Case-report-罕见 APOA5 基因突变同卵携带者的单基因高甘油三酯血症和复发性胰腺炎

Monogenic hypertriglyceridemia and recurrent pancreatitis in a homozygous carrier of a rare APOA5 mutation: a case report

Abstract

Background: Homozygous mutations in the APOA5 gene constitute a rare cause of monogenic hypertriglyceridemia, or familial chylomicronemia syndrome (FCS). We searched PubMed and identified 16 cases of homozygous mutations in the APOA5 gene. Severe hypertriglyceridemia related to monogenic mutations in triglyceride-regulating genes can cause recurrent acute pancreatitis. Standard therapeutic approaches for managing this condition typically include dietary interventions, fibrates, and omega-3-fatty acids. A novel therapeutic approach, antisense oligonucleotide volanesorsen is approved for use in patients with FCS. APOA5 基因的同源突变是单基因高甘油三酯血症或家族性乳糜微粒血症综合征（FCS）的罕见病因。我们检索了 PubMed，发现了 16 例 APOA5 基因同源突变病例。与甘油三酯调节基因单基因突变有关的严重高甘油三酯血症可导致复发性急性胰腺炎。控制这种病症的标准治疗方法通常包括饮食干预、纤维素类药物和欧米伽-3 脂肪酸。反义寡核苷酸 volanesorsen 是一种新型治疗方法，已被批准用于 FCS 患者。

Case presentation: We report a case of a 25-years old Afghani male presenting with acute pancreatitis due to severe hypertriglyceridemia up to 29.8 mmol/L caused by homozygosity in APOA5 (c.427delC, p.Arg143Alafs*57). A low-fat diet enriched with medium-chain TG (MCT) oil and fibrate therapy did not prevent recurrent relapses, and volanesorsen was initiated. Volanesorsen resulted in almost normalized triglyceride levels. No further relapses of acute pancreatitis occurred. Patient reported an improve life quality due to alleviated chronic abdominal pain and headaches. 我们报告了一例 25 岁阿富汗男性急性胰腺炎病例，该患者因 APOA5（c.427delC, p.Arg143Alafs*57）同基因遗传导致严重的高甘油三酯血症，血糖最高达 29.8 mmol/L。富含中链 TG（MCT）油的低脂饮食和纤维酸盐疗法并不能防止复发，因此开始使用沃兰索森。伏立诺森使甘油三酯水平基本恢复正常。急性胰腺炎没有再复发。由于慢性腹痛和头痛有所缓解，患者表示生活质量有所提高。

homozygosity[同源性]

Conclusions: Our case reports a rare yet potentially life-threatening condition-monogenic hypertriglyceridemia-induced acute pancreatitis. The implementation of the antisense drug volanesorsen resulted in improved triglyceride levels, alleviated symptoms, and enhanced the quality of life.我们的病例报告了一种罕见但可能危及生命的疾病--单源性高甘油三酯血症诱发的急性胰腺炎。使用反义药物伏立诺森可改善甘油三酯水平，缓解症状，提高生活质量。

Keywords: APOA5; Acute pancreatitis; Case report; Monogenic hypertriglyceridemia; Volanesorsen.