چكيده لاتين :
Familial lecithin-cholesterol acyltransferase deficiency is an uncommon autosomal recessive
disorder from a heritable defect in esterification of plasma cholesterol. In 1968, the disease was
described by Gjone and Norum in Norway.
Our case was a 38-year-old woman. Her disease was manifested by presence of lower
extremities edema, proteinuria, corneal opacities, increased plasma cholesterol, and hemolytic
anemia. Suspicion of the disease was based on renal biopsy, which revealed mesangial expansion
and capillary wall widening with clusters of foamy cells in the mesangium. Immunofluorescence
study was nonspecific, but specific findings of electron microscopy showed deposition of lipid in
the glomerular basement membrane and mesangium. This is the first report of lecithin-cholesterol
acyltransferase deficiency in Iran.
The diagnosis was confirmed by a low high-density lipoprotein cholesterol concentration,
decreased activity of lecithin-cholesterol acyltransferase in plasma, and positive familial history of
the disease.
