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

Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
 

Author(s): David S Wald, Jonathan P Bestwick, Nicholas J Wald

Journal: N. Engl. J. Med.. 2017 02;376(5):499-500.

 

Last Updated: 1 Feb 2017

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Estimated Prevalence of Heterozygous Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome.
 

Author(s): Hirotoshi Ohmura, Yoshifumi Fukushima, Atsushi Mizuno, Koichiro Niwa, Yohei Kobayashi, Toshiaki Ebina, Kazuo Kimura, Shun Ishibashi, Hiroyuki Daida,

Journal: Int Heart J. 2017 Feb;58(1):88-94.

 

Heterozygous familial hypercholesterolemia (FH) represents a strong risk for development of premature coronary artery disease (CAD). However, the majority of patients with FH are undiagnosed and the prevalence likely represents an underestimate in most countries. In Japan, the possible ...

Last Updated: 26 Jan 2017

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Acute Coronary Syndrome With or Without Heterozygous Familial Hypercholesterolemia.
 

Author(s): Shin-Ichiro Miura

Journal: Int Heart J. 2017 02;58(1):1-2.

 

Last Updated: 23 Jan 2017

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

Translational Research for Improving the Care of Familial Hypercholesterolemia: The "Ten Countries Study" and Beyond.
 

Author(s): Gerald F Watts, Phillip Ya Ding, Peter George, Martin S Hagger, Miao Hu, Jie Lin, Kah Lin Khoo, A David Marais, Takashi Miida, Hapizah M Nawawi, Jing Pang, Jeong Euy Park, Lourdes B Gonzalez-Santos, Ta-Chen Su, Thanh Huong Truong, Raul D Santos, Handrean Soran, Shizuya Yamashita, Brian Tomlinson,

Journal: J. Atheroscler. Thromb.. 2016 Aug;23(8):891-900.

 

Familial hypercholesterolemia (FH) is the most common and serious form of inherited hyperlipidaemia. Dominantly inherited with high penetrance, untreated FH leads to premature death from coronary artery disease due to accelerated atherosclerosis from birth. Despite its importance, ...

Last Updated: 1 Aug 2016

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My Approach to the Patient With Familial Hypercholesterolemia.
 

Author(s): Maya S Safarova, Iftikhar J Kullo

Journal: Mayo Clin. Proc.. 2016 Jun;91(6):770-86.

 

Familial hypercholesterolemia (FH), a relatively common Mendelian genetic disorder, is associated with a dramatically increased lifetime risk of premature atherosclerotic cardiovascular disease due to elevated plasma low-density lipoprotein cholesterol (LDL-C) levels. The diagnosis ...

Last Updated: 5 Jun 2016

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Familial Hypercholesterolemia in Asian Populations.
 

Author(s): Mengge Zhou, Dong Zhao

Journal: J. Atheroscler. Thromb.. 2016 May;23(5):539-49.

 

Familial hypercholesterolemia (FH) is the most common autosomal disorder characterized by an elevated low-density lipoprotein-cholesterol level and a high risk of premature cardiovascular disease. In this review, we summarize information on FH studies in Asian countries, focusing ...

Last Updated: 6 May 2016

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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: 27 Mar 2017

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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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