Choroba spichrzania estrów cholesterolu

Cholesteryl ester storage disease (CESD) is an autosomal recessive lysosomal storage disorder caused by a deficient activity of lysosomal acid lipase. The disease leads to accumulation of triglycerides and cholesteryl esters in most tissues of the body. The abnormality of lipid metabolism often becomes clinically evident in the first or second decade of life. Hepatosplenomegaly caused by hepatic steatosis often leads to fibrosis and cirrhosis. Hypercholesterolemia as a result of upregulation of hepatic apolipoprotein B-100 synthesis and low plasma levels of high density lipoproteins (HDL) may lead to premature atherosclerosis and vascular complications. The diagnosis of CESD requires clinical experience and specialized laboratory tests. It should be considered in the differential diagnosis of chronic liver disease of unknown etiology (atypical fatty liver disease in the absence of overweight) and in dyslipidemic patients with combined hyperlipidemia and low HDL cholesterol. The diagnosis is based on finding deficient activity of acid lipase and/or molecular tests. Early diagnosis is particularly important for the enzyme replacement therapy. Human trials with recombinant LAL are currently underway, raising the prospect for specific correction of LAL deficiency in CESD. The purpose of this review is to present diagnostic difficulties associated with clinical picture of CESD, biochemical and genetic methods used to confirm the diagnosis and therapeutic possibilities.