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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

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

Wilson DP, Williams L, Kavey RW
J Pediatr 2022 Apr;243:200-207. Epub 2021 Dec 17 doi: 10.1016/j.jpeds.2021.12.017. PMID: 34929246
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
Mohandas MK, Jemila J, Ajith Krishnan AS, George TT
Indian J Pediatr 2005 Feb;72(2):181. PMID: 15758547

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

Watts GF, Rosenson RS, Hegele RA, Goldberg IJ, Gallo A, Mertens A, Baass A, Zhou R, Muhsin M, Hellawell J, Leeper NJ, Gaudet D; PALISADE Study Group
N Engl J Med 2025 Jan 9;392(2):127-137. Epub 2024 Sep 2 doi: 10.1056/NEJMoa2409368. PMID: 39225259
Blanco Echevarría A, Ariza Corbo MJ, Muñiz-Grijalvo O, Díaz-Díaz JL
Clin Investig Arterioscler 2024 Dec;36 Suppl 2:S18-S24. doi: 10.1016/j.arteri.2024.10.006. PMID: 39672668
Vigna GB, Citroni N, Tarugi P, Fellin R
J Clin Lipidol 2022 Sep-Oct;16(5):591-595. Epub 2022 Jul 31 doi: 10.1016/j.jacl.2022.07.013. PMID: 35945124
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
Sisman G, Erzin Y, Hatemi I, Caglar E, Boga S, Singh V, Senturk H
Hepatobiliary Pancreat Dis Int 2014 Apr;13(2):209-14. doi: 10.1016/s1499-3872(14)60033-3. PMID: 24686550

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
Rodriguez FH, Estrada JM, Quintero HMA, Nogueira JP, Porras-Hurtado GL
Lipids Health Dis 2023 Mar 28;22(1):43. doi: 10.1186/s12944-022-01768-x. PMID: 36978188Free 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
Stroes E, Moulin P, Parhofer KG, Rebours V, Löhr JM, Averna M
Atheroscler Suppl 2017 Jan;23:1-7. Epub 2016 Dec 18 doi: 10.1016/j.atherosclerosissup.2016.10.002. PMID: 27998715

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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