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Home/ All Articles/ Long-term Pseudo-Hypertriglyceridemia due to Novel GK Splice Variant c.894+2T>C

Abstract & Article Details

Letter • Vol.4, Issue 12 • ISSN: 2766-2276 • Open Access • CC BY 4.0

Open Access Letter Vol.4, Issue 12 December 14, 2023

Long-term Pseudo-Hypertriglyceridemia due to Novel GK Splice Variant c.894+2T>C

DOI: 10.37871/jbres1848
Authors
Enrique Nogueira*, Betariz del Olmo, Concepcion Lobo, Cecilia Gonzalez, Patricia Llovet and Cristina Martinez

Abstract

We here report on a case of a 46-year-old male under evaluation for persistent long-term (for more than 20 years) Hypertriglyceridemia (HTG) submitted to us for a genomic study based in an exome analysis of a mixed dyslipidemia, with Hypercholesterolemia (HC) and HTG (in multiple serum determinations, in recent years on Abbott Alinity Chemistry Analyzers), with unequal response to treatment (with statins for HC, and fibrates for HTG), with a progressive decrease in cholesterol values (now at almost optimal values of LDL cholesterol, around 125 mg/dL) while with no effect on TGs measurements (commonly around 600 mg/dL).

How to Cite

Enrique Nogueira*, Betariz del Olmo, Concepcion Lobo, Cecilia Gonzalez, Patricia Llovet and Cristina Martinez (2023). Long-term Pseudo-Hypertriglyceridemia due to Novel GK Splice Variant c.894+2T>C. Journal of Biomedical Research & Environmental Sciences, 4(12). https://doi.org/10.37871/jbres1848

Article Information

JournalJournal of Biomedical Research & Environmental Sciences (JBRES)
ISSN2766-2276
DOI DOI 10.37871/jbres1848
Volume / IssueVol. 4, Issue 12
ReceivedDecember 12, 2023
AcceptedDecember 13, 2023
PublishedDecember 14, 2023
Article TypeLetter
Pages1664-1666
LicenseCC BY 4.0 — Open Access
PublisherSciRes Literature LLC, Sheridan, WY, USA
LanguageEnglish
Creative Commons BY 4.0

Published under CC BY 4.0 — free to share, copy, adapt, and redistribute with attribution.

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