TY - JOUR
T1 - Lysosomal acid lipase deficiency unmasked in two children with nonalcoholic fatty liver disease
AU - Himes, Ryan W.
AU - Barlow, Sarah E.
AU - Bove, Kevin
AU - Quintanilla, Norma M.
AU - Sheridan, Rachel
AU - Kohli, Rohit
N1 - Publisher Copyright:
© 2016 by the American Academy of Pediatrics.
PY - 2016/10
Y1 - 2016/10
N2 - Lysosomal acid lipase deficiency (LAL-D) is a classic lysosomal storage disorder characterized by accumulation of cholesteryl ester and triglyceride. Although it is associated with progressive liver injury, fibrosis, and end-stage liver disease in children and adolescents, LAL-D frequently presents with nonspecific signs that overlap substantially with other, more common, chronic conditions like nonalcoholic fatty liver disease (NAFLD), metabolic syndrome, and certain inherited dyslipidemias. We present 2 children with NAFLD who achieved clinically significant weight reduction through healthy eating and exercise, but who failed to have the anticipated improvements in aminotransferases and ã-glutamyl transferase. Liver biopsies performed for these "treatment failures" demonstrated significant microvesicular steatosis, prompting consideration of coexisting metabolic diseases. In both patients, lysosomal acid lipase activity was low and LIPA gene testing confirmed LAL-D. We propose that LAL-D should be considered in the differential diagnosis when liver indices in patients with NAFLD fail to improve in the face of appropriate body weight reduction.
AB - Lysosomal acid lipase deficiency (LAL-D) is a classic lysosomal storage disorder characterized by accumulation of cholesteryl ester and triglyceride. Although it is associated with progressive liver injury, fibrosis, and end-stage liver disease in children and adolescents, LAL-D frequently presents with nonspecific signs that overlap substantially with other, more common, chronic conditions like nonalcoholic fatty liver disease (NAFLD), metabolic syndrome, and certain inherited dyslipidemias. We present 2 children with NAFLD who achieved clinically significant weight reduction through healthy eating and exercise, but who failed to have the anticipated improvements in aminotransferases and ã-glutamyl transferase. Liver biopsies performed for these "treatment failures" demonstrated significant microvesicular steatosis, prompting consideration of coexisting metabolic diseases. In both patients, lysosomal acid lipase activity was low and LIPA gene testing confirmed LAL-D. We propose that LAL-D should be considered in the differential diagnosis when liver indices in patients with NAFLD fail to improve in the face of appropriate body weight reduction.
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U2 - 10.1542/peds.2016-0214
DO - 10.1542/peds.2016-0214
M3 - Article
C2 - 27624512
AN - SCOPUS:84991000757
SN - 0031-4005
VL - 138
JO - Pediatrics
JF - Pediatrics
IS - 4
M1 - e20160214
ER -