Familial hypertriglyceridemia

Common Name(s)

Familial hypertriglyceridemia

Most individuals with familial hypertriglyceridemia have a hyperlipoproteinemia IV ({144600}) phenotype. Relatives of affected persons (ascertained in a study of survivors of coronary occlusion) were found to have normal cholesterol distribution and bimodal triglyceride distribution ({8:Goldstein et al., 1973}). Hypertriglyceridemia is not completely expressed in affected children. Genetic Heterogeneity of Hypertriglyceridemia Hypertriglyceridemia has many causes but, whatever its cause, there is evidence for its role as a coronary heart disease risk factor. Hypertriglyceridemia is commonly found in individuals with type II diabetes mellitus ({125853}). Several genetic bases for hypertriglyceridemia have been identified. Familial combined hyperlipidemia (HYPLIP1; {602491}) is due to variation in the USF1 gene ({191523}) on chromosome 1q21-q23. Some mutations in the ABCA1 gene ({600046}) caused Tangier disease ({205400}), whereas others caused a mild disorder called type II familial high density lipoprotein deficiency, or hypoalphalipoproteinemia ({604091}). Both disorders are associated with hypertriglyceridemia.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 hypertriglyceridemia" returned 17 free, full-text research articles on human participants. First 3 results:

Premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy and hypertriglyceridemia.
 

Author(s): Masanori Iwanishi, Ken Ebihara, Toru Kusakabe, Shinji Harada, Jun Ito-Kobayashi, Atsushi Tsuji, Kiminori Hosoda, Kazuwa Nakao

Journal: Intern. Med.. 2012 ;51(18):2573-9.

 

We herein report a case of premature atherosclerosis in a patient with familial partial lipodystrophy (FPL), diabetes mellitus, hypertension and hypertriglyceridemia. Sequencing of the candidate genes LMNA, PPARG and CAV1 associated with FPL revealed no genetic abnormalities, which ...

Last Updated: 19 Sep 2012

Go To URL
Hypertriglyceridemia is associated with prebeta-HDL concentrations in subjects with familial low HDL.
 

Author(s): Sanni Söderlund, Aino Soro-Paavonen, Christian Ehnholm, Matti Jauhiainen, Marja-Riitta Taskinen

Journal: J. Lipid Res.. 2005 Aug;46(8):1643-51.

 

Prebeta-HDL particles act as the primary acceptors of cellular cholesterol in reverse cholesterol transport (RCT). An impairment of RCT may be the reason for the increased risk of coronary heart disease (CHD) in subjects with familial low HDL. We studied the levels of serum prebeta-HDL ...

Last Updated: 20 Jul 2005

Go To URL
Genome-wide scan for quantitative trait loci influencing LDL size and plasma triglyceride in familial hypertriglyceridemia.
 

Author(s): Melissa A Austin, Karen L Edwards, Stephanie A Monks, Kent M Koprowicz, John D Brunzell, Arno G Motulsky, Michael C Mahaney, James E Hixson

Journal: J. Lipid Res.. 2003 Nov;44(11):2161-8.

 

Small, dense LDLs and hypertriglyceridemia, two highly correlated and genetically influenced risk factors, are known to predict for risk of coronary heart disease. The objective of this study was to perform a whole-genome scan for linkage to LDL size and triglyceride (TG) levels in ...

Last Updated: 24 Nov 2003

Go To URL

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 hypertriglyceridemia" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Triglyceride Lowering Study
 

Status: Recruiting

Condition Summary: Hypertriglyceridemia

 

Last Updated: 7 Jul 2009

Go to URL
Postprandial Lipid Metabolism in Familial Hypercholesterolaemia:Effects of Fish Oils
 

Status: Not yet recruiting

Condition Summary: Hypertriglyceridaemia; Familial Hypercholesterolaemia

 

Last Updated: 11 Apr 2012

Go to URL
Pilot Study To Assess CAT-2003 in Patients With Chylomicronemia
 

Status: Recruiting

Condition Summary: Lipoprotein Lipase Deficiency, Familial; Hyperlipoproteinemia Type I; Chylomicronemia, Familial; Hypertriglyceridemia

 

Last Updated: 7 Apr 2014

Go to URL