A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review

A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review

Background: Due to nonspecific symptoms, rare dyslipidaemias are frequently misdiagnosed, overlooked, and undertreated, leading to increased risk for severe cardiovascular disease, pancreatitis and/or multiple organ failures before diagnosis. Better guidelines for the recognition and early diagnosis...

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Bibliographic Details
Main Authors: Ursa Sustar, Urh Groselj, Sabeen Abid Khan, Saeed Shafi, Iqbal Khan, Jernej Kovac, Barbara Jenko Bizjan, Tadej Battelino, Fouzia Sadiq
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Genetics
Subjects:
hypertriglyceridemia
triglycerides
glycosylphosphatiliylinositol-anchored high-density lipoprotein-binding protein 1
hyperlipidemia
GPIHBP1
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.983283/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.983283/full

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