki;Harada-Shiba Mariko;Sato Tomomi;Nonomura Kazuo;Kimura Takao;Miyashita Kazuya;Nakajima Katsuyuki;Murakami Masami
糖基磷脂酰肌醇锚定高密度脂蛋白结合蛋白1(GPIHBP1)是一种表达于毛细血管内皮细胞的糖脂锚定蛋白。它结合并运输脂蛋白脂酶(LPL)到它在毛细血管管腔中的作用部位。1最近，GPIHBP1纯合子致病突变被报道会导致严重的终生高甘油三酯血症。2GPIHBP1自身抗体通过阻止GPIHBP1与LPL的结合而引起高甘油三酯血症，有时与系统性红斑狼疮(SLE)等自身免疫性疾病的发生有关。3在此，我们报告一例女性，在诊断为系统性红斑狼疮之前，由于GPIHBP1自身抗体引起的高甘油三酯血症。一位14岁女孩在X-14个月进食后出现反复上腹痛(图1，表1)。她患这种症状已经有一年了。身体检查显示，她身材瘦削(体重49公斤)，身高正常(165.0厘米)，体重指数为18公斤/平方米。她没有其他病史，生命体征正常。体格检查未发现黄色素瘤或视网膜脂肪血症。腹部CT扫描显示肝脾肿大和胰腺增大。她没有自身免疫性疾病或血脂异常的家族史，也没有肥胖、酗酒或怀孕的病史。空腹血清甘油三酯(TGS)为638 mg/dL，进食后为2591 mg/dL。总胆固醇、高密度脂蛋白胆固醇和低密度脂蛋白胆固醇水平分别为207、16和14 mg/dL。诊断结果是她的腹痛是由急性胰腺炎引起的。双链DNA(DsDNA)自身抗体水平为12.9IU/mL。虽然她没有达到系统性红斑狼疮国际合作诊所(SLICC)2012年的SLE标准，4但她被怀疑患有SLE。在服用低脂饮食(每天15e20g)数周后，她的血清甘油三酯水平(进食后)降至200e400 mg/dL。病人的腹痛也因她的血清甘油三酯水平而减轻。病人在第X-11个月进行了详细的检查(图1，表1)。注射肝素前后血浆LPL水平分别为6.9 ng/m L和17.3 ng/m L。然而，未检测到抗LPL的自身抗体。血浆GPIHBP1
Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) is a glycolipid-anchored protein expressed on capillary endothelial cells. It binds and transports lipoprotein lipase (LPL) to its site of action in the capillary lumen. 1 Recently, homozygous pathogenic mutations in GPIHBP1 have been reported to cause severe lifelong hypertriglyceridmia. 2 GPIHBP1 autoantibodies have been shown to cause hypertriglyceridemia by preventing the binding of GPIHBP1 to LPL and are sometimes associated with the development of autoimmune diseases such as systemic lupus erythematosus (SLE). 3 Here, we report the case of a female with hypertriglyceridemia due to GPIHBP1 autoantibodies before the diagnosis of SLE. A 14-year-old girl presented with recurrent upper abdominal pain after eating on day X-14 months (Fig. 1, Table 1). She had been suffering from this symptom for 1 year. Physical examination revealed that she was lean (weight, 49 kg) and had a normal height (165.0 cm) with a body mass index of 18 kg/m2. She had no other medical history, and her vital signs were normal. A physical examination revealed no eruptive xanthomas or lipemia retinalis. An abdominal CT scan showed hepatosplenomegaly and pancreatic enlargement. She had no family history of autoimmune diseases or dyslipidemia and no history of obesity, alcohol abuse, or pregnancy. The level of serum triglycerides (TGs) was 638 mg/dL after fasting and 2591 mg/dL after eating. The levels of total cholesterol, high-density lipoprotein cholesterol, and low-density lipoprotein cholesterol were 207, 16, and 14 mg/dL, respectively. The diagnosis was that her abdominal pain was caused by acute pancreatitis. The level of double-stranded DNA (dsDNA) autoantibody was 12.9 IU/mL. Although she did not fulfill the Systemic Lupus Erythematosus International Collaborating Clinics (SLICC) criteria (2012) for SLE, 4 she was suspected of having SLE. After administration of a low-fat diet (15e20 g/day) for several weeks, her serum TG levels (after eating) decreased to a range of 200e400 mg/dL. The patient's abdominal pain also diminished owing to her serum TG levels.The patient was examined in detail on day X-11 months (Fig. 1, Table 1). Her plasma LPL levels before and after injection of heparin were 6.9 ng/mL and 17.3 ng/mL, respectively. However, autoantibodies against LPL were not detected. The plasma GPIHBP1