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

Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
 

Author(s): David S Wald, Jonathan P Bestwick, Joan K Morris, Ken Whyte, Lucy Jenkins, Nicholas J Wald

Journal: N. Engl. J. Med.. 2016 Oct;375(17):1628-1637.

 

Background Child-parent screening for familial hypercholesterolemia has been proposed to identify persons at high risk for inherited premature cardiovascular disease. We assessed the efficacy and feasibility of such screening in primary care practice. Methods We obtained capillary ...

Last Updated: 26 Oct 2016

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LOWER, a registry of lomitapide-treated patients with homozygous familial hypercholesterolemia: Rationale and design.
 

Author(s): Dirk J Blom, Zahi A Fayad, John J P Kastelein, Dominique Larrey, Lukas Makris, Charles Schwamlein, LeAnne Bloeden, James Underberg,

Journal: J Clin Lipidol. ;10(2):273-82.

 

Lomitapide is an orally active selective inhibitor of microsomal triglyceride transfer protein approved as adjunctive therapy for homozygous familial hypercholesterolemia (HoFH). The Lomitapide Observational Worldwide Evaluation Registry (LOWER) is a global, long-term, prospective, ...

Last Updated: 8 Apr 2016

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Changes in lipoprotein lipase and endothelial lipase mass in familial hypercholesterolemia during three-drug lipid-lowering combination therapy.
 

Author(s): Hayato Tada, Junji Kobayashi, Masa-Aki Kawashiri, Kazuya Miyashita, Atsushi Nohara, Akihiro Inazu, Katsuyuki Nakajima, Hiroshi Mabuchi, Masakazu Yamagishi

Journal:

 

This study was performed to compare the effects of three different lipid-lowering therapies (statins, ezetimibe, and colestimide) on lipoprotein lipase and endothelial lipase masses in pre-heparin plasma (pre-heparin LPL and EL mass, respectively) from patients with familial hypercholesterolemia ...

Last Updated: 4 Apr 2016

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

Familial hypercholesterolemia: Review of diagnosis, screening, and treatment.
 

Author(s): Ricky D Turgeon, Arden R Barry, Glen J Pearson

Journal: Can Fam Physician. 2016 Jan;62(1):32-7.

 

To summarize the pathophysiology, epidemiology, screening, diagnosis, and treatment of familial hypercholesterolemia (FH).

Last Updated: 22 Jan 2016

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The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association.
 

Author(s): Samuel S Gidding, Mary Ann Champagne, Sarah D de Ferranti, Joep Defesche, Matthew K Ito, Joshua W Knowles, Brian McCrindle, Frederick Raal, Daniel Rader, Raul D Santos, Maria Lopes-Virella, Gerald F Watts, Anthony S Wierzbicki,

Journal: Circulation. 2015 Dec;132(22):2167-92.

 

Last Updated: 1 Dec 2015

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New Approaches in Detection and Treatment of Familial Hypercholesterolemia.
 

Author(s): Merel L Hartgers, Kausik K Ray, G Kees Hovingh

Journal: Curr Cardiol Rep. 2015 Dec;17(12):109.

 

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that clinically leads to increased low density lipoprotein-cholesterol (LDL-C) levels. As a consequence, FH patients are at high risk for cardiovascular disease (CVD). Mutations are found in genes coding ...

Last Updated: 20 Oct 2015

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Symptoms, Diagnosis, and Treatment

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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: 9 Aug 2016

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MYOCARDIAL SILENT INFARCTIONS AND FIBROSIS IN FAMILIAL HYPERCHOLESTEROLEMIA (CHOLCOEUR)
 

Status: Recruiting

Condition Summary: Familial Hypercholesterolemia - Heterozygous

 

Last Updated: 4 Aug 2015

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