Detailed analysis of lipolytic enzymes in a Japanese woman of familial lipoprotein lipase deficiency - Effects of pemafibrate treatment.

Takuya Minamizuka, Junji Kobayashi, Hayato Tada, Kazuya Miyashita, Masaya Koshizaka, Yoshiro Maezawa, Hiraku Ono, Koutaro Yokote
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引用次数: 4

Abstract

Background: We present here a 72-y-old Japanese woman with lipoprotein lipase (LPL) deficiency and analyzed her lipolytic enzymes in detail before and after pemafibrate treatment.

Methods: She had a serum triglycerides (TG) of 22.6 mmol/l at a medical checkup at the age of 52 y. She was referred to our hospital at the age of 61 y. Her serum lipoprotein lipase (LPL) concentration was extremely low, suggesting the clinical diagnosis of LPL deficiency. She experienced an event of acute pancreatitis at the age of 65 y.

Results: Next-generation sequencing analysis revealed a homozygous nonsense mutation in the LPL gene, c.1277G > A (p.Trp409Ter). Her serum TG, LPL and hepatic lipase (HL) concentrations were 15.0 mmol/l, 23 ng/ml and 66 ng/ml, respectively. Fifteen minutes after intravenous heparin injection (30 U/kg), her serum TG, LPL and HL concentrations turned to 14.1 mmol/l, 20 ng/ml and 660 ng/ml, respectively. Eight weeks of pemafibrate treatment (0.2 mg/day) caused a modest reductions in serum TG (15.02 → 13.58 mmol/l) and considerable increases in preheparin HL (66 → 76 ng/ml) and PHP-HL (660 → 1118 ng/ml) concentrations and PHP-HL activities (253 → 369U/l) despite almost no effect on LPL concentrations and activities.

Conclusions: These findings suggest that HL may contribute to the reduction of plasma TG in LPL deficiency.

一名日本女性家族性脂蛋白脂肪酶缺乏症中脂溶酶的详细分析-帕玛菲特治疗的效果。
背景:我们在此报告一名72岁的日本妇女患有脂蛋白脂肪酶(LPL)缺乏症,并详细分析了她的脂溶酶在压脉颤动治疗前后的情况。方法:患者于52岁体检时血清甘油三酯(TG)为22.6 mmol/l, 61岁转诊至我院,血清脂蛋白脂肪酶(LPL)浓度极低,临床诊断为LPL缺乏症。结果:新一代测序分析显示LPL基因c.1277G > a (p.Trp409Ter)存在纯合无义突变。血清TG、LPL和肝脂肪酶(HL)浓度分别为15.0 mmol/l、23 ng/ml和66 ng/ml。静脉注射肝素(30 U/kg) 15分钟后,血清TG、LPL和HL浓度分别变为14.1 mmol/l、20 ng/ml和660 ng/ml。8周的培马哌特治疗(0.2 mg/天)引起血清TG(15.02→13.58 mmol/l)的适度降低,肝素前HL(66→76 ng/ml)和PHP-HL(660→1118 ng/ml)浓度和PHP-HL活性(253→369U/l)的显著增加,但对LPL浓度和活性几乎没有影响。结论:这些发现提示HL可能有助于LPL缺乏症患者血浆TG的降低。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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