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

Estimated costs of hospitalization due to coronary artery disease attributable to familial hypercholesterolemia in the Brazilian public health system.
 

Author(s): Luciana R Bahia, Roger S Rosa, Raul D Santos, Denizar V Araujo

Journal: Arch Endocrinol Metab. 2018 Jun;62(3):303-308.

 

Cardiovascular diseases are the leading cause of death in Brazil, imposing substantial economic burden on the health care system. Familial hypercholesterolemia (FH) is known to greatly increase the risk of premature coronary artery disease (CAD). This study aimed to estimate the economic ...

Last Updated: 31 Dec 1969

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LDL Receptor Gene-ablated Hamsters: A Rodent Model of Familial Hypercholesterolemia With Dominant Inheritance and Diet-induced Coronary Atherosclerosis.
 

Author(s): Xin Guo, Mingming Gao, Yunan Wang, Xiao Lin, Liu Yang, Nathan Cong, Xiangbo An, Feng Wang, Kai Qu, Liqing Yu, Yuhui Wang, Jinjie Wang, Haibo Zhu, Xunde Xian, George Liu

Journal: EBioMedicine. 2018 Jan;27():214-224.

 

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease caused mainly by LDL receptor (Ldlr) gene mutations. Unlike FH patients, heterozygous Ldlr knockout (KO) mice do not show a dominant FH trait. Hamsters, like humans, have the cholesteryl ester transfer protein, ...

Last Updated: 31 Dec 1969

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An insight into familial hypercholesterolemia in Greece: rationale and design of the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH).
 

Author(s): Christos V Rizos, Vasilios Athyros, Eleni Bilianou, George Chrousos, Anastasia Garoufi, Genovefa Kolovou, Vasilios Kotsis, Loukianos Rallidis, Emmanouel Skalidis, Ioannis Skoumas, Konstantinos Tziomalos, Evangelos N Liberopoulos

Journal: Hormones (Athens). 2017 07;16(3):200-204.

 

Familial hypercholesterolemia (FH) is the most common metabolic genetic disorder. It is estimated that around 13 million people worldwide have FH. At the same time, only 25% of FH patients have been diagnosed. Moreover, these patients are often undertreated. The true prevalence of ...

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

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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Anti-PCSK9 antibodies for the treatment of heterozygous familial hypercholesterolemia: patient selection and perspectives.
 

Author(s): Alberico Luigi Catapano, Angela Pirillo, Giuseppe Danilo Norata

Journal:

 

Heterozygous familial hypercholesterolemia (FH) is a genetic disorder characterized by high low-density lipoprotein cholesterol levels from birth, which exposes the arteries to high levels of atherogenic lipoproteins lifelong and results in a significantly increased risk of premature ...

Last Updated: 31 Dec 1969

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The Cost-effectiveness of Genetic Screening for Familial Hypercholesterolemia: a Systematic Review.
 

Author(s): A Rosso, E Pitini, E D'Andrea, A Massimi, C De Vito, C Marzuillo, P Villari

Journal: Ann Ig. ;29(5):464-480.

 

Familial hypercholesterolemia (FH) is a genetic disorder that leads to elevated plasma LDL-cholesterol levels and premature coronary heart disease (CHD). An understanding of the mutations responsible for FH and the effectiveness of statins in lowering the risk of CHD in FH patients ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Registration Study for Familial Hypercholesterolemia in Taiwan
 

Status: Recruiting

Condition Summary: Familial Hypercholesterolemia

 

Last Updated: 11 May 2017

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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 Apr 2018

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