Corneal Clouding in a Young Woman With Low HDL Cholesterol.
HDL, high-density lipoprotein
LCAT, lecithin cholesterol acyl transferase
NIH, National Institutes of Health
apoA1, apolipoprotein A1
genetic disorders
lipid metabolism disorders
metabolic syndrome X
Journal
JACC. Case reports
ISSN: 2666-0849
Titre abrégé: JACC Case Rep
Pays: Netherlands
ID NLM: 101757292
Informations de publication
Date de publication:
Oct 2019
Oct 2019
Historique:
received:
18
05
2019
revised:
10
07
2019
accepted:
17
07
2019
entrez:
28
7
2021
pubmed:
18
9
2019
medline:
18
9
2019
Statut:
epublish
Résumé
This report describes the early diagnosis of lecithin cholesterol acyl transferase deficiency in a young asymptomatic woman who initially presented to ophthalmology with bilateral corneal clouding. The diagnosis was suggested by characteristic slit-lamp findings, undetectable high-density lipoprotein, and proteinuria, and it was confirmed by cardiology consultation and genetic testing. (
Identifiants
pubmed: 34316822
doi: 10.1016/j.jaccas.2019.07.020
pii: S2666-0849(19)30254-2
pmc: PMC8288582
doi:
Types de publication
Case Reports
Langues
eng
Pagination
343-345Informations de copyright
© 2019 The Authors.
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