Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.
Department of Pediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.
Nutrients. 2023 Aug 11;15(16):3535. doi: 10.3390/nu15163535.
: Lipoprotein lipase (LPL) deficiency is a genetic condition. Affected individuals typically develop symptoms related to severe and persistent hypertriglyceridemia, such as abdominal pain and recurrent pancreatitis, before 10 years of age. No pharmacological treatment sustainably lowering triglycerides (TGs) in LPL deficiency patients has been proven to be effective. This study investigated whether a long-chain triglyceride (LCT)-restricted, medium-chain triglyceride (MCT)-supplemented diet enables a meaningful reduction in TGs and reduces LPL-related symptoms in children with LPL deficiency. A single-center retrospective case series study of LPL deficiency patients treated at the Hospital of Sick Children between January 2000 and December 2022 was carried out. Data, extracted from hospital charts, included demographics, diagnosis confirmation, clinical and imaging observations, and biochemical profiles. Seven patients with hypertriglyceridemia > 20 mmol/L suspected of an LPL deficiency diagnosis were included. Six patients had a confirmed molecular diagnosis of LPL deficiency, and one had glycogen storage disease type 1a (GSD1a). Clinical presentation was at a median of 30 days of age (range 1-105), and treatment start, excluding one late-treated patient, was at a median of 42 days (range 2-106). The observation and treatment period of the LPL patients was 48.0 patient years (median 7.1, range 4.3-15.5). The LCT-restricted and MCT-supplemented diet led to an immediate drop in TGs in six out of six LPL patients. TGs improved from a median of 40.9 mmol/L (range 11.4-276.5) pre-treatment to a median of 12.0 mmol/L (range 1.1-36.6) during treatment, total cholesterol from 7.6 mmol/L (4.9-27.0) to 3.9 mmol/L (1.7-8.2), and pancreatic lipase from 631 IU/L (30-1200) to 26.5 IU/L (5-289). In 48 patient years, there was only one complication of pancreatitis and no other disease-specific manifestations or complications. Catch-up growth was observed in one late-treated patient. All patients maintained normal growth and development. As expected, the diet failed to treat hypertriglyceridemia in the GSD1a patient. The dietary restriction of LCT in combination with MCT supplementation as long-term management of pediatric patients with LPL deficiency was feasible, well tolerated, and clinically effective in reducing TG levels and in preventing LPL-related complications.
脂蛋白脂肪酶 (LPL) 缺乏症是一种遗传疾病。受影响的个体通常在 10 岁之前出现与严重和持续的高甘油三酯血症相关的症状，如腹痛和复发性胰腺炎。目前尚无有效的药物治疗可持久降低 LPL 缺乏症患者的甘油三酯 (TGs)。本研究旨在探讨长链甘油三酯 (LCT) 限制、中链甘油三酯 (MCT) 补充饮食是否能有效降低 TGs 并减轻 LPL 缺乏症患儿的 LPL 相关症状。
对 2000 年 1 月至 2022 年 12 月在多伦多儿童医院接受治疗的 LPL 缺乏症患者进行了一项单中心回顾性病例系列研究。从病历中提取的数据包括人口统计学、诊断确认、临床和影像学观察以及生化特征。
纳入了 7 例疑似 LPL 缺乏症诊断的高甘油三酯血症>20mmol/L 的患者。6 例患者有明确的 LPL 缺乏分子诊断，1 例有糖原贮积症 1a 型 (GSD1a)。中位发病年龄为 30 天（范围 1-105），除 1 例晚期治疗患者外，中位治疗开始时间为 42 天（范围 2-106）。LPL 患者的观察和治疗期为 48.0 患者年（中位数 7.1，范围 4.3-15.5）。LCT 限制和 MCT 补充饮食使 6 例 LPL 患者中的 6 例 TGs 立即下降。治疗期间，TGs 从治疗前的中位数 40.9mmol/L（范围 11.4-276.5）降至中位数 12.0mmol/L（范围 1.1-36.6），总胆固醇从 7.6mmol/L（4.9-27.0）降至 3.9mmol/L（1.7-8.2），胰脂肪酶从 631IU/L（30-1200）降至 26.5IU/L（5-289）。在 48 个患者年中，仅发生 1 例胰腺炎并发症，无其他疾病特异性表现或并发症。1 例晚期治疗患者出现追赶生长。所有患者均保持正常生长发育。正如预期的那样，饮食治疗未能治疗 GSD1a 患者的高甘油三酯血症。
LPL 缺乏症患儿长期管理中，LCT 限制结合 MCT 补充饮食作为饮食限制是可行的、耐受良好的，可有效降低 TG 水平，并预防 LPL 相关并发症。
