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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

Therapy

Bergmark BA, Marston NA, Prohaska TA, Alexander VJ, Zimerman A, Moura FA, Murphy SA, Goodrich EL, Zhang S, Gaudet D, Karwatowska-Prokopczuk E, Tsimikas S, Giugliano RP, Sabatine MS; Bridge–TIMI 73a Investigators
N Engl J Med 2024 May 16;390(19):1770-1780. Epub 2024 Apr 7 doi: 10.1056/NEJMoa2402309. PMID: 38587249
Stroes ESG, Alexander VJ, Karwatowska-Prokopczuk E, Hegele RA, Arca M, Ballantyne CM, Soran H, Prohaska TA, Xia S, Ginsberg HN, Witztum JL, Tsimikas S; Balance Investigators
N Engl J Med 2024 May 16;390(19):1781-1792. Epub 2024 Apr 7 doi: 10.1056/NEJMoa2400201. PMID: 38587247
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
Gubensek J
BMC Gastroenterol 2023 Oct 3;23(1):341. doi: 10.1186/s12876-023-02957-3. PMID: 37789261Free 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

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

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
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
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
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
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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