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

Overexpression of tissue-nonspecific alkaline phosphatase (TNAP) in endothelial cells accelerates coronary artery disease in a mouse model of familial hypercholesterolemia.
 

Author(s): Filippo Romanelli, AnthonyMarco Corbo, Maryam Salehi, Manisha C Yadav, Soha Salman, David Petrosian, Omid J Rashidbaigi, Jesse Chait, Jes Kuruvilla, Maria Plummer, Ilian Radichev, Kenneth B Margulies, A Martin Gerdes, Anthony B Pinkerton, José Luis Millán, Alexei Y Savinov, Olga V Savinova

Journal:

 

Overexpression of tissue-nonspecific alkaline phosphatase (TNAP) in endothelium leads to arterial calcification in mice. The purpose of this study was to examine the effect of elevated endothelial TNAP on coronary atherosclerosis. In addition, we aimed to examine endogenous TNAP activity ...

Last Updated: 12 Oct 2017

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Assessment of physicians' awareness and knowledge of familial hypercholesterolemia in Saudi Arabia: Is there a gap?
 

Author(s): Mohammed Ali Batais, Turky H Almigbal, Aref A Bin Abdulhak, Hani B Altaradi, Khalid F AlHabib

Journal:

 

The scarcity of familial hypercholesterolemia (FH) cases reported in Saudi Arabia might be indicative of a lack of awareness of this common genetic disease among physicians.

Last Updated: 17 Aug 2017

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Xanthomas in Familial Hypercholesterolemia.
 

Author(s): Amitabh Poonia, Priya Giridhara

Journal: N. Engl. J. Med.. 2017 Aug;377(5):e7.

 

Last Updated: 2 Aug 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 49 free, full-text review articles on human participants. First 3 results:

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: 18 Sep 2017

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Familial hypercholesterolemia in the Czech Republic: more than 17 years of systematic screening within the MedPed project.
 

Author(s): M Vrablík, M Vaclová, L Tichý, V Soška, V Bláha, L Fajkusová, R Češka, M Šatný, T Freiberger

Journal: Physiol Res. 2017 Apr;66(Supplementum 1):S1-S9.

 

Familial hypercholesterolemia (FH) is the most common autosomal dominant disorder. It is characterized by a decrease in LDL cholesterol catabolism and an early clinical manifestation of atherosclerotic vessel damage. The aim of the MedPed (Make early diagnosis to Prevent early deaths) ...

Last Updated: 5 Apr 2017

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[Treatment with statins in children with familial hypercholesterolemia].
 

Author(s): Ewa Kamińska, Matylda Hennig, Agnieszka Brandt, Joanna Bautembach Minkowska, Małgorzata Myśliwiec

Journal: Dev Period Med. ;20(4):328-334.

 

Children with familial hypercholesterolemia have very high total cholesterol and LDL-cholesterol levels in blood which may result in endothelial dysfunction and increase in carotid intima-media thickness. When untreated in childhood, familial hypercholesterolemia is associated with ...

Last Updated: 20 Feb 2017

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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: 26 Sep 2017

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Russian Familial Hypercholesterolemia Registry
 

Status: Recruiting

Condition Summary: Familial Hypercholesterolemia

 

Last Updated: 29 Apr 2017

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