Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

Simon A. Jones, Vassili Valayannopoulos, Eugene Schneider, Stephen Eckert, Maryam Banikazemi, Martin Bialer, Stephen Cederbaum, Alicia Chan, Anil Dhawan, Maja Di Rocco, Jennifer Domm, Gregory M. Enns, David Finegold, J. Jay Gargus, Ornella Guardamagna, Christian Hendriksz, Iman G. Mahmoud, Julian Raiman, Laila A. Selim, Chester B. WhitleyOsama Zaki, Anthony G. Quinn

Research output: Contribution to journalArticlepeer-review

31 Scopus citations

Abstract

Purpose:The purpose of this study was to enhance understanding of lysosomal acid lipase deficiency (LALD) in infancy.Methods:Investigators reviewed medical records of infants with LALD and summarized data for the overall population and for patients with and without early growth failure (GF). Kaplan-Meier survival analyses were conducted for the overall population and for treated and untreated patients.Results:Records for 35 patients, 26 with early GF, were analyzed. Prominent symptom manifestations included vomiting, diarrhea, and steatorrhea. Median age at death was 3.7 months; estimated probability of survival past age 12 months was 0.114 (95% confidence interval (CI): 0.009-0.220). Among patients with early GF, median age at death was 3.5 months; estimated probability of survival past age 12 months was 0.038 (95% CI: 0.000-0.112). Treated patients (hematopoietic stem cell transplant (HSCT), n = 9; HSCT and liver transplant, n = 1) in the overall population and the early GF subset survived longer than untreated patients, but survival was still poor (median age at death, 8.6 months).Conclusions:These data confirm and expand earlier insights on the progression and course of LALD presenting in infancy. Despite variations in the nature, onset, and severity of clinical manifestations, and treatment attempts, clinical outcome was poor.

Original languageEnglish (US)
Pages (from-to)452-458
Number of pages7
JournalGenetics in Medicine
Volume18
Issue number5
DOIs
StatePublished - May 1 2016

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