Managing Lysosomal Acid Lipase Deficiency

摘要

Lysosomal acid iipase deficiency (LAL-D), also known collectively as Woiman's disease and cholesteryl ester storage disease, is a heterogenous disease due to the absence or reduction of LAL enzyme activity. It is considered an ultrarare disease with limited prevalence data availabSe; however, the literature suggests a prevalence of 8 to 25 per million, depending on ethnicity and geographical location. LAL-D can be characterized by the accumulation and buildup of cholesteryl esters and triglycerides in the liver, spleen, and other organs. Management of LAL-D consists of enzyme-replacement therapy, along with symptomatic treatment of associated complications and, possibly, surgery for complicated organ disease.