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.

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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.

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 457 free, full-text research articles on human participants. First 3 results:

Early severe coronary heart disease and ischemic heart failure in homozygous familial hypercholesterolemia: A case report.
 

Author(s): Hongyu Kuang, Xue Zhou, Li Li, Qijian Yi, Weinian Shou, Tiewei Lu

Journal: Medicine (Baltimore). 2018 Oct;97(42):e12869.

 

Familial hypercholesterolemia (FH) is a common inherited cause of coronary heart disease (CHD) and premature death in an early age. Nevertheless, an ischemic heart failure (IHF) associated with FH seems to be rare, and an early diagnosis and therapy could influence the prognosis.

Last Updated: 31 Dec 1969

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Familial hypercholesterolemia supravalvular aortic stenosis and extensive atherosclerosis.
 

Author(s): Rajpal Prajapati, Vikas Agrawal

Journal: Indian Heart J. ;70(4):575-577.

 

Familial hypercholesterolemia is an autosomally dominant disorder caused by various mutations in low-density lipoprotein receptor genes. This can lead to premature coronary atherosclerosis and cardiac-related death. The symptoms are more severe in the homozygous type of the disease. ...

Last Updated: 31 Dec 1969

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Familial hypercholesterolemia revealed by multiple xanthomas.
 

Author(s): Nassiba Elouarradi, Nawal El Ansari

Journal:

 

Last Updated: 31 Dec 1969

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

Novel Approaches for the Treatment of Familial Hypercholesterolemia: Current Status and Future Challenges.
 

Author(s): Long Jiang, Lu-Ya Wang, Xiao-Shu Cheng

Journal: J. Atheroscler. Thromb.. 2018 Aug;25(8):665-673.

 

Familial hypercholesterolemia (FH) is an autosomal-dominant disorder that is characterized by high plasma low-density lipoprotein cholesterol (LDL-c) levels and an increased risk of cardiovascular disease. Despite the use of high-dose statins and the recent addition of proprotein ...

Last Updated: 31 Dec 1969

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Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.
 

Author(s): Asier Benito-Vicente, Kepa B Uribe, Shifa Jebari, Unai Galicia-Garcia, Helena Ostolaza, Cesar Martin

Journal:

 

Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by high blood-cholesterol levels mostly caused by mutations in the low-density lipoprotein receptor (LDLr). With a prevalence as high as 1/200 in some populations, genetic screening for pathogenic LDLr ...

Last Updated: 31 Dec 1969

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The study of familial hypercholesterolemia in Italy: A narrative review.
 

Author(s): Stefano Bertolini, Livia Pisciotta, Tommaso Fasano, Claudio Rabacchi, Sebastiano Calandra

Journal: Atheroscler Suppl. 2017 Oct;29():1-10.

 

In this review we outline our experience in the clinical and molecular diagnosis of familial hypercholesterolemia (FH), built up over more than three decades. We started our work by selecting FH patients on the basis of stringent clinical criteria, including extensive family studies. ...

Last Updated: 31 Dec 1969

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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: 20 Aug 2018

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Greek Registry - Familial Hypercholesterolaemia
 

Status: Recruiting

Condition Summary: Familial Hypercholesterolemia

 

Last Updated: 15 May 2017

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The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository
 

Status: Recruiting

Condition Summary: Homozygous Familial Hypercholesterolemia

 

Last Updated: 9 Oct 2018

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