AI Article Synopsis

  • Familial combined hyperlipidemia (FCHL) is the most common genetic dyslipidemia, marked by both high cholesterol and triglyceride levels, contributing significantly to cardiovascular diseases.
  • FCHL is associated with various metabolic issues, including dysfunctional fat tissue and slow clearance of certain lipoproteins, linked to specific genes.
  • The review discusses the metabolic pathways and genes involved in FCHL and explores current and emerging treatment options tailored to patients’ genetic backgrounds.

Article Abstract

Among different types of dyslipidemia, familial combined hyperlipidemia (FCHL) is the most common genetic disorder, which is characterized by at least two different forms of lipid abnormalities: hypercholesterolemia and hypertriglyceridemia. FCHL is an important cause of cardiovascular diseases. FCHL is a heterogeneous condition linked with some metabolic defects that are closely associated with FCHL. These metabolic features include dysfunctional adipose tissue, delayed clearance of triglyceride-rich lipoproteins, overproduction of very low-density lipoprotein and hepatic lipids, and defect in the clearance of low-density lipoprotein particles. There are also some genes associated with FCHL such as those affecting the metabolism and clearance of plasma lipoprotein particles. Due to the high prevalence of FCHL especially in cardiovascular patients, targeted treatment is ideal but this necessitates identification of the genetic background of patients. This review describes the metabolic pathways and associated genes that are implicated in FCHL pathogenesis. We also review existing and novel treatment options for FCHL. © 2019 IUBMB Life, 71(9):1221-1229, 2019.

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http://dx.doi.org/10.1002/iub.2073DOI Listing

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