Unmasking a Rare Genetic Mutation: The Importance of Genetic Testing in Refractory Hypertriglyceridemia

Unmasking a Rare Genetic Mutation: The Importance of Genetic Testing in Refractory Hypertriglyceridemia

Background/Objective: Genetic causes of hypertriglyceridemia like familial chylomicronemia syndrome can be overlooked in everyday practice. We report a patient with a rare genetic mutation, highlighting the importance of genetic testing for timely diagnosis and prevention of complications. Case Repo...

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Bibliographic Details
Main Authors: Panagiotis Theodoropoulos, MD, Nina Maria Fanaropoulou, MD, MSc, Anastasios Manessis, MD
Format: Article
Language:English
Published: Elsevier 2024-11-01
Series:AACE Clinical Case Reports
Subjects:
hypertriglyceridemia
next generation sequencing
hyperlipoproteinemia type I
apolipoprotein V
Online Access:http://www.sciencedirect.com/science/article/pii/S2376060524000932
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