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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

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
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
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

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
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
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
Nordestgaard BG
Circ Res 2016 Feb 19;118(4):547-63. doi: 10.1161/CIRCRESAHA.115.306249. PMID: 26892957

Therapy

Bhatt DL, Bays HE, Miller M, Cain JE 3rd, Wasilewska K, Andrawis NS, Parli T, Feng S, Sterling L, Tseng L, Hartsfield CL, Agollah GD, Mansbach H, Kastelein JJP; ENTRIGUE Principal Investigators
Nat Med 2023 Jul;29(7):1782-1792. Epub 2023 Jun 24 doi: 10.1038/s41591-023-02427-z. PMID: 37355760Free 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
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
Chapman MJ, Zamorano JL, Parhofer KG
Pharmacol Ther 2022 Sep;237:108172. Epub 2022 Mar 15 doi: 10.1016/j.pharmthera.2022.108172. PMID: 35304222
Tada H, Takamura M, Kawashiri MA
Adv Clin Chem 2020;97:141-169. Epub 2020 Feb 14 doi: 10.1016/bs.acc.2019.12.005. PMID: 32448433

Prognosis

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
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
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
Nordestgaard BG
Circ Res 2016 Feb 19;118(4):547-63. doi: 10.1161/CIRCRESAHA.115.306249. PMID: 26892957

Clinical prediction guides

Cao L, Chen Y, Liu S, Huang W, Wu D, Hong D, Wang Z, Sun Y, Qin K, Guo F, Luo C, Jiao Q, Luo X, Zhou J, Li G, Ye B, Chen T, Liu M, Mao W, Wang L, Li S, Windsor JA, Liu Y, Ke L, Tong Z, Li W; Chinese Acute Pancreatitis Clinical Trials Group (CAPCTG)
JAMA Netw Open 2023 Jun 1;6(6):e2320802. doi: 10.1001/jamanetworkopen.2023.20802. PMID: 37378979Free PMC Article
Bhatt DL, Bays HE, Miller M, Cain JE 3rd, Wasilewska K, Andrawis NS, Parli T, Feng S, Sterling L, Tseng L, Hartsfield CL, Agollah GD, Mansbach H, Kastelein JJP; ENTRIGUE Principal Investigators
Nat Med 2023 Jul;29(7):1782-1792. Epub 2023 Jun 24 doi: 10.1038/s41591-023-02427-z. PMID: 37355760Free 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
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
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

Li S, Gao L, Gong H, Cao L, Zhou J, Ke L, Liu Y, Tong Z, Li W
Eur J Intern Med 2023 Oct;116:72-81. Epub 2023 Jun 15 doi: 10.1016/j.ejim.2023.06.006. PMID: 37330318
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
Zhong L, Liu J, Liu S, Tan G
Front Endocrinol (Lausanne) 2023;14:1116582. Epub 2023 Apr 11 doi: 10.3389/fendo.2023.1116582. PMID: 37113491Free PMC Article
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
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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