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Hypotriglyceridemia

MedGen UID:
488913
Concept ID:
C0542037
Disease or Syndrome
Synonyms: Decreased circulating Tg levels; Decreased plasma Tg levels; Low blood triglyceride levels
 
HPO: HP:0012153

Definition

An decrease in the level of triglycerides in the blood. [from HPO]

Conditions with this feature

Chylomicron retention disease
MedGen UID:
208651
Concept ID:
C0795956
Disease or Syndrome
Chylomicron retention disease (CMRD), characterized by the inability to secrete chylomicrons from the enterocytes following the ingestion of fat, typically presents in infancy with failure to thrive, diarrhea, vomiting, abdominal distention, and malabsorption of fat. This leads to steatorrhea – the severity of which relates to the fat content of the diet – and in some cases, hepatomegaly. Organ systems outside of the gastrointestinal tract may also be affected (often due to malnutrition and deficiencies of fat-soluble vitamins), including neuromuscular abnormalities (typically in the first or second decade of life) secondary to vitamin E deficiency, poor bone mineralization and delayed bone maturation due to vitamin D deficiency, prolonged international normalized ratio (INR) due to vitamin K deficiency, mild ophthalmologic issues (e.g., micronystagmus, delayed dark adaptation, abnormal visual evoked potentials, and abnormal scotopic electroretinograms), and (in a small proportion of adults) cardiomyopathy with decreased ejection fraction. Affected individuals typically have marked hypocholesterolemia, low plasma apolipoprotein B levels, normal-to-low plasma triglyceride levels, and low serum concentrations of fat-soluble vitamins (A, D, E, and K). Endoscopy typically demonstrates a gelée blanche ("white hoar frosting") appearance of the duodenal mucosa.
Hereditary sensory and autonomic neuropathy with spastic paraplegia
MedGen UID:
342492
Concept ID:
C1850395
Disease or Syndrome
This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.
Familial hypobetalipoproteinemia 2
MedGen UID:
341895
Concept ID:
C1857970
Disease or Syndrome
Hypobetalipoproteinemia (HBL) is defined as permanently low levels, below the 5th percentile of sex- and age-matched individuals in the population, of apolipoprotein B (apoB), total cholesterol, and low-density lipoprotein (LDL) cholesterol; the lipid profile in FHBL2 includes low HDL cholesterol as well. HBL can result from environmental factors such as a strict vegetarian diet, or can be secondary to certain diseases such as intestinal fat malabsorption, chronic pancreatitis, severe liver disease, malnutrition, or hyperthyroidism. Heritable primary causes of HBL include chylomicron retention disease (CMRD; 246700), abetalipoproteinemia (200100), and familial hypobetalipoproteinemia (FHBL) (summary by Martin-Campos et al., 2012). For a discussion of genetic heterogeneity of familial hypobetalipoproteinemia, see FHBL1 (615558).
Apolipoprotein c-III deficiency
MedGen UID:
462817
Concept ID:
C3151467
Disease or Syndrome
Congenital disorder of glycosylation, type iit
MedGen UID:
1709627
Concept ID:
C5394387
Disease or Syndrome
Congenital disorder of glycosylation type IIt (CDG2t) is an autosomal recessive multisystemic metabolic disorder characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities. Most patients develop early-onset seizures; brain imaging tends to show white matter abnormalities. Variable dysmorphic features, including long face, almond-shaped eyes, protruding maxilla, and short philtrum, are also present. The disorder, which is associated with low levels of HDL cholesterol, results from defective posttranslational O-linked glycosylation of certain plasma lipids and proteins (summary by Zilmer et al., 2020). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).
Familial apolipoprotein gene cluster deletion syndrome
MedGen UID:
1824091
Concept ID:
C5774318
Disease or Syndrome
Apolipoprotein (apo) A-I is the major protein of HDL cholesterol, whereas apoC-III and apoA-IV are minor components. The genes coding for apoA-I, apoC-III, and apoA-IV are adjacent to one another on the long arm of chromosome 11. Familial apolipoprotein gene cluster deletion syndrome has been described in 1 family and found to be a homozygous deletion of the entire APOA1/C3/A4 gene complex. This results in a lack of expression of these plasma lipoproteins, with marked HDL-C deficiency in the homozygote and approximately half-normal levels of these apolipoproteins and HDL-C in the heterozygotes.

Professional guidelines

PubMed

Woo SK, Kang HS
Med Sci Sports Exerc 2004 Jun;36(6):955-9. doi: 10.1249/01.mss.0000128200.38372.82. PMID: 15179164
Rogozea R, Florea-Ciocoiu V, Balaita C, Luca N
Acta Neurol Belg 1981 Jan-Feb;81(1):24-32. PMID: 7223355

Recent clinical studies

Etiology

Martínez-Hervás S, Real-Collado JT, Ascaso-Gimilio JF
Clin Investig Arterioscler 2021 May;33 Suppl 2:63-68. doi: 10.1016/j.arteri.2020.12.011. PMID: 34006356
Treviño-Villarreal JH, Reynolds JS, Bartelt A, Langston PK, MacArthur MR, Arduini A, Tosti V, Veronese N, Bertozzi B, Brace LE, Mejia P, Trocha K, Kajitani GS, Longchamp A, Harputlugil E, Gathungu R, Bird SS, Bullock AD, Figenshau RS, Andriole GL, Thompson A, Heeren J, Ozaki CK, Kristal BS, Fontana L, Mitchell JR
JCI Insight 2018 Nov 2;3(21) doi: 10.1172/jci.insight.99470. PMID: 30385734Free PMC Article
Boemeke L, Bassani L, Marroni CA, Gottschall CB
Arq Bras Cir Dig 2015 Apr-Jun;28(2):132-5. doi: 10.1590/S0102-67202015000200012. PMID: 26176252Free PMC Article
Dollet L, Magré J, Cariou B, Prieur X
Biochimie 2014 Jan;96:166-72. Epub 2013 Jul 2 doi: 10.1016/j.biochi.2013.06.022. PMID: 23831461
Kuo YH, Chuang TW, Hung CH, Chen CH, Wang JH, Hu TH, Lu SN, Lee CM
J Formos Med Assoc 2011 Jun;110(6):363-71. doi: 10.1016/S0929-6646(11)60054-5. PMID: 21741004

Diagnosis

Rodríguez de Vera-Gómez P, Del Pino-Bellido P, García-González JJ, Sánchez-Jiménez F, Oliva-Rodríguez R, Arrobas-Velilla T, Martínez-Brocca MA
J Clin Lipidol 2022 Sep-Oct;16(5):601-607. Epub 2022 Jul 21 doi: 10.1016/j.jacl.2022.07.008. PMID: 35918255
Martínez-Hervás S, Real-Collado JT, Ascaso-Gimilio JF
Clin Investig Arterioscler 2021 May;33 Suppl 2:63-68. doi: 10.1016/j.arteri.2020.12.011. PMID: 34006356
Di Filippo M, Collardeau Frachon S, Janin A, Rajan S, Marmontel O, Decourt C, Rubio A, Nony S, Dumont S, Cuerq C, Charrière S, Moulin P, Lachaux A, Hussain MM, Bozon D, Peretti N
Atherosclerosis 2019 May;284:75-82. Epub 2019 Mar 3 doi: 10.1016/j.atherosclerosis.2019.02.016. PMID: 30875496
Palacios-Verdú MG, Segura-Puimedon M, Borralleras C, Flores R, Del Campo M, Campuzano V, Pérez-Jurado LA
J Med Genet 2015 Apr;52(4):248-55. Epub 2015 Feb 6 doi: 10.1136/jmedgenet-2014-102713. PMID: 25663682
Vigil-De Gracia P
Int J Gynaecol Obstet 2001 Jun;73(3):215-20. doi: 10.1016/s0020-7292(01)00364-2. PMID: 11376667

Therapy

Treviño-Villarreal JH, Reynolds JS, Bartelt A, Langston PK, MacArthur MR, Arduini A, Tosti V, Veronese N, Bertozzi B, Brace LE, Mejia P, Trocha K, Kajitani GS, Longchamp A, Harputlugil E, Gathungu R, Bird SS, Bullock AD, Figenshau RS, Andriole GL, Thompson A, Heeren J, Ozaki CK, Kristal BS, Fontana L, Mitchell JR
JCI Insight 2018 Nov 2;3(21) doi: 10.1172/jci.insight.99470. PMID: 30385734Free PMC Article
Shimizu K, Ogura H, Wasa M, Hirose T, Shimazu T, Nagasaka H, Hirano K
Nutrition 2014 Sep;30(9):1090-2. Epub 2014 Feb 15 doi: 10.1016/j.nut.2014.01.007. PMID: 24927630
Bellou E, Siopi A, Galani M, Maraki M, Tsekouras YE, Panagiotakos DB, Kavouras SA, Magkos F, Sidossis LS
Med Sci Sports Exerc 2013 Mar;45(3):455-61. doi: 10.1249/MSS.0b013e318278183e. PMID: 23073216Free PMC Article
Kuo YH, Chuang TW, Hung CH, Chen CH, Wang JH, Hu TH, Lu SN, Lee CM
J Formos Med Assoc 2011 Jun;110(6):363-71. doi: 10.1016/S0929-6646(11)60054-5. PMID: 21741004
Magkos F, Wright DC, Patterson BW, Mohammed BS, Mittendorfer B
Am J Physiol Endocrinol Metab 2006 Feb;290(2):E355-62. Epub 2005 Oct 11 doi: 10.1152/ajpendo.00259.2005. PMID: 16219668

Prognosis

Liang J, Yi X, Xue M, Chen X, Huang X, Sun Q, Wang T, Zhao C, Yang Y, Gao J, Zhou J, Fan J, Yu M
J Clin Lab Anal 2020 May;34(5):e23192. Epub 2020 Jan 24 doi: 10.1002/jcla.23192. PMID: 31981248Free PMC Article
Di Filippo M, Collardeau Frachon S, Janin A, Rajan S, Marmontel O, Decourt C, Rubio A, Nony S, Dumont S, Cuerq C, Charrière S, Moulin P, Lachaux A, Hussain MM, Bozon D, Peretti N
Atherosclerosis 2019 May;284:75-82. Epub 2019 Mar 3 doi: 10.1016/j.atherosclerosis.2019.02.016. PMID: 30875496
Boemeke L, Bassani L, Marroni CA, Gottschall CB
Arq Bras Cir Dig 2015 Apr-Jun;28(2):132-5. doi: 10.1590/S0102-67202015000200012. PMID: 26176252Free PMC Article
Shimizu K, Ogura H, Wasa M, Hirose T, Shimazu T, Nagasaka H, Hirano K
Nutrition 2014 Sep;30(9):1090-2. Epub 2014 Feb 15 doi: 10.1016/j.nut.2014.01.007. PMID: 24927630
Woo SK, Kang HS
Med Sci Sports Exerc 2004 Jun;36(6):955-9. doi: 10.1249/01.mss.0000128200.38372.82. PMID: 15179164

Clinical prediction guides

Suzuki Y, Sugai T, Fukui N, Watanabe J, Ono S, Tsuneyama N, Saito M, Someya T
Psychiatry Clin Neurosci 2014 Jan;68(1):78-82. Epub 2013 Sep 2 doi: 10.1111/pcn.12082. PMID: 23992354
Troina AA, Figueiredo MS, Passos MC, Reis AM, Oliveira E, Lisboa PC, Moura EG
Food Chem Toxicol 2012 Jul;50(7):2388-96. Epub 2012 May 4 doi: 10.1016/j.fct.2012.04.040. PMID: 22565278
Yao Z, Wang Y
Curr Opin Lipidol 2012 Jun;23(3):206-212. doi: 10.1097/MOL.0b013e328352dc70. PMID: 22510806
Sundaram M, Zhong S, Bou Khalil M, Zhou H, Jiang ZG, Zhao Y, Iqbal J, Hussain MM, Figeys D, Wang Y, Yao Z
J Lipid Res 2010 Jun;51(6):1524-34. Epub 2010 Jan 23 doi: 10.1194/jlr.M005108. PMID: 20097930Free PMC Article
Woo SK, Kang HS
Med Sci Sports Exerc 2004 Jun;36(6):955-9. doi: 10.1249/01.mss.0000128200.38372.82. PMID: 15179164

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