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Familial high‐density‐lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent
Author(s) -
KASTELEIN J. J. P.,
PRITCHARD P. H.,
ERKELENS D. W.,
KUIVENHOVEN J. A.,
ALBERS J. J.,
FROHLICH J. J.
Publication year - 1992
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1111/j.1365-2796.1992.tb00953.x
Subject(s) - tangier disease , medicine , cholesterol , sterol o acyltransferase , heterozygote advantage , high density lipoprotein , endocrinology , disease , lipoprotein , genetics , biology , gene , allele , abca1 , transporter
Abstract. 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 propositi 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.