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 504 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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Lipoprotein(a) in Familial Hypercholesterolemia With Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Gain-of-Function Mutations.
 

Author(s): Hayato Tada, Masa-Aki Kawashiri, Taiji Yoshida, Ryota Teramoto, Atsushi Nohara, Tetsuo Konno, Akihiro Inazu, Hiroshi Mabuchi, Masakazu Yamagishi, Kenshi Hayashi

Journal: Circ. J.. 2016 ;80(2):512-8.

 

It has been shown that serum lipoprotein(a) [Lp(a)] is elevated in familial hypercholesterolemia (FH) with mutation(s) of the LDL receptor (LDLR) gene. However, few data exist regarding Lp(a) levels in FH with gain-of-function mutations of the PCSK9 gene.

Last Updated: 25 Jan 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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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 36 free, full-text review articles on human participants. First 3 results:

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

Author(s): Ricky D Turgeon, Arden R Barry, Glen J Pearson

Journal: Can Fam Physician. 2016 Jan;62(1):32-7.

 

To summarize the pathophysiology, epidemiology, screening, diagnosis, and treatment of familial hypercholesterolemia (FH).

Last Updated: 22 Jan 2016

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The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association.
 

Author(s): Samuel S Gidding, Mary Ann Champagne, Sarah D de Ferranti, Joep Defesche, Matthew K Ito, Joshua W Knowles, Brian McCrindle, Frederick Raal, Daniel Rader, Raul D Santos, Maria Lopes-Virella, Gerald F Watts, Anthony S Wierzbicki,

Journal: Circulation. 2015 Dec;132(22):2167-92.

 

Last Updated: 1 Dec 2015

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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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Spanish Familial Hypercholesterolaemia Cohort Study
 

Status: Recruiting

Condition Summary: Familial Hypercholesterolaemia

 

Last Updated: 23 Feb 2016

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The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository
 

Status: Recruiting

Condition Summary: Homozygous Familial Hypercholesterolemia

 

Last Updated: 9 Aug 2016

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MYOCARDIAL SILENT INFARCTIONS AND FIBROSIS IN FAMILIAL HYPERCHOLESTEROLEMIA (CHOLCOEUR)
 

Status: Recruiting

Condition Summary: Familial Hypercholesterolemia - Heterozygous

 

Last Updated: 4 Aug 2015

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