Detailed analysis of lipolytic enzymes in a Japanese woman of familial lipoprotein lipase deficiency – Effects of pemafibrate treatment
Autor: | Yoshiro Maezawa, Hayato Tada, Takuya Minamizuka, Kazuya Miyashita, Junji Kobayashi, Masaya Koshizaka, Hiraku Ono, Koutaro Yokote |
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Rok vydání: | 2020 |
Předmět: |
0301 basic medicine
Endothelial lipase medicine.medical_specialty Clinical Biochemistry Nonsense mutation Biochemistry 03 medical and health sciences Lipoprotein lipase deficiency 0302 clinical medicine Internal medicine medicine chemistry.chemical_classification Lipoprotein lipase business.industry Biochemistry (medical) GPIHBP1 General Medicine medicine.disease 030104 developmental biology Enzyme Endocrinology chemistry 030220 oncology & carcinogenesis Acute pancreatitis Hepatic lipase business |
Zdroj: | Clinica Chimica Acta. 510:216-219 |
ISSN: | 0009-8981 |
DOI: | 10.1016/j.cca.2020.07.031 |
Popis: | 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. |
Databáze: | OpenAIRE |
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