Hyperlipidemia, familial combined

Common Name(s)

Hyperlipidemia, familial combined

{14:Goldstein et al. (1973)} gave the designation 'familial combined hyperlipidemia' to the most common genetic form of hyperlipidemia identified in a study of survivors of myocardial infarction. Affected persons characteristically showed elevation of both cholesterol and triglycerides in the blood. The combined disorder was shown to be distinct from familial hypercholesterolemia ({143890}) and from familial hypertriglyceridemia ({145750}) for the following reasons: (1) lipid distributions in relatives were unique; (2) unlike familial hypercholesterolemia, children of affected persons did not express hypercholesterolemia; and (3) informative matings suggested that variable expression of a single gene rather than segregation for 2 separate genes was responsible. This disorder leads to elevated levels of VLDL, LDL, or both in plasma. From time to time the pattern can change in a given person. Unlike familial hypercholesterolemia, hyperlipidemia appears in only 10 to 20% of patients in childhood, usually in the form of hypertriglyceridemia. Xanthomas are rare. Increased production of VLDL may be a common underlying metabolic characteristic in this disorder, which may be heterogeneous. The disorder may be 5 times as frequent as familial hypercholesterolemia, occurring in 1% of the U.S. population. Using elevation of VLDL, of LDL, or of both as the phenotype in family studies, {14:Goldstein et al. (1973)} and {8:Brunzell et al. (1983)} concluded that familial combined hyperlipidemia is an autosomal dominant with high penetrance. Homozygotes can show severe hypertriglyceridemia ({11:Chait and Brunzell, 1983}). {9:Brunzell et al. (1976)} estimated that 10% of premature coronary artery disease is caused by FCHL.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyperlipidemia, familial combined" 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 "Hyperlipidemia, familial combined" 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

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Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hyperlipidemia, familial combined" returned 0 free, full-text research articles on human participants.

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Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hyperlipidemia, familial combined" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Phase 3 Study to Evaluate the Efficacy and Safety of Omega-3-acids Ethylesters 90 in Type Ⅱb Hyperlipidemia
 

Status: Recruiting

Condition Summary: Hyperlipidemia, Familial Combined

 

Last Updated: 19 Mar 2014

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Last Updated: 31 Oct 2013

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A Pilot Study to Evaluate the Lipid Effects of TRIA-662
 

Status: Recruiting

Condition Summary: Hypertriglyceridemia; Mixed Hyperlipidemia

 

Last Updated: 25 Apr 2014

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