Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia

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), despit...

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Detalles Bibliográficos
Autores principales: Tanaka, Sho, Ueno, Takahiro, Tsunemi, Akiko, Nakamura, Yoshihiro, Kobayashi, Hiroki, Hatanaka, Yoshinari, Haketa, Akira, Fukuda, Noboru, Soma, Masayoshi, Abe, Masanori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378159/
https://www.ncbi.nlm.nih.gov/pubmed/30210108
http://dx.doi.org/10.2169/internalmedicine.0952-18
Descripción
Sumario: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.

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