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.

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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

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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

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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 499 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

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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

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[Historical xanthomata revealing a familial hypercholesterolemia type IIa].
 

Author(s): Fayçal El Guendouz, Hicham Baïzri

Journal:

 

Last Updated: 2 Nov 2015

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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 34 free, full-text review articles on human participants. First 3 results:

New Approaches in Detection and Treatment of Familial Hypercholesterolemia.
 

Author(s): Merel L Hartgers, Kausik K Ray, G Kees Hovingh

Journal: Curr Cardiol Rep. 2015 Dec;17(12):109.

 

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that clinically leads to increased low density lipoprotein-cholesterol (LDL-C) levels. As a consequence, FH patients are at high risk for cardiovascular disease (CVD). Mutations are found in genes coding ...

Last Updated: 20 Oct 2015

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Challenges in the Diagnosis and Treatment of Homozygous Familial Hypercholesterolemia.
 

Author(s): Matthew K Ito, Gerald F Watts

Journal: Drugs. 2015 Oct;75(15):1715-24.

 

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 ...

Last Updated: 20 Oct 2015

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Optimizing Treatment of Familial Hypercholesterolemia in Children and Adolescents.
 

Author(s): Ilse K Luirink, Barbara A Hutten, Albert Wiegman

Journal: Curr Cardiol Rep. 2015 Sep;17(9):629.

 

Cardiovascular disease (CVD) is still the most prominent cause of death and morbidity in the world, and one of the major risk factors for developing CVD is hypercholesterolemia. Familial hypercholesterolemia (FH) is a dominantly inherited disorder characterized by markedly elevated ...

Last Updated: 15 Aug 2015

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Symptoms, Diagnosis, and Treatment

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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

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The Spanish Familial Hypercholesterolaemia Cohort Study
 

Status: Recruiting

Condition Summary: Familial Hypercholesterolaemia

 

Last Updated: 23 Feb 2016

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Russian Familial Hypercholesterolemia Registry
 

Status: Recruiting

Condition Summary: Familial Hypercholesterolemia

 

Last Updated: 12 May 2015

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