Familial hypertriglyceridemia

Common Name(s)

Familial hypertriglyceridemia, Hyperlipoprolinemia type 4

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 ({9: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.
 

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Condition Specific Organizations

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

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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 hypertriglyceridemia" returned 10 free, full-text research articles on human participants. First 3 results:

Familial hypertriglyceridemia manifests with pancytopenia and bone marrow pseudo–Niemann-Pick cells.
 

Author(s): Jose D Sandoval-Sus, Ling Zhang

Journal: Blood. 2016 Feb;127(6):787.

 

Last Updated: 31 Dec 1969

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[Familial hypertriglyceridemia: biochemical, clinical and molecular study in a Moroccan family].
 

Author(s): Mounya Bouabdellah, Hinde Iraqi, Pascale Benlian, Ikram Berqia, Laila Benchekroun, Abdelmjid Chraïbi, Layachi Chabraoui

Journal: Ann. Biol. Clin. (Paris). ;73(4):474-84.

 

Familial hypertriglyceridemia is a rare autosomal recessive inborn error of metabolism. Mutation within the LPL gene constitutes the first cause of monogenic etiology. Lipoprotein lipase (LPL) is the key enzyme in triglyceride-rich lipoproteins catabolism. Familial LPL deficiency ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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 hypertriglyceridemia" returned 1 free, full-text review articles on human participants. First 3 results:

Case of familial hyperlipoproteinemia type III hypertriglyceridemia induced acute pancreatitis: Role for outpatient apheresis maintenance therapy.
 

Author(s): Mohannad Abou Saleh, Emad Mansoor, Gregory S Cooper

Journal: World J. Gastroenterol.. 2017 Oct;23(40):7332-7336.

 

Hypertriglyceridemic pancreatitis (HTGP) accounts for up to 10% of acute pancreatitis presentations in non-pregnant individuals and is the third most common cause of acute pancreatitis after alcohol and gallstones. There are a number of retrospective studies and case reports that ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Milk as a Recovery Beverage After Exercise for Improving Metabolic Health
 

Status: Recruiting

Condition Summary: Hyperlipemia, Carbohydrate Inducible

 

Last Updated: 27 Jun 2018

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Study of Gemcabene in Adults With FPLD
 

Status: Recruiting

Condition Summary: Familial Partial Lipodystrophy; Hypertriglyceridemia; Fatty Liver; NASH - Nonalcoholic Steatohepatitis

 

Last Updated: 21 Apr 2018

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