A Novel
apolipoprotein C-II
hyperlipoproteinemia type I
hypertriglyceridemia
pancreatitis
Journal
The application of clinical genetics
ISSN: 1178-704X
Titre abrégé: Appl Clin Genet
Pays: New Zealand
ID NLM: 101579789
Informations de publication
Date de publication:
2020
2020
Historique:
received:
20
12
2019
accepted:
20
02
2020
entrez:
14
4
2020
pubmed:
14
4
2020
medline:
14
4
2020
Statut:
epublish
Résumé
Hypertriglyceridemia is a common disease with only 2% of cases exhibiting monogenic mutations. Familial chylomicronemia syndrome (FCS) is a rare genetic condition associated with recurrent and severe episodes of pancreatitis and is mainly caused by mutations in the LPL gene, with few cases related to abnormal function of apolipoprotein C-II. This is a 50-year-old female with a past medical history of arterial hypertension, miscarriage and recurrent pancreatitis. In the last four years, her triglycerides and lipase concentration reached >3000 mg/dL and >700 U/L, respectively. The patient was not responsive to statins, fibrates, or tetrahydrolipstatin. A novel homozygous frameshift mutation on exon 3 of the
Identifiants
pubmed: 32280258
doi: 10.2147/TACG.S243148
pii: 243148
pmc: PMC7125404
doi:
Types de publication
Case Reports
Langues
eng
Pagination
63-69Informations de copyright
© 2020 Pinilla-Monsalve et al.
Déclaration de conflit d'intérêts
The authors report no conflicts of interest in this work.
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