Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia
| Autor: | Akira Haketa, Yoshihiro Nakamura, Hiroki Kobayashi, Yoshinari Hatanaka, Masanori Abe, Takahiro Ueno, Masayoshi Soma, Noboru Fukuda, Akiko Tsunemi, Sho Tanaka |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male Heterozygote medicine.medical_specialty lipoprotein lipase Case Report Diabetes Complications Lipoprotein lipase deficiency Insulin resistance Ezetimibe Internal medicine Diabetes mellitus Internal Medicine medicine Humans Age of Onset triglycerides Hypolipidemic Agents Hypertriglyceridemia Lipoprotein lipase Bezafibrate business.industry Genetic Variation nutritional and metabolic diseases General Medicine medicine.disease Endocrinology Hyperlipoproteinemia Type I lipids (amino acids peptides and proteins) Insulin Resistance business chylomicronemia Dyslipidemia medicine.drug |
| Zdroj: | Internal Medicine |
| ISSN: | 1349-7235 0918-2918 |
| DOI: | 10.2169/internalmedicine.0952-18 |
| Popis: | A 40-year-old Japanese man presented with child-onset hypertriglyceridemia recently complicated by diabetes mellitus. The patient's diabetes mellitus was maintained, but he had persistent insulin resistance. The patient also had persistent severe hypertriglyceridemia (1,224-4,104 mg/dL), despite the administration of bezafibrate and ezetimibe. Type V dyslipidemia was revealed by agarose gel electrophoresis and the refrigerator test, and a significantly reduced post-heparin lipoprotein lipase mass of 26 ng/mL was confirmed. Genetic testing confirmed two heterozygous LPL variants, p.Tyr88X and p.Gly215Glu in trans; thus, the patient was diagnosed with lipoprotein lipase deficiency. Lipoprotein lipase deficiency typically arises in type I dyslipidemia, but is latent in type V dyslipidemia. |
| Databáze: | OpenAIRE |
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