Familial combined hyperlipidemia: An overview of the underlying molecular mechanisms and therapeutic strategies

Eskandar Taghizadeh, Reza Jafarzadeh Esfehani, Amirhossein Sahebkar, Seyed Mostafa Parizadeh, Daryoush Rostami, Mohammadreza Mirinezhad, Arash Poursheikhani, Majid Ghayour Mobarhan, Alireza Pasdar* (Corresponding Author)

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

32 Citations (Scopus)


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
Original languageEnglish
Pages (from-to)1221–1229
Number of pages9
JournalIUBMB life
Issue number9
Early online date4 Jul 2019
Publication statusPublished - Sept 2019


  • familial combined hyperlipidemia
  • therapy
  • molecular pathway
  • hypercholesterolemia
  • hypertriglyceridemia


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