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Hypertriglyceridemia 1(HYTG1)

MedGen UID:
1787149
Concept ID:
C5444012
Disease or Syndrome
Synonym: Hypertriglyceridemia, familial
 
Gene (location): APOA5 (11q23.3)
 
Monarch Initiative: MONDO:0007788
OMIM®: 145750

Clinical features

From HPO
Precocious atherosclerosis
MedGen UID:
867292
Concept ID:
C4021654
Pathologic Function
Hypopituitarism
MedGen UID:
9386
Concept ID:
C0020635
Disease or Syndrome
A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.
Glucose intolerance
MedGen UID:
75760
Concept ID:
C0271650
Disease or Syndrome
Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).
Hypertriglyceridemia
MedGen UID:
167238
Concept ID:
C0813230
Finding
An abnormal increase in the level of triglycerides in the blood.
Increased VLDL cholesterol concentration
MedGen UID:
867364
Concept ID:
C4021729
Finding
An increase in the amount of very-low-density lipoprotein cholesterol in the blood.
Atheroeruptive xanthoma
MedGen UID:
871319
Concept ID:
C4025807
Disease or Syndrome

Professional guidelines

PubMed

Backes J, Anzalone D, Hilleman D, Catini J
Lipids Health Dis 2016 Jul 22;15(1):118. doi: 10.1186/s12944-016-0286-4. PMID: 27444154Free PMC Article
Ito MK
Atherosclerosis 2015 Oct;242(2):647-56. Epub 2015 Jun 11 doi: 10.1016/j.atherosclerosis.2015.06.012. PMID: 26296750
de Graaf J, van der Vleuten G, Stalenhoef AF
Semin Vasc Med 2004 Aug;4(3):229-40. doi: 10.1055/s-2004-861490. PMID: 15630632

Recent clinical studies

Etiology

Ryan A, Simpson WG, Twomey P
J Clin Pathol 2023 Jan;76(1):2-4. Epub 2022 Sep 27 doi: 10.1136/jcp-2022-208513. PMID: 36167730
Packard CJ, Boren J, Taskinen MR
Front Endocrinol (Lausanne) 2020;11:252. Epub 2020 May 14 doi: 10.3389/fendo.2020.00252. PMID: 32477261Free PMC Article
Laufs U, Parhofer KG, Ginsberg HN, Hegele RA
Eur Heart J 2020 Jan 1;41(1):99-109c. doi: 10.1093/eurheartj/ehz785. PMID: 31764986Free PMC Article
Roubille F, Sultan A, Huet F, Leclercq F, Macia JC, Gervasoni R, Delseny D, Akodad M, Roubille C
Presse Med 2018 Sep;47(9):757-763. Epub 2018 Sep 24 doi: 10.1016/j.lpm.2018.08.009. PMID: 30262206
Peng J, Luo F, Ruan G, Peng R, Li X
Lipids Health Dis 2017 Dec 6;16(1):233. doi: 10.1186/s12944-017-0625-0. PMID: 29212549Free PMC Article

Diagnosis

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
Ryan A, Simpson WG, Twomey P
J Clin Pathol 2023 Jan;76(1):2-4. Epub 2022 Sep 27 doi: 10.1136/jcp-2022-208513. PMID: 36167730
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
Mauri M, Calmarza P, Ibarretxe D
Clin Investig Arterioscler 2021 Jan-Feb;33(1):41-52. Epub 2020 Dec 9 doi: 10.1016/j.arteri.2020.10.002. PMID: 33309071
Prieur X, Le May C, Magré J, Cariou B
Curr Atheroscler Rep 2014 Sep;16(9):437. doi: 10.1007/s11883-014-0437-x. PMID: 25047893

Therapy

Gaudet D, Pall D, Watts GF, Nicholls SJ, Rosenson RS, Modesto K, San Martin J, Hellawell J, Ballantyne CM
JAMA Cardiol 2024 Jul 1;9(7):620-630. doi: 10.1001/jamacardio.2024.0959. PMID: 38583092Free PMC Article
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
Roubille F, Sultan A, Huet F, Leclercq F, Macia JC, Gervasoni R, Delseny D, Akodad M, Roubille C
Presse Med 2018 Sep;47(9):757-763. Epub 2018 Sep 24 doi: 10.1016/j.lpm.2018.08.009. PMID: 30262206
Shmookler A, Smith S
J Clin Apher 2018 Feb;33(1):97-98. Epub 2017 Jul 28 doi: 10.1002/jca.21571. PMID: 28752901
Morley JE
Curr Opin Clin Nutr Metab Care 2014 Jan;17(1):1-4. doi: 10.1097/MCO.0000000000000005. PMID: 24310052

Prognosis

Wang J, Xia Y, Cao Y, Cai X, Jiang S, Liao Y, Shi M, Luo H, Wang D
Lipids Health Dis 2023 Nov 29;22(1):208. doi: 10.1186/s12944-023-01968-z. PMID: 38031159Free PMC Article
Liang YY, Chen J, Peng M, Zhou J, Chen X, Tan X, Wang N, Ma H, Guo L, Zhang J, Wing YK, Geng Q, Ai S
J Transl Med 2023 Feb 7;21(1):90. doi: 10.1186/s12967-023-03920-2. PMID: 36747249Free PMC Article
Deshotels MR, Hadley TD, Roth M, Agha AM, Pulipati VP, Nugent AK, Virani SS, Nambi V, Moriarty PM, Davidson MH, Ballantyne CM
Arterioscler Thromb Vasc Biol 2022 Dec;42(12):1461-1467. Epub 2022 Nov 3 doi: 10.1161/ATVBAHA.122.318445. PMID: 36325899
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
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

Clinical prediction guides

Gaudet D, Pall D, Watts GF, Nicholls SJ, Rosenson RS, Modesto K, San Martin J, Hellawell J, Ballantyne CM
JAMA Cardiol 2024 Jul 1;9(7):620-630. doi: 10.1001/jamacardio.2024.0959. PMID: 38583092Free PMC Article
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
Deshotels MR, Hadley TD, Roth M, Agha AM, Pulipati VP, Nugent AK, Virani SS, Nambi V, Moriarty PM, Davidson MH, Ballantyne CM
Arterioscler Thromb Vasc Biol 2022 Dec;42(12):1461-1467. Epub 2022 Nov 3 doi: 10.1161/ATVBAHA.122.318445. PMID: 36325899
Tardif JC, Karwatowska-Prokopczuk E, Amour ES, Ballantyne CM, Shapiro MD, Moriarty PM, Baum SJ, Hurh E, Bartlett VJ, Kingsbury J, Figueroa AL, Alexander VJ, Tami J, Witztum JL, Geary RS, O'Dea LSL, Tsimikas S, Gaudet D
Eur Heart J 2022 Apr 6;43(14):1401-1412. doi: 10.1093/eurheartj/ehab820. PMID: 35025993Free PMC Article
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

Recent systematic reviews

Vitale M, Costabile G, Testa R, D'Abbronzo G, Nettore IC, Macchia PE, Giacco R
Adv Nutr 2024 Jan;15(1):100121. Epub 2023 Dec 18 doi: 10.1016/j.advnut.2023.09.009. PMID: 38245358Free PMC Article
Zhan ZQ, Chen YZ, Huang ZM, Luo YH, Zeng JJ, Wang Y, Tan J, Chen YX, Fang JY
J Gastroenterol Hepatol 2024 Apr;39(4):630-641. Epub 2024 Jan 17 doi: 10.1111/jgh.16477. PMID: 38230882
Dadkhah Tehrani S, Shojaei M, Bagherniya M, Pirro M, Sahebkar A
Phytother Res 2023 Apr;37(4):1640-1662. Epub 2023 Feb 9 doi: 10.1002/ptr.7763. PMID: 36756995
Czepielewski L, Daruy Filho L, Brietzke E, Grassi-Oliveira R
Braz J Psychiatry 2013 Mar;35(1):88-93. doi: 10.1016/j.rbp.2012.07.004. PMID: 23567607
Wycherley TP, Moran LJ, Clifton PM, Noakes M, Brinkworth GD
Am J Clin Nutr 2012 Dec;96(6):1281-98. Epub 2012 Oct 24 doi: 10.3945/ajcn.112.044321. PMID: 23097268

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