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.

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.

Last Updated: 1 Jun 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

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

Go To URL
ANGPTL3 Inhibition in Homozygous Familial Hypercholesterolemia.
 

Author(s): Daniel Gaudet, Daniel A Gipe, Robert Pordy, Zahid Ahmad, Marina Cuchel, Prediman K Shah, Kuang-Yuh Chyu, William J Sasiela, Kuo-Chen Chan, Diane Brisson, Etienne Khoury, Poulabi Banerjee, Viktoria Gusarova, Jesper Gromada, Neil Stahl, George D Yancopoulos, G Kees Hovingh

Journal: N. Engl. J. Med.. 2017 07;377(3):296-297.

 

Last Updated: 20 Jul 2017

Go To URL
When do paediatric patients with familial hypercholesterolemia need statin therapy?
 

Author(s): Matylda Hennig, Agnieszka Brandt, Joanna Bautembach-Minkowska, Dominik Świętoń, Agnieszka Mickiewicz, Magdalenia Chmara, Bartosz Wasąg, Ewa Kamińska, Anna Balcerska, Janusz Limon, Andrzej Rynkiewicz, Marcin Gruchała, Małgorzata Myśliwiec

Journal: Dev Period Med. ;21(1):43-50.

 

Familial hypercholesterolemia (FH) is one of the most common autosomal dominant disorders. It is characterized by elevated LDL cholesterol levels occurring already by early childhood. Awareness of health risks in FH patients should incite health professionals to actively seek and ...

Last Updated: 28 May 2017

Go To URL

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

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

Go To URL
[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

Go To URL
Half a Century Tales of Familial Hypercholesterolemia (FH) in Japan.
 

Author(s): Hiroshi Mabuchi

Journal: J. Atheroscler. Thromb.. 2017 Mar;24(3):189-207.

 

Familial hypercholesterolemia (FH) is a disease characterized by a triad: elevated low-density lipoprotein (LDL) cholesterol, tendon xanthomas, and premature coronary heart disease. Thus, it can be considered as a model disease for hypercholesterolemia and atherosclerotic cardiovascular ...

Last Updated: 9 Feb 2017

Go To URL
 
 
Top

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

Go to URL
The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository
 

Status: Recruiting

Condition Summary: Homozygous Familial Hypercholesterolemia

 

Last Updated: 27 Mar 2017

Go to URL
Russian Familial Hypercholesterolemia Registry
 

Status: Recruiting

Condition Summary: Familial Hypercholesterolemia

 

Last Updated: 29 Apr 2017

Go to URL