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

A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family.
 

Author(s): Hongyan Shu, Jingwei Chi, Jing Li, Wei Zhang, Wenshan Lv, Jie Wang, Yujie Deng, Xu Hou, Yangang Wang

Journal:

 

Familial hypercholesterolemia (FH) is an inherited disorder characterized by elevation of serum cholesterol bound to low-density lipoprotein. Mutations in LDLR are the major factors responsible for FH. In this study, we recruited a four-generation Chinese family with FH and identified ...

Last Updated: 31 Dec 1969

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Identifying undiagnosed or undertreated patients with familial hypercholesterolemia from the laboratory records of a tertiary medical center.
 

Author(s): Cem Haymana, Hamza Berlik, Yalçın Güneş, Orhan Enes Tunçez, Cihat Aytekin, Zafer Tapıkara, Hüseyin Güzel, Özlem Öztürk, Cem Barçın, Taner Özgürtaş, Ömer Azal, Alper Sönmez

Journal: Turk Kardiyol Dern Ars. 2017 Dec;45(8):731-738.

 

Familial hypercholesterolemia (FH) is a life-threatening genetic disease associated with elevated low-density lipoprotein cholesterol (LDL-C) and premature coronary heart disease that is undiagnosed and undertreated around the world. This study aimed to examine the demographic characteristics, ...

Last Updated: 31 Dec 1969

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Ezetimibe Use and LDL-C Goal Achievement: A Retrospective Database Analysis of Patients with Clinical Atherosclerotic Cardiovascular Disease or Probable Heterozygous Familial Hypercholesterolemia.
 

Author(s): Joseph Menzin, Jyoti Aggarwal, Brian Boatman, Jeffrey Yu, Kevin Stern, David J Harrison, Jeetvan G Patel

Journal: J Manag Care Spec Pharm. 2017 Dec;23(12):1270-1276.

 

Ezetimibe is recommended by clinical practice guidelines as a second-line therapy for lowering low-density lipoprotein cholesterol (LDL-C) levels, but little is known about its use and effectiveness in real-world populations.

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:

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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