A Report on a Japanese Family with LCAT Deficiency

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A woman and her brothers with LCAT deficiency are reported. They had typical signs and symptomes of the disease, such as corneal opacity, moderate anemia with a slight hemolytic component and proteinuria. The concentration of plasma esterified cholesterol was very low in all patients, the concentration of total cholesterol was very low in the proband and a brother, and that of triglyceride was high in the brothers. Plasma LCAT activity was about 10% of normal in all patients. The erythrocyte lipid pattern was abnormal: the cholesterol content was 1.5 times of normal erythrocyte. In the agarose electrophore sis, αband was absent, and the pre-β band could not be separated forrn β band which moved slowly. In the polyacryl amide gel disc electrophoresis the abnormal bands were observed between α and β bands. The lipid pattern of the major plasma lipoprotein fractions was abnormal. In chylomicron, VLDL and LDL1 (1.006-1.019), the concentration of lipid was too low to be measured. In LDL2 (1.019-1.063) and HDL, the concentration of free cholesterol and triglyceride was very high and the cholesterol e ster ratio was very low. Electron rnicroscopic examination reve aled morphological abnormalities in all major plasma lipoproteins. VLDL contained particles which were varied in size and shape. LDL1 showed similar appearance to VLDL. LDL2 contained discoidal particles. HDL fraction contained characteristic particles which formed rouleaux. The post-heparin lipolytic activity was very low in the proband and a brother. Unlike the patients with LCAT deficiency so far reported, these two patients had obvious jaundice and peripheral neuropathy. The UDP-glucuronyl transferase activity in a biopsied liver was very low in all patients, compared to normal, suggesting low UDP-glucuronyl transferase activity in the liver as one of the causes of jaundice. Only these three patients in the family had haptoglobin subtype 1-1. The proband was given 3H-labelled cholesterol perorally. The specific radioactivity of free and ester cholesterol was determined at appropriate intervals. The specific radioactivity of ester cholesterol increased at 5-11 hours after the ingestion and then decreased rapidly. On the other hand that of free cholesterol increased at 5-24 hours and decreased very slowly. The fatty acid pattern of ester cholesterol was determined by gas liquid chromatography. The ratio of oleic acid was very high and that of linoleic acid was very low, compared to normal. The results suggested that most of the esterified cholesterol in the plasma observed in LCAT deficiency was not formed from free cholesterol in the circulation but in the intestine as a constituent of chylomicron.
Japan Society of Clinical Chemistryの論文

A Report on a Japanese Family with LCAT Deficiency

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