Division of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
S Afr Med J. 2022 Apr 29;112(5):307-312.
Acute pancreatitis is an often-overlooked cause of acute abdominal pain in children and adolescents. Severe hypertriglyceridaemia is an important cause of recurrent acute pancreatitis. Monogenic causes of hypertriglyceridaemia, such as familial chylomicronaemia caused by lipoprotein lipase deficiency, are more frequently encountered in children and adolescents, but remain rare. Polygenic hypertriglyceridaemia is more common, but may require a precipitant before manifesting. With the global increase in obesity and type 2 diabetes, secondary causes of hypertriglyceridaemia in children and adolescents are increasing. We report two cases of severe hypertriglyceridaemia and pancreatitis in adolescent females. Hypertriglyceridaemia improved markedly with restriction of dietary fat. An inhibitor to lipoprotein lipase was found to be the cause in one patient, while in the other limited genetic investigation excluded chylomicronaemia owing to deficiency of lipoprotein lipase, its activators and processing proteins.
急性胰腺炎是儿童和青少年急性腹痛常被忽视的原因之一。严重的高甘油三酯血症是复发性急性胰腺炎的一个重要原因。由脂蛋白脂肪酶缺乏引起的家族性乳糜微粒血症等单基因高甘油三酯血症在儿童和青少年中更为常见，但仍然罕见。多基因高甘油三酯血症更为常见，但在表现出来之前可能需要一个诱因。随着全球肥胖症和 2 型糖尿病的增加，儿童和青少年高甘油三酯血症的继发原因也在增加。我们报告了两名青春期女性严重高甘油三酯血症和胰腺炎的病例。通过限制饮食中的脂肪，高甘油三酯血症明显改善。在一名患者中发现脂蛋白脂肪酶抑制剂是其病因，而在另一名患者中，有限的基因调查排除了脂蛋白脂肪酶、其激活剂和加工蛋白缺乏导致的乳糜微粒血症。
