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Familial chylomicronemia syndrome

MedGen UID:
1778100
Concept ID:
C5442313
Disease or Syndrome
Synonym: familial chylomicronemia syndrome
SNOMED CT: Familial chylomicronemia syndrome (1197489003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related genes: GPIHBP1, LPL, APOC2
 
Monarch Initiative: MONDO:0018637
Orphanet: ORPHA444490

Definition

A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons. Clinical manifestations include recurrent episodes of severe acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, constipation, hepatosplenomegaly, eruptive xanthomas and failure to thrive. Children may often be asymptomatic. The condition is not associated with severe atherosclerosis. [from SNOMEDCT_US]

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

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
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

Diagnosis

Berberich AJ, Hegele RA
Endocr Rev 2022 Jul 13;43(4):611-653. doi: 10.1210/endrev/bnab037. PMID: 34676866Free PMC Article
Gallo A, Béliard S, D'Erasmo L, Bruckert E
Curr Atheroscler Rep 2020 Aug 27;22(11):63. doi: 10.1007/s11883-020-00885-1. PMID: 32852651
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

Therapy

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
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
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
Teramoto R, Tada H, Kawashiri MA, Nohara A, Nakahashi T, Konno T, Inazu A, Mabuchi H, Yamagishi M, Hayashi K
Atherosclerosis 2018 Feb;269:272-278. Epub 2017 Nov 14 doi: 10.1016/j.atherosclerosis.2017.11.006. PMID: 29153744

Clinical prediction guides

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
Teramoto R, Tada H, Kawashiri MA, Nohara A, Nakahashi T, Konno T, Inazu A, Mabuchi H, Yamagishi M, Hayashi K
Atherosclerosis 2018 Feb;269:272-278. Epub 2017 Nov 14 doi: 10.1016/j.atherosclerosis.2017.11.006. PMID: 29153744

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

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