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

Universal Screening for Familial Hypercholesterolemia in Children.
 

Author(s): Gašper Klančar, Urh Grošelj, Jernej Kovač, Nevenka Bratanič, Nataša Bratina, Katarina Trebušak Podkrajšek, Tadej Battelino

Journal: J. Am. Coll. Cardiol.. 2015 Sep;66(11):1250-7.

 

Individuals with familial hypercholesterolemia (FH) who are untreated have up to 100-fold elevated risk for cardiovascular complications compared with those who are unaffected. Data for identification of FH with a universal screening for hypercholesterolemia in children are lacking.

Last Updated: 12 Sep 2015

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[Increased mortality in familial hypercholesterolemia].
 

Author(s): Liv Mundal, Mirza Sarancic, Leiv Ose, Per Ole Iversen, Jens-Kristian Borgan, Marit B Veierød, Trond P Leren, Kjetil Retterstøl

Journal:

 

Last Updated: 17 Jun 2015

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[Editorial. Familial hypercholesterolemia].
 

Author(s): Meral Kayikçioğlu

Journal: Turk Kardiyol Dern Ars. 2014 Oct;42 Suppl 2():vii.

 

Last Updated: 19 Feb 2015

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

[Homozygous familial hypercholesterolemia].
 

Author(s): Meral Kayikçioğlu

Journal: Turk Kardiyol Dern Ars. 2014 Oct;42 Suppl 2():47-55.

 

Familial hypercholesterolemia (FH) is caused by genetic deficiency of LDL receptors leading to extremely high cholesterol levels and atherosclerosis at early ages. For the prevention of early atherosclerotic cardiovascular events, effective reduction of LDL-cholesterol is necessary ...

Last Updated: 19 Feb 2015

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[LDL apheresis in the treatment of familial hypercholesterolemia].
 

Author(s): Mahmut Coker

Journal: Turk Kardiyol Dern Ars. 2014 Oct;42 Suppl 2():32-46.

 

Low density lipoprotein (LDL) apheresis is one of the main therapeutic models for homozygous and severe heterozygous form of the familial hypercholesterolemia patients. Anti-atherogenic, anti-thrombogenic and anti-inflammatory effects of apheresis has positive effects on prevention ...

Last Updated: 19 Feb 2015

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[Homozygous familial hypercholesterolemia].
 

Author(s): Meral Kaylkçioğlu

Journal: Turk Kardiyol Dern Ars. 2014 Oct;42 Suppl 2():19-31.

 

Familiar hypercholesterolemia (FH) is genetic disease characterized with extremely high levels of cholesterol leading to cholesterol deposition in skin and tissues and premature atherosclerosis due to defective LDL receptors. In homozygous individuals (HoFH) premature cardiovascular ...

Last Updated: 19 Feb 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Familial Hypercholesterolemia Canada / Hypercholesterolemie Familiale Canada
 

Status: Recruiting

Condition Summary: Familial Hypercholesterolemia; Lipid Disorder

 

Last Updated: 20 Jun 2014

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Russian Familial Hypercholesterolemia Registry
 

Status: Recruiting

Condition Summary: Familial Hypercholesterolemia

 

Last Updated: 12 May 2015

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