ABSTRACT
The first case of familial LCAT deficiency was described over three decades ago by Kare Norum and collaborators (Norum and Gjone, 1968; Gjone and Norum, 1968b; Torsvik et al., 1968). The three probands from this family were characterised by complete absence of LCAT activity accompanied by reduced cholesteryl ester and plasma LCAT concentration. The major remarkable findings of these patients were lipoprotein abnormalities-high density lipoproteins (HDL) deficiency, lipid changes in low density lipoproteins (LDL) and very low density lipoproteins (VLDL) particles, corneal opacification, anaemia, proteinurea and renal disease (Glomset et al., 1989). These findings have prompted a great deal of attention from both clinical and basic scientists, which has led to a better understanding of pathophysiology of this disorder. Traditionally, the phenotypic and laboratory findings have provided the basis of classification for the variants of this disorder. These are familial LCAT deficiency and fisheye disease.
