Document Detail


Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent.
MedLine Citation:
PMID:  1588268     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Fish eye disease (FED) is an extremely rare familial disorder characterized by severe HDL deficiency and extensive corneal opacities. This disorder appears to be a variant of familial lecithin: cholesterol acyltransferase (LCAT) deficiency in which the enzyme remains partly active yet the ability of the enzyme to esterify cholesterol in high-density lipoprotein (HDL) has been lost. The rarity of this disorder has limited advances in our understanding of the pathophysiology of the HDL deficiency. However, we here describe the clinical and biochemical presentation of a family with FED who are of Dutch descent. The proposition presented with HDL deficiency and corneal opacity. Subsequently, they were diagnosed as having FED by the absence of LCAT activity against a small proteoliposome substrate despite the presence of half-normal LCAT mass and a near-normal ratio of unesterified to total cholesterol in plasma. Heterozygotes presented with half-normal LCAT activity, but not with decreased HDL. With the identification of this three-generation family, renewed investigation of this intriguing disorder of HDL is now possible.
Authors:
J J Kastelein; P H Pritchard; D W Erkelens; J A Kuivenhoven; J J Albers; J J Frohlich
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Journal of internal medicine     Volume:  231     ISSN:  0954-6820     ISO Abbreviation:  J. Intern. Med.     Publication Date:  1992 Apr 
Date Detail:
Created Date:  1992-06-19     Completed Date:  1992-06-19     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8904841     Medline TA:  J Intern Med     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  413-9     Citation Subset:  IM    
Affiliation:
Centre for Haemostasis, Thrombosis and Atherosclerosis, University of Amsterdam, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Adult
Corneal Opacity / genetics*
Heterozygote
Homozygote
Humans
Hypolipoproteinemias / genetics*
Lecithin Acyltransferase Deficiency / genetics*
Lipoproteins, HDL / deficiency*
Male
Netherlands / ethnology
Pedigree
Grant Support
ID/Acronym/Agency:
HL 30086/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
0/Lipoproteins, HDL

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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