Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia.

Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia. Intern Med. 2018 Sep 12;: Authors: Tanaka S, Ueno T, Tsunemi A, Nakamura Y, Kobayashi H, Hatanaka Y, Haketa A, Fukuda N, Soma M, Abe M Abstract 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. PMID: 30210108 [PubMed - as supplied by publisher]
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research