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. 2016 May;18(5):452-8.
doi: 10.1038/gim.2015.108. Epub 2015 Aug 27.

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

Simon A Jones  1 , Vassili Valayannopoulos  2 , Eugene Schneider  3 , Stephen Eckert  3 , Maryam Banikazemi  4 , Martin Bialer  5 , Stephen Cederbaum  6 , Alicia Chan  7 , Anil Dhawan  8 , Maja Di Rocco  9 , Jennifer Domm  10 , Gregory M Enns  11 , David Finegold  12 , J Jay Gargus  13 , Ornella Guardamagna  14 , Christian Hendriksz  15 , Iman G Mahmoud  16 , Julian Raiman  17 , Laila A Selim  16 , Chester B Whitley  18 , Osama Zaki  19 , Anthony G Quinn  3
Affiliations

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

Simon A Jones et al. Genet Med. 2016 May.

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.Genet Med 18 5, 452-458.

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Figures

Figure 1
Figure 1
Spaghetti plot of (a) alanine aminotransferase (ALT) and (b) bilirubin changes over time in infants with lysosomal acid lipase deficiency.
Figure 2
Figure 2
Kaplan–Meier plot of time from birth to death in the (a) overall population and (b) infants with early growth failure. Top line is “Upper 95% Confidence Limit”, Middle line is “Survival Function Estimate” and bottom line is “Lower 95% Confidence Limit”.
See this image and copyright information in PMC

References

    1. Lysosomal acid lipase deficiency (#278000). http://www.omim.org/entry/278000. Published 18 July 2012. Accessed 19 November 2013.
    1. Grabowski G, Charnas L, Du H. Lysosomal acid lipase deficiencies: the Wolman disease/cholesteryl ester storage disease spectrum. In: Beaudet A, Vogelstein B, Kinzler K, Antonarakis S, Ballabio A (eds). The Metabolic and Molecular Basis of Inherited Metabolic Disease, 8th edn. McGraw-Hill: New York, 2012. http://ommbid.mhmedical.com/content.aspx?bookid=474&sectionid=45374143. Accessed 21 November 2013.
    1. Wolman M. Wolman disease and its treatment. Clin Pediatr (Phila) 1995;34:207–212. - PubMed
    1. Bernstein DL, Hülkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol 2013;58:1230–1243. - PubMed
    1. Marshall WC, Ockenden BG, Fosbrooke AS, Cumings JN. Wolman's disease. A rare lipidosis with adrenal calcification. Arch Dis Child 1969;44:331–341. - PMC - PubMed

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