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 436 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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Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia.
 

Author(s): Ingrid Brænne, Benedikt Reiz, Anja Medack, Mariana Kleinecke, Marcus Fischer, Salih Tuna, Christian Hengstenberg, Panos Deloukas, Jeanette Erdmann, Heribert Schunkert,

Journal:

 

Familial hypercholesterolemia (FH) is an autosomal-dominant disease leading to markedly elevated low-density lipoprotein (LDL) cholesterol levels and increased risk for premature myocardial infarction (MI). Mutation carriers display variable LDL cholesterol levels, which may obscure ...

Last Updated: 4 Sep 2014

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Familial hypercholesterolemia--screening to facilitate early prevention.
 

Author(s): Klaus G Parhofer

Journal: Dtsch Arztebl Int. 2014 Aug;111(31-32):521-2.

 

Last Updated: 22 Aug 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 21 free, full-text review articles on human participants. First 3 results:

Canadian Cardiovascular Society position statement on familial hypercholesterolemia.
 

Author(s): , Jacques Genest, Robert A Hegele, Jean Bergeron, James Brophy, Andre Carpentier, Patrick Couture, Jean Davignon, Robert Dufour, Jiri Frohlich, Daniel Gaudet, Milan Gupta, Preetha Krisnamoorthy, John Mancini, Brian McCrindle, Paolo Raggi, Isabelle Ruel, Julie St-Pierre

Journal: Can J Cardiol. 2014 Dec;30(12):1471-81.

 

Familial hypercholesterolemia (FH) is the most common genetic disorder causing premature cardiovascular disease and death. Heterozygous FH conservatively affects approximately 1:500 Canadians, and the more serious homozygous form affects approximately 1:1,000,000 Canadians, although ...

Last Updated: 5 Dec 2014

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Familial hypercholesterolemia: developments in diagnosis and treatment.
 

Author(s): Gerald Klose, Ulrich Laufs, Winfried März, Eberhard Windler

Journal: Dtsch Arztebl Int. 2014 Aug;111(31-32):523-9.

 

Familial hypercholesterolemia (FH) is a congenital disorder of lipid metabolism characterized by a marked elevation of the plasma concentration of LDL (low-density lipoprotein) cholesterol beginning in childhood and by the early onset of coronary heart disease. It is among the commonest ...

Last Updated: 22 Aug 2014

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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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Symptoms, Diagnosis, and Treatment

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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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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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