Minamizuka Takuya, Kobayashi Junji, Tada Hayato, Miyashita Kazuya, Koshizaka Masaya, Maezawa Yoshiro, Ono Hiraku, Yokote Koutaro
Graduate School of Medicine, Chiba University Endocrine Metabolism/Hematology/Geriatric Medicine, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba 260-8677, Japan.
Graduate School of Medicine, Chiba University Endocrine Metabolism/Hematology/Geriatric Medicine, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba 260-8677, Japan.
Clin Chim Acta. 2020 Nov;510:216-219. doi: 10.1016/j.cca.2020.07.031. Epub 2020 Jul 17.
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.
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.
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.
These findings suggest that HL may contribute to the reduction of plasma TG in LPL deficiency.
我们在此报告一名72岁的日本女性，她患有脂蛋白脂肪酶（LPL）缺乏症，并在使用匹伐他汀治疗前后详细分析了她的脂解酶。
她在52岁体检时血清甘油三酯（TG）为22.6 mmol/l。61岁时转诊至我院。她的血清脂蛋白脂肪酶（LPL）浓度极低，提示临床诊断为LPL缺乏症。她在65岁时发生了一次急性胰腺炎。
下一代测序分析显示LPL基因存在纯合无义突变，c.1277G>A（p.Trp409Ter）。她的血清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，她的血清TG、LPL和HL浓度分别变为14.1 mmol/l、20 ng/ml和660 ng/ml。匹伐他汀治疗8周（0.2 mg/天）使血清TG略有降低（15.02→13.58 mmol/l），肝素前HL（66→76 ng/ml）和PHP-HL（660→1118 ng/ml）浓度及PHP-HL活性（253→369 U/l）显著升高，尽管对LPL浓度和活性几乎没有影响。
这些发现表明HL可能有助于降低LPL缺乏症患者的血浆TG。
