title: Diagnostic and therapeutic management of children with lysosomal acid lipase deficiency (LAL-D). Review of the literature and own experience.
abstract: Lysosomal acid lipase deficiency may present at any age (in infants, children and adults). Its presenting features commonly include elevated serum transaminase activity levels, hypercholesterolemia, fatty liver, progressive liver fibrosis, and cirrhosis. Nonspecific clinical manifestations can lead to a delay in the diagnosis of both children and adults. The early development of fibrosis and cirrhosis suggests that the lysosomal accumulation of cholesterol esters and triglycerides in the liver is a potent inducer of fibrosis. Elevated levels of low-density lipoprotein-cholesterol or low levels of high-density lipoprotein-cholesterol with elevated transaminase activity should raise the suspicion of lysosomal acid lipase deficiency in the diagnostic workup. Still, some patients may not present with abnormal triglyceride and cholesterol concentrations. Early onset LAL-D has a different clinical presentation, with acute symptoms, including liver failure, and can be confused with many other metabolic conditions or with lymphohistiocytosis. The dried blood spot test enables rapid diagnosis and should be widely applied when the cause of liver disease remains unknown.
authors.affiliation: Department of Biochemistry, Radioimmunology and Experimental Medicine, e-mail a.wierzbicka-rucińska@ipczd.pl.
authors.forename: Aldona
authors.initials: A
authors.lastname: Wierzbicka-Rucińska
authors.affiliation: Gastroenterology, Hepatology and Eating Disorders, Children's Health Memorial Institute, Warsaw, Poland.
authors.forename: Wojciech
authors.initials: W
authors.lastname: Jańczyk
authors.affiliation: Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Ługowska
authors.affiliation: Department of Pediatrics, Gastroenterology and Allergology, Medical University of Bialystok, Poland.
authors.forename: Dariusz
authors.initials: D
authors.lastname: Lebensztejn
authors.affiliation: Gastroenterology, Hepatology and Eating Disorders, Children's Health Memorial Institute, Warsaw, Poland.
authors.forename: Piotr
authors.initials: P
authors.lastname: Socha
mesh_terms: D018450:Disease Progression; D056947:Enzyme Replacement Therapy; D005260:Female; D006801:Humans; D008297:Male; D015223:Wolman Disease / Q000175:diagnosis* / Q000628:therapy*
keywords:  LIPA deficiency;  Wolman disease ;  cholesteryl ester storage disease; lysosomal acid lipase deficiency (LAL-D)