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

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial Hypercholesterolemia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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

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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[Tendinous and tuberous xanthomas revealing familial hypercholesterolemia].
 

Author(s): Wafae Raffas, Badreddine Hassam

Journal:

 

Last Updated: 9 Oct 2013

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For patients who inherit homozygous familial hypercholesterolemia, 2 new treatments available.
 

Author(s): Thomas Morrow

Journal: Manag Care. 2013 Mar;22(3):47-8.

 

Last Updated: 24 Apr 2013

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

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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Homozygous familial hypercholesterolemia: case report of a rare cause of dyslipidemia.
 

Author(s): Cresio Alves, Zilda Braid

Journal: Pediatr Endocrinol Diabetes Metab. 2011 ;17(3):162-5.

 

A 4-year-old boy was evaluated for severe hypercholesterolemia (cholesterol: 831 mg/dL) and disseminated xanthomas. Both parents had hypercholesterolemia: mother (cholesterol: 308 mg/dL) and father (cholesterol: 281 mg/dL). There was no family history of cardiovascular disease. Skin ...

Last Updated: 26 Oct 2011

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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: 8 Dec 2013

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The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository
 

Status: Recruiting

Condition Summary: Homozygous Familial Hypercholesterolemia

 

Last Updated: 8 Nov 2013

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A 52 Week Study To Assess The Use Of RN316 (PF-04950615) In Subjects With Heterozygous Familial Hypercholesterolemia
 

Status: Recruiting

Condition Summary: Heterozygous Familial Hypercholesterolemia

 

Last Updated: 9 Apr 2014

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