Familial Hypercholesterolemia

Common Name(s)

Familial Hypercholesterolemia, Hyperlipoproteinemia type 2

Familial hypercholesterolemia (FH) is an inherited condition that causes abnormally high levels of LDL (low density lipoprotein) cholesterol beginning at birth. When too much LDL cholesterol is present in the blood stream, it builds up in the walls of the arteries and increases the risk of heart attacks and heart disease. Men with FH may have heart attacks in their 40s to 50s, and women with FH may have them in their 50s to 60s. FH is most commonly caused by mutations in the LDLR gene and is usually inherited in an autosomal dominant manner. More rarely, it may be caused by mutations in other genes and can be inherited in an autosomal recessive manner.  Treatment focuses on lowering LDL cholesterol levels in the blood and may include dietary modification and medication.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial Hypercholesterolemia" for support, advocacy or research.

Logo
Familial Hypercholesterolemia (FH) Foundation

The FH Foundation is a patient-centered nonprofit organization dedicated to education, advocacy, and research of Familial Hypercholesterolemia (FH). Our mission is to raise awareness and save lives by increasing the rate of early diagnosis and encouraging proactive treatment. If left untreated, FH leads to aggressive and premature heart disease in women, men and children of all racial and ethnic backgrounds.

Last Updated: 1 Jun 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial Hypercholesterolemia" for support, advocacy or research.

Logo
Familial Hypercholesterolemia (FH) Foundation

The FH Foundation is a patient-centered nonprofit organization dedicated to education, advocacy, and research of Familial Hypercholesterolemia (FH). Our mission is to raise awareness and save lives by increasing the rate of early diagnosis and encouraging proactive treatment. If left untreated, FH leads to aggressive and premature heart disease in women, men and children of all racial and ethnic backgrounds.

http://www.thefhfoundation.org

Last Updated: 1 Jun 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Familial Hypercholesterolemia" returned 494 free, full-text research articles on human participants. First 3 results:

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
 

Author(s): Mahtab Sharifi, Małgorzata Walus-Miarka, Barbara Idzior-Waluś, Maciej T Malecki, Marek Sanak, Ros Whittall, Ka Wah Li, Marta Futema, Steve E Humphries

Journal: Metab. Clin. Exp.. 2016 Mar;65(3):48-53.

 

Familial hypercholesterolemia (FH) is a common autosomal dominant disorder with a frequency of 1 in 200 to 500 in most European populations. Mutations in LDLR, APOB and PCSK9 genes are known to cause FH. In this study, we analyzed the genetic spectrum of the disease in the understudied ...

Last Updated: 19 Feb 2016

Go To URL
Cytochrome c oxidase subunit VIIb as a potential target in familial hypercholesterolemia by bioinformatical analysis.
 

Author(s): G Li, X-J Wu, X-Q Kong, L Wang, X Jin

Journal: Eur Rev Med Pharmacol Sci. 2015 Nov;19(21):4139-45.

 

The aim of the study is to explore the potential familial hypercholesterolemia markers by comparing with healthy controls.

Last Updated: 23 Nov 2015

Go To URL
[Historical xanthomata revealing a familial hypercholesterolemia type IIa].
 

Author(s): Fayçal El Guendouz, Hicham Baïzri

Journal:

 

Last Updated: 2 Nov 2015

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Familial Hypercholesterolemia" returned 31 free, full-text review articles on human participants. First 3 results:

Cascade Screening in Familial Hypercholesterolemia: Advancing Forward.
 

Author(s): Raul D Santos, Thiago S Frauches, Ana P M Chacra

Journal: J. Atheroscler. Thromb.. 2015 ;22(9):869-80.

 

Familial hypercholesterolemia is a genetic disorder associated with elevated LDL-cholesterol and high lifetime cardiovascular risk. Both clinical and molecular cascade screening programs have been implemented to increase early definition and treatment. In this systematic review, we ...

Last Updated: 17 Sep 2015

Go To URL
Familial hypercholesterolemia.
 

Author(s): Victoria Enchia Bouhairie, Anne Carol Goldberg

Journal: Cardiol Clin. 2015 May;33(2):169-79.

 

Familial hypercholesterolemia is a common, inherited disorder of cholesterol metabolism that leads to early cardiovascular morbidity and mortality. It is underdiagnosed and undertreated. Statins, ezetimibe, bile acid sequestrants, niacin, lomitapide, mipomersen, and low-density lipoprotein ...

Last Updated: 5 May 2015

Go To URL
[Familial hypercholesterolemia in cardiac rehabilitation: a new field of interest].
 

Author(s): Marco Ambrosetti, Gabriella Malfatto, Anna Maria Cremona, Marcello Arca, Pompilio Faggiano

Journal: Monaldi Arch Chest Dis. 2014 Jun;82(2):87-92.

 

Familial hypercholesterolemia (FH) is a frequently undiagnosed genetic disease characterized by substantial elevations of low-density lipoprotein cholesterol (LDL-C). The prevalence of heterozygous FH (HeFH) in the general population is 1:500 inhabitants, while the prevalence of homozygous ...

Last Updated: 7 Apr 2015

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Familial Hypercholesterolemia Canada / Hypercholesterolemie Familiale Canada
 

Status: Recruiting

Condition Summary: Familial Hypercholesterolemia; Lipid Disorder

 

Last Updated: 20 Jun 2014

Go to URL
The Spanish Familial Hypercholesterolaemia Cohort Study
 

Status: Recruiting

Condition Summary: Familial Hypercholesterolaemia

 

Last Updated: 23 Feb 2016

Go to URL
Russian Familial Hypercholesterolemia Registry
 

Status: Recruiting

Condition Summary: Familial Hypercholesterolemia

 

Last Updated: 12 May 2015

Go to URL