Familial Hypercholesterolemia

Common Name(s)

Familial Hypercholesterolemia

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: 22 Apr 2014

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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: 22 Apr 2014

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

Homozygous familial hypercholesterolemia.
 

Author(s): M K Alicezah, R Razali, T Rahman, B P Hoh, N H Suhana, S Muid, H M Nawawi, M Koshy

Journal: Malays J Pathol. 2014 Aug;36(2):131-7.

 

We report a rare case of homozygous familial hypercholesterolemia (HoFH), a 22-year-old Malay woman who presented initially with minor soft tissue injury due to a cycling accident. She was then incidentally found to have severe xanthelasma and hypercholesterolemia (serum TC 15.3 mmol/L ...

Last Updated: 8 Sep 2014

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Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.
 

Author(s): Tatiana Yu Komarova, Victoria A Korneva, Tatiana Yu Kuznetsova, Alexandra S Golovina, Vadim B Vasilyev, Michail Yu Mandelshtam

Journal:

 

Familial hypercholesterolemia (FH) is a human monogenic disease induced by a variety of mutations with striking genetic diversity. Despite this variability recurrent mutations occur in each population studied, which allows both elucidating prevalent mutations and developing DNA diagnostic ...

Last Updated: 2 Jan 2014

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Familial hypercholesterolemia.
 

Author(s): Tamio Teramoto, Jun Sasaki, Shun Ishibashi, Sadatoshi Birou, Hiroyuki Daida, Seitaro Dohi, Genshi Egusa, Takafumi Hiro, Kazuhiko Hirobe, Mami Iida, Shinji Kihara, Makoto Kinoshita, Chizuko Maruyama, Takao Ohta, Tomonori Okamura, Shizuya Yamashita, Masayuki Yokode, Koutaro Yokote, Mariko Harada-Shiba, Hidenori Arai, Hideaki Bujo, Atsushi Nohara, Takao Ohta, Shinichi Oikawa, Tomoo Okada, Akihiko Wakatsuki

Journal: J. Atheroscler. Thromb.. 2014 Jan;21(1):6-10.

 

Last Updated: 23 Jan 2014

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

Inhibition of hepatic microsomal triglyceride transfer protein - a novel therapeutic option for treatment of homozygous familial hypercholesterolemia.
 

Author(s): Alpo Vuorio, Matti J Tikkanen, Petri T Kovanen

Journal:

 

Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the low-density lipoprotein (LDL)-receptor gene (LDLR). Patients with homozygous FH (hoFH) have inherited a mutated LDLR gene from both parents, and therefore all their LDL-receptors are incapable ...

Last Updated: 22 May 2014

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Management of familial hypercholesterolemia: a review of the recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.
 

Author(s): Jennifer G Robinson

Journal: J Manag Care Pharm. 2013 Mar;19(2):139-49.

 

Familial hypercholesterolemia (FH) is a genetic disorder of lipid metabolism that is characterized by a significant elevation in levels of low-density lipoprotein cholesterol (LDL-C), and patients are at very high risk for premature coronary heart disease (CHD). The etiology of FH ...

Last Updated: 6 Mar 2013

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Mipomersen and other therapies for the treatment of severe familial hypercholesterolemia.
 

Author(s): Damon A Bell, Amanda J Hooper, Gerald F Watts, John R Burnett

Journal: Vasc Health Risk Manag. 2012 ;8():651-9.

 

Familial hypercholesterolemia (FH) is an autosomal dominant condition with a population prevalence of one in 300-500 (heterozygous) that is characterized by high levels of low-density lipoprotein (LDL) cholesterol, tendon xanthomata, and premature atherosclerosis and coronary heart ...

Last Updated: 11 Dec 2012

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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: 8 Aug 2014

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Postprandial Lipid Metabolism in Familial Hypercholesterolaemia:Effects of Fish Oils
 

Status: Not yet recruiting

Condition Summary: Hypertriglyceridaemia; Familial Hypercholesterolaemia

 

Last Updated: 11 Apr 2012

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