Low circulating PCSK9 levels in
LPL gene
Lebanon
PCSK9 levels
Syria
chylomicronemia syndrome
triglycerides
type 1 hyperlipoproteinemia
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2022
2022
Historique:
received:
03
06
2022
accepted:
26
07
2022
entrez:
5
9
2022
pubmed:
6
9
2022
medline:
6
9
2022
Statut:
epublish
Résumé
Familial chylomicronemia syndrome is a rare autosomal recessive disorder of lipoprotein metabolism characterized by the presence of chylomicrons in fasting plasma and an important increase in plasma triglycerides (TG) levels that can exceed 22.58 mmol/l. The disease is associated with recurrent episodes of abdominal pain and pancreatitis, eruptive cutaneous xanthomatosis, lipemia retinalis, and hepatosplenomegaly. A consanguineous Syrian family who migrated to Lebanon was referred to our laboratory after perceiving familial chylomicronemia syndrome in two children. The
Identifiants
pubmed: 36061186
doi: 10.3389/fgene.2022.961028
pii: 961028
pmc: PMC9437297
doi:
Types de publication
Journal Article
Langues
eng
Pagination
961028Informations de copyright
Copyright © 2022 Ayoub, Azar, Maddah, Ghaleb, Elbitar, Abou-Khalil, Jambart, Varret, Boileau, El Khoury and Abifadel.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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