PDF(Pubmed)
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.
METHODS: 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.
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.
METHODS: 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.
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.
摘要：
背景：APOA5基因的纯合突变构成了单基因高甘油三酯血症的罕见原因，或家族性乳糜微粒血症综合征（FCS）。我们搜索了PubMed并鉴定了16例APOA5基因的纯合突变。与甘油三酯调节基因的单基因突变相关的严重高甘油三酯血症可导致复发性急性胰腺炎。管理这种情况的标准治疗方法通常包括饮食干预，贝多类,和欧米茄-3-脂肪酸。一种新的治疗方法，反义寡核苷酸volanesorsen被批准用于FCS患者。
方法：我们报告了一例25岁的阿富汗男性，由于APOA5纯合性引起的严重高甘油三酯血症高达29.8mmol/L而出现急性胰腺炎（c.427delC，p.Arg143Alafs*57)。富含中链TG（MCT）油和贝特类药物的低脂饮食不能预防复发，Volanesorsen被发起了.Volanesorsen导致甘油三酯水平几乎正常化。没有进一步的急性胰腺炎复发。患者报告由于减轻了慢性腹痛和头痛而改善了生活质量。
结论：我们的病例报道了一种罕见但可能危及生命的疾病——单基因高甘油三酯血症诱发的急性胰腺炎。反义药物volanesorsen的实施导致甘油三酯水平的改善，缓解症状,提高了生活质量。
方法：我们报告了一例25岁的阿富汗男性，由于APOA5纯合性引起的严重高甘油三酯血症高达29.8mmol/L而出现急性胰腺炎（c.427delC，p.Arg143Alafs*57)。富含中链TG（MCT）油和贝特类药物的低脂饮食不能预防复发，Volanesorsen被发起了.Volanesorsen导致甘油三酯水平几乎正常化。没有进一步的急性胰腺炎复发。患者报告由于减轻了慢性腹痛和头痛而改善了生活质量。
结论：我们的病例报道了一种罕见但可能危及生命的疾病——单基因高甘油三酯血症诱发的急性胰腺炎。反义药物volanesorsen的实施导致甘油三酯水平的改善，缓解症状,提高了生活质量。
