Familial Hypercholesterolemia: From Diagnosis to Treatment

Authors

  • Ehsan Farashahi Yazd Department of Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.Research and Clinical Centre for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Elaheh Asadi Department of Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Mohammad Hassan Sheikhha Department of Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.Research and Clinical Centre for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Nasrin Ghasemi Department of Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Razieh Zarifian Yeganeh Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran.
Abstract:

Familial hypercholesterolemia (FH) is an inherited common autosomal Mendelian disorder of lipoprotein metabolism with a population prevalence of 1 in 500. FH is characterized by severely elevated levels of low-density lipoprotein cholesterol (LDL-C), which result in surplus deposition of cholesterol in tissues. This condition leads to premature at hero sclerosis and early-onset of coronary heart disease. FH mainly results from mutations in the LDLR gene. However, mutations in other genes like APOB and PCSK9 can cause similar phenotype. Early diagnosis and treatment of FH patients will reduce morbidity and mortality. Index cases are usually diagnosed using cholesterol levels, clinical characteristics and familial history despite this, genetic testing may present a decisive diagnosis of FH by detecting a pathological mutation. Then cascade testing is implemented for first-degree relatives by using lipid levels and genetic tests. This is the most cost-effective strategy performed in some countries. Statins are the first-line treatment in most of the patients for LDL-C reduction. Nonetheless, many FH patients cannot attain to the normal LDL-C levels with statins consumption. For these patients several new classes of pharmacotherapy and novel strategies exist to obtain greater LDL-C reductions such as ezetimibe, colesevelam, thyroid hormone analogs, microsomal triglyceride transfer protein inhibitors, apolipoprotein B100 antisense and PCSK9-specific monoclonal antibodies. In this article we review familial hypercholesterolemia, its diagnostic methods and genetic tests, new pharmacotherapies and novel strategies in the management of familial hypercholesterolemia.

Upgrade to premium to download articles

Sign up to access the full text

Already have an account?login

similar resources

familial hypercholesterolemia: from diagnosis to treatment

familial hypercholesterolemia (fh) is an inherited common autosomal mendelian disorder of lipoprotein metabolism with a population prevalence of 1 in 500. fh is characterized by severely elevated levels of low-density lipoprotein cholesterol (ldl-c), which result in surplus deposition of cholesterol in tissues. this condition leads to premature at hero sclerosis and early-onset of coronary hear...

full text

Molecular Diagnosis of Familial Hypercholesterolemia

Abstract Background and objectives: Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been associated with increased risk of coronary heart disease and premature death. The mutation in LDLR gene in most cases is responsible for FH phenotype. Furthermore, other ...

full text

[Diagnosis and treatment of familial hypercholesterolemia].

Familial hypercholesterolemia is the most frequent monogenetic disease. The mode of transmission is autosomal dominant. This disease is characterized by severe elevations of low-density lipoprotein cholesterol (LDLc), with the possibility of deposits in different tissues. Unless treated appropriately, this disorder carries a high risk of vascular complications and shortened life expectancy. The...

full text

molecular diagnosis of familial hypercholesterolemia

full text

Challenges in the Diagnosis and Treatment of Homozygous Familial Hypercholesterolemia

Homozygous familial hypercholesterolemia (HoFH) is a rare, genetic disorder characterized by an absence or impairment of low-density lipoprotein receptor (LDLR) function resulting in significantly elevated low-density lipoprotein cholesterol (LDL-C) levels. The cholesterol exposure burden beginning in utero greatly increases the risk for atherosclerotic cardiovascular disease (ASCVD) and premat...

full text

Familial hypercholesterolemia: Review of diagnosis, screening, and treatment.

OBJECTIVE To summarize the pathophysiology, epidemiology, screening, diagnosis, and treatment of familial hypercholesterolemia (FH). QUALITY OF EVIDENCE A PubMed search was conducted (inception to July 2014) for articles on pathophysiology, screening, diagnosis, and management of FH, supplemented with hand searches of bibliographies of guidelines and reviews. A supporting level of evidence fo...

full text

My Resources

Save resource for easier access later

Save to my library Already added to my library

{@ msg_add @}


Journal title

volume 6  issue 4

pages  186- 196

publication date 2014-12

{@ msg @}

By following a journal you will be notified via email when a new issue of this journal is published.

Keywords

Hosted on Doprax cloud platform doprax.com

copyright © 2015-2023