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Hypertriglyceridemia 2(HYTG2)

MedGen UID:
1783778
•Concept ID:
C5543398
•
Disease or Syndrome
Synonyms: HYPERTRIGLYCERIDEMIA 2; HYTG2
 
Gene (location): CREB3L3 (19p13.3)
 
Monarch Initiative: MONDO:0859149
OMIM®: 619324

Definition

Hypertriglyceridemia-2 (HYTG2) is characterized by moderately to severely elevated plasma triglyceride levels, increased total cholesterol levels, and low levels of high density lipoprotein (HDL) cholesterol. Reduced penetrance has been observed (Lee et al., 2011; Cefalu et al., 2015). [from OMIM]

Clinical features

From HPO
Hypercholesterolemia
MedGen UID:
5687
•Concept ID:
C0020443
•
Disease or Syndrome
An increased concentration of cholesterol in the blood.
See: Feature record | Search on this feature
Decreased HDL cholesterol concentration
MedGen UID:
57731
•Concept ID:
C0151691
•
Finding
An decreased concentration of high-density lipoprotein cholesterol in the blood.
See: Feature record | Search on this feature
Hypertriglyceridemia
MedGen UID:
167238
•Concept ID:
C0813230
•
Finding
An abnormal increase in the level of triglycerides in the blood.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Quantifying atherogenic lipoproteins for lipid-lowering strategies: Consensus-based recommendations from EAS and EFLM.
Nordestgaard BG, Langlois MR, Langsted A, Chapman MJ, Aakre KM, Baum H, Borén J, Bruckert E, Catapano A, Cobbaert C, Collinson P, Descamps OS, Duff CJ, von Eckardstein A, Hammerer-Lercher A, Kamstrup PR, Kolovou G, Kronenberg F, Mora S, Pulkki K, Remaley AT, Rifai N, Ros E, Stankovic S, Stavljenic-Rukavina A, Sypniewska G, Watts GF, Wiklund O, Laitinen P; European Atherosclerosis Society (EAS) and the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) Joint Consensus Initiative
Atherosclerosis 2020 Feb;294:46-61. Epub 2020 Jan 9 doi: 10.1016/j.atherosclerosis.2019.12.005. PMID: 31928713
Quantifying atherogenic lipoproteins for lipid-lowering strategies: consensus-based recommendations from EAS and EFLM.
Langlois MR, Nordestgaard BG, Langsted A, Chapman MJ, Aakre KM, Baum H, Borén J, Bruckert E, Catapano A, Cobbaert C, Collinson P, Descamps OS, Duff CJ, von Eckardstein A, Hammerer-Lercher A, Kamstrup PR, Kolovou G, Kronenberg F, Mora S, Pulkki K, Remaley AT, Rifai N, Ros E, Stankovic S, Stavljenic-Rukavina A, Sypniewska G, Watts GF, Wiklund O, Laitinen P; European Atherosclerosis Society (EAS) and the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) Joint Consensus Initiative
Clin Chem Lab Med 2020 Mar 26;58(4):496-517. doi: 10.1515/cclm-2019-1253. PMID: 31855562
Which Lipids Should Be Analyzed for Diagnostic Workup and Follow-up of Patients with Hyperlipidemias?
Langlois MR, Nordestgaard BG
Curr Cardiol Rep 2018 Aug 17;20(10):88. doi: 10.1007/s11886-018-1036-1. PMID: 30120626

Recent clinical studies

Etiology

Prevention and Management of Hypertriglyceridemia-Induced Acute Pancreatitis During Pregnancy: A Systematic Review.
Gupta M, Liti B, Barrett C, Thompson PD, Fernandez AB
Am J Med 2022 Jun;135(6):709-714. Epub 2022 Jan 23 doi: 10.1016/j.amjmed.2021.12.006. PMID: 35081380
Clinical Management of Hypertriglyceridemia in the Prevention of Cardiovascular Disease and Pancreatitis.
Hernandez P, Passi N, Modarressi T, Kulkarni V, Soni M, Burke F, Bajaj A, Soffer D
Curr Atheroscler Rep 2021 Sep 13;23(11):72. doi: 10.1007/s11883-021-00962-z. PMID: 34515873Free PMC Article
The Diagnosis and Treatment of Hypertriglyceridemia.
Parhofer KG, Laufs U
Dtsch Arztebl Int 2019 Dec 6;116(49):825-832. doi: 10.3238/arztebl.2019.0825. PMID: 31888796Free PMC Article
The Forgotten Lipids: Triglycerides, Remnant Cholesterol, and Atherosclerotic Cardiovascular Disease Risk.
Sandesara PB, Virani SS, Fazio S, Shapiro MD
Endocr Rev 2019 Apr 1;40(2):537-557. doi: 10.1210/er.2018-00184. PMID: 30312399Free PMC Article
Triglycerides and cardiovascular disease.
Nordestgaard BG, Varbo A
Lancet 2014 Aug 16;384(9943):626-635. doi: 10.1016/S0140-6736(14)61177-6. PMID: 25131982

Diagnosis

Elevated LDL Triglycerides and Atherosclerotic Risk.
Balling M, Afzal S, Davey Smith G, Varbo A, Langsted A, Kamstrup PR, Nordestgaard BG
J Am Coll Cardiol 2023 Jan 17;81(2):136-152. doi: 10.1016/j.jacc.2022.10.019. PMID: 36631208
Pancreatitis in Pregnancy-Comprehensive Review.
Mądro A
Int J Environ Res Public Health 2022 Dec 3;19(23) doi: 10.3390/ijerph192316179. PMID: 36498253Free PMC Article
Triglycerides and Residual Atherosclerotic Risk.
Raposeiras-Roubin S, Rosselló X, Oliva B, Fernández-Friera L, Mendiguren JM, Andrés V, Bueno H, Sanz J, Martínez de Vega V, Abu-Assi E, Iñiguez A, Fernández-Ortiz A, Ibáñez B, Fuster V
J Am Coll Cardiol 2021 Jun 22;77(24):3031-3041. doi: 10.1016/j.jacc.2021.04.059. PMID: 34140107Free PMC Article
The Diagnosis and Treatment of Hypertriglyceridemia.
Parhofer KG, Laufs U
Dtsch Arztebl Int 2019 Dec 6;116(49):825-832. doi: 10.3238/arztebl.2019.0825. PMID: 31888796Free PMC Article
Triglycerides and cardiovascular disease.
Nordestgaard BG, Varbo A
Lancet 2014 Aug 16;384(9943):626-635. doi: 10.1016/S0140-6736(14)61177-6. PMID: 25131982

Therapy

Clinical Management of Hypertriglyceridemia in the Prevention of Cardiovascular Disease and Pancreatitis.
Hernandez P, Passi N, Modarressi T, Kulkarni V, Soni M, Burke F, Bajaj A, Soffer D
Curr Atheroscler Rep 2021 Sep 13;23(11):72. doi: 10.1007/s11883-021-00962-z. PMID: 34515873Free PMC Article
The Diagnosis and Treatment of Hypertriglyceridemia.
Parhofer KG, Laufs U
Dtsch Arztebl Int 2019 Dec 6;116(49):825-832. doi: 10.3238/arztebl.2019.0825. PMID: 31888796Free PMC Article
The Forgotten Lipids: Triglycerides, Remnant Cholesterol, and Atherosclerotic Cardiovascular Disease Risk.
Sandesara PB, Virani SS, Fazio S, Shapiro MD
Endocr Rev 2019 Apr 1;40(2):537-557. doi: 10.1210/er.2018-00184. PMID: 30312399Free PMC Article
Heparin and insulin in the management of hypertriglyceridemia-associated pancreatitis: case series and literature review.
Kuchay MS, Farooqui KJ, Bano T, Khandelwal M, Gill H, Mithal A
Arch Endocrinol Metab 2017 Mar-Apr;61(2):198-201. Epub 2017 Feb 13 doi: 10.1590/2359-3997000000244. PMID: 28225998Free PMC Article
Triglycerides and cardiovascular disease.
Nordestgaard BG, Varbo A
Lancet 2014 Aug 16;384(9943):626-635. doi: 10.1016/S0140-6736(14)61177-6. PMID: 25131982

Prognosis

Pancreatitis in Pregnancy-Comprehensive Review.
Mądro A
Int J Environ Res Public Health 2022 Dec 3;19(23) doi: 10.3390/ijerph192316179. PMID: 36498253Free PMC Article
Incidence and clinical characteristics of hypertriglyceridemic acute pancreatitis: A retrospective single-center study.
Lin XY, Zeng Y, Zhang ZC, Lin ZH, Chen LC, Ye ZS
World J Gastroenterol 2022 Aug 7;28(29):3946-3959. doi: 10.3748/wjg.v28.i29.3946. PMID: 36157550Free PMC Article
A New Equation for Calculation of Low-Density Lipoprotein Cholesterol in Patients With Normolipidemia and/or Hypertriglyceridemia.
Sampson M, Ling C, Sun Q, Harb R, Ashmaig M, Warnick R, Sethi A, Fleming JK, Otvos JD, Meeusen JW, Delaney SR, Jaffe AS, Shamburek R, Amar M, Remaley AT
JAMA Cardiol 2020 May 1;5(5):540-548. doi: 10.1001/jamacardio.2020.0013. PMID: 32101259Free PMC Article
Cardiovascular Risk Reduction with Icosapent Ethyl for Hypertriglyceridemia.
Bhatt DL, Steg PG, Miller M, Brinton EA, Jacobson TA, Ketchum SB, Doyle RT Jr, Juliano RA, Jiao L, Granowitz C, Tardif JC, Ballantyne CM; REDUCE-IT Investigators
N Engl J Med 2019 Jan 3;380(1):11-22. Epub 2018 Nov 10 doi: 10.1056/NEJMoa1812792. PMID: 30415628
Triglyceride-Rich Lipoproteins and Atherosclerotic Cardiovascular Disease: New Insights From Epidemiology, Genetics, and Biology.
Nordestgaard BG
Circ Res 2016 Feb 19;118(4):547-63. doi: 10.1161/CIRCRESAHA.115.306249. PMID: 26892957

Clinical prediction guides

Mechanisms linking hypertriglyceridemia to acute pancreatitis.
Kiss L, Fűr G, Pisipati S, Rajalingamgari P, Ewald N, Singh V, Rakonczay Z Jr
Acta Physiol (Oxf) 2023 Mar;237(3):e13916. Epub 2023 Jan 13 doi: 10.1111/apha.13916. PMID: 36599412
Pancreatitis in Pregnancy-Comprehensive Review.
Mądro A
Int J Environ Res Public Health 2022 Dec 3;19(23) doi: 10.3390/ijerph192316179. PMID: 36498253Free PMC Article
Incidence and clinical characteristics of hypertriglyceridemic acute pancreatitis: A retrospective single-center study.
Lin XY, Zeng Y, Zhang ZC, Lin ZH, Chen LC, Ye ZS
World J Gastroenterol 2022 Aug 7;28(29):3946-3959. doi: 10.3748/wjg.v28.i29.3946. PMID: 36157550Free PMC Article
Triglycerides and Residual Atherosclerotic Risk.
Raposeiras-Roubin S, Rosselló X, Oliva B, Fernández-Friera L, Mendiguren JM, Andrés V, Bueno H, Sanz J, Martínez de Vega V, Abu-Assi E, Iñiguez A, Fernández-Ortiz A, Ibáñez B, Fuster V
J Am Coll Cardiol 2021 Jun 22;77(24):3031-3041. doi: 10.1016/j.jacc.2021.04.059. PMID: 34140107Free PMC Article
The Forgotten Lipids: Triglycerides, Remnant Cholesterol, and Atherosclerotic Cardiovascular Disease Risk.
Sandesara PB, Virani SS, Fazio S, Shapiro MD
Endocr Rev 2019 Apr 1;40(2):537-557. doi: 10.1210/er.2018-00184. PMID: 30312399Free PMC Article

Recent systematic reviews

Fenofibrate for diabetic retinopathy.
Kataoka SY, Lois N, Kawano S, Kataoka Y, Inoue K, Watanabe N
Cochrane Database Syst Rev 2023 Jun 13;6(6):CD013318. doi: 10.1002/14651858.CD013318.pub2. PMID: 37310870Free PMC Article
Cardiovascular Risk and Sudden Sensorineural Hearing Loss: A Systematic Review and Meta-Analysis.
Simões JFCPM, Vlaminck S, Seiça RMF, Acke F, Miguéis ACE
Laryngoscope 2023 Jan;133(1):15-24. Epub 2022 Apr 25 doi: 10.1002/lary.30141. PMID: 35467030
Volanesorsen to treat severe hypertriglyceridaemia: A pooled analysis of randomized controlled trials.
Calcaterra I, Lupoli R, Di Minno A, Di Minno MND
Eur J Clin Invest 2022 Nov;52(11):e13841. Epub 2022 Jul 28 doi: 10.1111/eci.13841. PMID: 35851450Free PMC Article
Prevention and Management of Hypertriglyceridemia-Induced Acute Pancreatitis During Pregnancy: A Systematic Review.
Gupta M, Liti B, Barrett C, Thompson PD, Fernandez AB
Am J Med 2022 Jun;135(6):709-714. Epub 2022 Jan 23 doi: 10.1016/j.amjmed.2021.12.006. PMID: 35081380
Risk factors for gout and prevention: a systematic review of the literature.
Singh JA, Reddy SG, Kundukulam J
Curr Opin Rheumatol 2011 Mar;23(2):192-202. doi: 10.1097/BOR.0b013e3283438e13. PMID: 21285714Free PMC Article

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      Related medical variations
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      Related information in NCBI Gene
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      Related information in GTR
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      Clinical tests in GTR
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      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

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