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Chylomicronemia syndrome

MedGen UID:
697577
Concept ID:
C1274228
Disease or Syndrome
Synonym: Chylomicronemia
SNOMED CT: Chylomicronemia syndrome (402786009)
 
Related genes: GPIHBP1, LPL, APOC2

Professional guidelines

PubMed

Gouni-Berthold I, Schwarz J, Berthold HK
Curr Atheroscler Rep 2023 Oct;25(10):701-709. Epub 2023 Aug 29 doi: 10.1007/s11883-023-01140-z. PMID: 37642858Free PMC Article
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
Parhofer KG, Laufs U
Dtsch Arztebl Int 2019 Dec 6;116(49):825-832. doi: 10.3238/arztebl.2019.0825. PMID: 31888796Free PMC Article

Recent clinical studies

Etiology

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
Gouni-Berthold I, Schwarz J, Berthold HK
Curr Atheroscler Rep 2023 Oct;25(10):701-709. Epub 2023 Aug 29 doi: 10.1007/s11883-023-01140-z. PMID: 37642858Free PMC Article
Berberich AJ, Hegele RA
Endocr Rev 2022 Jul 13;43(4):611-653. doi: 10.1210/endrev/bnab037. PMID: 34676866Free PMC Article
Goldberg RB, Chait A
Front Endocrinol (Lausanne) 2020;11:593931. Epub 2020 Oct 23 doi: 10.3389/fendo.2020.593931. PMID: 33193106Free PMC Article
Parhofer KG, Laufs U
Dtsch Arztebl Int 2019 Dec 6;116(49):825-832. doi: 10.3238/arztebl.2019.0825. PMID: 31888796Free PMC Article

Diagnosis

Berberich AJ, Hegele RA
Endocr Rev 2022 Jul 13;43(4):611-653. doi: 10.1210/endrev/bnab037. PMID: 34676866Free PMC Article
Parhofer KG, Laufs U
Dtsch Arztebl Int 2019 Dec 6;116(49):825-832. doi: 10.3238/arztebl.2019.0825. PMID: 31888796Free PMC Article
Falko JM
Endocr Pract 2018 Aug;24(8):756-763. doi: 10.4158/EP-2018-0157. PMID: 30183397
Brown WV, Goldberg I, Duell B, Gaudet D
J Clin Lipidol 2018 Mar-Apr;12(2):254-263. Epub 2018 Mar 5 doi: 10.1016/j.jacl.2018.02.018. PMID: 29534878
Chait A, Brunzell JD
Adv Intern Med 1992;37:249-73. PMID: 1557997

Therapy

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
Gouni-Berthold I, Schwarz J, Berthold HK
Curr Atheroscler Rep 2023 Oct;25(10):701-709. Epub 2023 Aug 29 doi: 10.1007/s11883-023-01140-z. PMID: 37642858Free PMC Article
Egli M, Manoharan M
Nucleic Acids Res 2023 Apr 11;51(6):2529-2573. doi: 10.1093/nar/gkad067. PMID: 36881759Free PMC Article
Parhofer KG, Laufs U
Dtsch Arztebl Int 2019 Dec 6;116(49):825-832. doi: 10.3238/arztebl.2019.0825. PMID: 31888796Free PMC Article
Witztum JL, Gaudet D, Freedman SD, Alexander VJ, Digenio A, Williams KR, Yang Q, Hughes SG, Geary RS, Arca M, Stroes ESG, Bergeron J, Soran H, Civeira F, Hemphill L, Tsimikas S, Blom DJ, O'Dea L, Bruckert E
N Engl J Med 2019 Aug 8;381(6):531-542. doi: 10.1056/NEJMoa1715944. PMID: 31390500

Prognosis

Santos RD, Lorenzatti A, Corral P, Nogueira JP, Cafferata AM, Aimone D, Lourenço CM, Izar MC, Lima JG, Lottenberg AM, Alonso R, Garay K, Morales AR, Vargas-Uricoechea H, Peña CAC, Roman-González A
J Clin Lipidol 2021 Sep-Oct;15(5):620-624. doi: 10.1016/j.jacl.2021.10.004. PMID: 34920815
Baass A, Paquette M, Bernard S, Hegele RA
J Intern Med 2020 Apr;287(4):340-348. Epub 2020 Jan 8 doi: 10.1111/joim.13016. PMID: 31840878
Chyzhyk V, Brown AS
Trends Cardiovasc Med 2020 Feb;30(2):80-85. Epub 2019 Mar 19 doi: 10.1016/j.tcm.2019.03.001. PMID: 31003756
Paquette M, Bernard S, Hegele RA, Baass A
Atherosclerosis 2019 Apr;283:137-142. Epub 2018 Dec 28 doi: 10.1016/j.atherosclerosis.2018.12.019. PMID: 30655019
Chait A, Brunzell JD
Adv Intern Med 1992;37:249-73. PMID: 1557997

Clinical prediction guides

De Villers-Lacasse A, Paquette M, Baass A, Bernard S
J Clin Lipidol 2023 Jul-Aug;17(4):475-482. Epub 2023 May 20 doi: 10.1016/j.jacl.2023.05.096. PMID: 37258405
Rosenson RS, Gaudet D, Ballantyne CM, Baum SJ, Bergeron J, Kershaw EE, Moriarty PM, Rubba P, Whitcomb DC, Banerjee P, Gewitz A, Gonzaga-Jauregui C, McGinniss J, Ponda MP, Pordy R, Zhao J, Rader DJ
Nat Med 2023 Mar;29(3):729-737. Epub 2023 Mar 6 doi: 10.1038/s41591-023-02222-w. PMID: 36879129Free PMC Article
Dron JS, Hegele RA
Front Endocrinol (Lausanne) 2020;11:455. Epub 2020 Jul 24 doi: 10.3389/fendo.2020.00455. PMID: 32793115Free PMC Article
Baass A, Paquette M, Bernard S, Hegele RA
J Intern Med 2020 Apr;287(4):340-348. Epub 2020 Jan 8 doi: 10.1111/joim.13016. PMID: 31840878
Paquette M, Bernard S, Hegele RA, Baass A
Atherosclerosis 2019 Apr;283:137-142. Epub 2018 Dec 28 doi: 10.1016/j.atherosclerosis.2018.12.019. PMID: 30655019

Recent systematic reviews

Tripathi M, Wong A, Solomon V, Yassine HN
Endocr Pract 2021 Jan;27(1):71-76. Epub 2020 Nov 18 doi: 10.4158/EP-2020-0135. PMID: 33475504
Green ML
J Gen Intern Med 2002 Oct;17(10):797-810. doi: 10.1046/j.1525-1497.2002.20201.x. PMID: 12390557Free PMC Article

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