Hereditary lecithin-cholesterol acyltransferase deficiency. Report of 2 new cases and review of the literature.
Two new cases of hereditary lecithin-cholesterol acyltransferase (LCAT) deficiency in a brother and sister born to consanguinous parents are reported. Both have corneal opacity, splenomegaly and mild hemolytic anemia. The brother, the older of the 2, also has significant proteinuria. The literature dealing with reported cases of hereditary LCAT deficiency and the clinical, pathological, diagnostic and management aspects of the disorder are reviewed.
D000328:Adult; D000743:Anemia, Hemolytic / Q000150:complications; D001816:Bloom Syndrome / Q000150:complications; D003318:Corneal Opacity / Q000150:complications; D005260:Female; D006801:Humans; D007009:Hypolipoproteinemias / Q000235:genetics*; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D011507:Proteinuria / Q000150:complications