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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

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
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
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
Hassing HC, Surendran RP, Mooij HL, Stroes ES, Nieuwdorp M, Dallinga-Thie GM
Biochim Biophys Acta 2012 May;1821(5):826-32. Epub 2011 Dec 10 doi: 10.1016/j.bbalip.2011.11.010. PMID: 22179026

Diagnosis

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
Pappa E, Rizos CV, Filippatos TD, Elisaf MS
J Cardiovasc Pharmacol Ther 2019 Jul;24(4):315-322. Epub 2019 Mar 25 doi: 10.1177/1074248419838506. PMID: 30909733
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
Kolovou GD, Anagnostopoulou KK, Kostakou PM, Bilianou H, Mikhailidis DP
Curr Drug Targets 2009 Apr;10(4):336-43. doi: 10.2174/138945009787846452. PMID: 19355858
Goldberg IJ
Endocrinol Metab Clin North Am 2009 Mar;38(1):137-49. doi: 10.1016/j.ecl.2008.11.005. PMID: 19217516

Therapy

Kraaijenhof JM, Stroes ESG
NEJM Evid 2023 Dec;2(12):EVIDe2300239. Epub 2023 Nov 28 doi: 10.1056/EVIDe2300239. PMID: 38320505
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
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
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
Morley JE
Curr Opin Clin Nutr Metab Care 2014 Jan;17(1):1-4. doi: 10.1097/MCO.0000000000000005. PMID: 24310052

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
Florentin M, Kostapanos MS, Anagnostis P, Liamis G
Expert Opin Pharmacother 2020 Jan;21(1):107-120. Epub 2019 Nov 18 doi: 10.1080/14656566.2019.1691523. PMID: 31738617
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
Shaikh BH, Sohaib M, Alshantti R, Barrera F, Faridi FS, Murvelashvili N
Am J Case Rep 2018 Nov 10;19:1342-1344. doi: 10.12659/AJCR.911747. PMID: 30413682Free PMC Article
Pao V, Lee GA, Grunfeld C
Curr Atheroscler Rep 2008 Feb;10(1):61-70. doi: 10.1007/s11883-008-0010-6. PMID: 18366987Free PMC Article

Clinical prediction guides

Kraaijenhof JM, Stroes ESG
NEJM Evid 2023 Dec;2(12):EVIDe2300239. Epub 2023 Nov 28 doi: 10.1056/EVIDe2300239. PMID: 38320505
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
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
Pappa E, Rizos CV, Filippatos TD, Elisaf MS
J Cardiovasc Pharmacol Ther 2019 Jul;24(4):315-322. Epub 2019 Mar 25 doi: 10.1177/1074248419838506. PMID: 30909733
Hassing HC, Surendran RP, Mooij HL, Stroes ES, Nieuwdorp M, Dallinga-Thie GM
Biochim Biophys Acta 2012 May;1821(5):826-32. Epub 2011 Dec 10 doi: 10.1016/j.bbalip.2011.11.010. PMID: 22179026

Recent systematic reviews

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
Elkhouly MA, Salazar MJ, Simons-Linares CR
Pancreas 2019 Jan;48(1):22-35. doi: 10.1097/MPA.0000000000001190. PMID: 30531242
Hadi A, Mohammadi H, Hadi Z, Roshanravan N, Kafeshani M
Phytother Res 2018 Nov;32(11):2146-2154. Epub 2018 Aug 8 doi: 10.1002/ptr.6162. PMID: 30088304
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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