Liječnički vjesnik, Vol. 137 No. 3-4, 2015.
Professional paper
LYSOSOMAL ACID LIPASE DEFICIENCY IN CHILDREN: OUR EXPERIENCE AND A NOVEL POSSIBILITY OF ENZYME REPLACEMENT THERAPY
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
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.
Keywords
Wolman disease – genetics, diagnosis, metabolism, drug therapy; Cholesterol ester storage disease – genetics, diagnosis, metabolism, drug therapy; Sterol esterase – genetics, deficiency, therapeutic use; Cholesterol esters – metabolism; Triglycerides – metabolism; Lysosomes – enzymology; Recombinant proteins – therapeutic use; Enzyme replacement therapy
Hrčak ID:
172686
URI
Publication date:
5.5.2015.
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