[Lysosomal acid lipase deficiency in children: our experience and a novel possibility of enzyme replacement therapy].

Abstract

Lysosomal acid lipase deficiency is an autosomal recessive disorder with two distinct clinical phenotypes. Wolman disease is rapidly progressive with onset in early infancy. Complete enzyme deficiency results in massive accumulation of cholesterol esters and triglycerides in intestines, liver, spleen and other monocyte-macrophage system cells causing malabsorption, hepatosplenomegaly, liver failure and death in early infancy. Cholesterol ester storage disease may be diagnosed in childhood or later in life. It is characterized by chronic course and variable progression. Main features are variously expressed hepatopathy, including cirrhosis and liver failure, hypercholesterolemia and premature atherosclerosis. Characteristic is pathohistological finding of microvesicular steatosis and fibrosis and patognomonic are typical cholesterol ester crystals. Diagnosis is confirmed by enzyme assay and/or gene analysis. Until recently treatment was symptomatic. Ongoing clinical trials of enzyme replacement therapy have shown very promising results. We are presenting an infant with Wolman disease and two children with cholesterol ester storage disease with the aim to raise awareness about this disease and to start optimal care early.

• Authors: Danijela Petković Ramadža, Mario Ćuk, Karin Zibar, Marina Barić, Vladimir Sarnavka, Karmen Bilić, Ksenija Fumić, Jurica Vuković, Silvija Pušeljić, Marijana Ćorić, Ranka Štern Padovan, Marko Kralik, Ivo Barić
• Journal: Lijecnicki vjesnik (Lijec Vjesn) 2015 Mar-Apr Vol. 137 Issue 3-4 Pg. 81-7 ISSN: 0024-3477 [Print] Croatia
• Vernacular Title: Manjak lizosomske kisele lipaze u djece: vlastita iskustva i nova mogućnost enzimskoga nadomjesnog liječenja.
• PMID: 26065284 (Publication Type: Journal Article)

Topics

• Child
• Cholesterol Ester Storage Disease (complications, diagnosis, drug therapy)
• Enzyme Replacement Therapy
• Humans
• Infant
• Wolman Disease (complications, diagnosis, drug therapy)
• Wolman Disease