Choroba Wolmana

Wolman disease is an autosomal recessive storage disorder caused by a deficient activity of lysosomal acid lipase (LAL). The disease leads to massive accumulation of triglycerides and cholesteryl esters in most tissues of the body and is nearly always fatal in infancy. The abnormality of lipid metabolism becomes clinically evident in the first weeks of life. Progressive hepatosplenomegaly, vomiting, steatorrhea, failure to thrive and adrenal calcification are major clinical findings. The diagnosis of Wolman disease requires clinical experience and specialized laboratory tests. The diagnosis is based on finding absent activity of acid lipase and/or molecular tests. Early diagnosis is particularly important for bone marrow transplantation and in the near future enzyme replacement therapy. Human trials with recombinant LAL are currently underway, raising the prospect for specific correction of LAL deficiency in Wolman disease. Cholesteryl ester storage disease is caused by a partially deficient activity of lysosomal acid lipase and has a more variable clinical course. The purpose of this review is to present diagnostic difficulties associated with clinical picture of Wolman disease, biochemical and genetic methods used to confirm the diagnosis and therapeutic possibilities.