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

Enrique Nogueira*; Betariz del Olmo; Concepcion Lobo; Cecilia Gonzalez; Patricia Llovet; Cristina Martinez

doi:10.37871/jbres1848

Letter

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

Journal of Biomedical Research & Environmental Sciences article abstract with citation details, DOI, publication dates, subject areas, full text links, and references.

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Article Type Letter

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Enrique Nogueira*, Betariz del Olmo, Concepcion Lobo, Cecilia Gonzalez, Patricia Llovet and Cristina Martinez

Issue: Volume4-Issue12

Pages: 1664-1666

Received: 2023-12-12

Accepted: 2023-12-13

Published: 2023-12-14

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).

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How to cite this article

Nogueira E, del Olmo B, Lobo C, Gonzalez C, Llovet P, Martinez C. Long-term Pseudo-Hypertriglyceridemia due to Novel GK Splice Variant c.894+2T>C. J Biomed Res Environ Sci. 2023 Dec 14; 4(12): 1664-1666. doi: 10.37871/jbres1848, Article ID: JBRES1848, Available at: https://www.jelsciences.com/articles/jbres1848.pdf

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References

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