Depletion of high-density lipoprotein and appearance of triglyceride-rich low-density lipoprotein in a Japanese patient with FIC1 deficiency manifesting benign recurrent intrahepatic cholestasis.

[benign recurrent intrahepatic cholestasis]

Lipoprotein metabolism in FIC 1 deficiency due to ATP 8 B 1 mutations has never been studied sufficiently . This study was performed to investigate the detailed lipoprotein metabolism in benign recurrent intrahepatic cholestasis (BRIC ) caused by FIC 1 deficiency .Lipoprotein profile and major lipoprotein regulators such as lecithin :cholesterol acyltransferase (LCAT ), hepatic triglyceride lipase (HTGL ), lipoprotein lipase , and cholesteryl ester transfer protein in a Japanese patient with BRIC were serially examined during a bout of cholestasis . Liver expression of farnesoid X receptor (FXR ), which suppresses high -density lipoprotein (HDL ) generation , was also examined .Hypercholesterolemia and lipoprotein X accumulation were never observed throughout this study . When the cholestasis was severe , triglyceride-rich low -density lipoprotein (LDL ) accounted for most of the plasma lipoproteins whereas HDL was hardly detectable . Concurrently , activities of all regulators were decreased , together with decreases of the serum parameter for liver protein synthesis . In particular , suppressions of LCAT and HTGL activities were severe and greatly contributed to the appearance of triglyceride-rich LDL . As the cholestasis improved , this LDL gradually transformed into normal LDL with the recoveries of LCAT and HTGL activities . The activities of all regulators for the last 1 to 2 months were normal but HDL remained depleted . His liver showed low FXR expression compared with control livers .The present study showed an appearance of triglyceride-rich LDL due to suppressions of LCAT and HTGL activities and a depletion of HDL that is not able to be explained by lipoprotein regulators or FXR in our patient .

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Diseases presenting "detailed lipoprotein metabolism in benign recurrent intrahepatic cholestasis" symptom

benign recurrent intrahepatic cholestasis

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