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Cited by 314

The DOI matches its Crossref record; 68 of the 68 references it cites were found in a registry or an index.

Lysosomal acid lipase deficiency – An under-recognized cause of dyslipidaemia and liver dysfunction

Open access
Reiner, Željko, Guardamagna, Ornella, Nair, Devaki, Soran, Handrean, Hovingh, Kees, Bertolini, Stefano, Jones, Simon, Ćorić, Marijana, Calandra, Sebastiano, Hamilton, John, Eagleton, Terence, Ros, Emilio·2014·Atherosclerosis
DOI 10.1016/j.atherosclerosis.2014.04.003
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Abstract

Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage disease caused by deleterious mutations in the LIPA gene. The age at onset and rate of progression vary greatly and this may relate to the nature of the underlying mutations. Patients presenting in infancy have the most rapidly progressive disease, developing signs and symptoms in the first weeks of life and rarely surviving beyond 6 months of age. Children and adults typically present with some combination of dyslipidaemia, hepatomegaly, elevated transaminases, and microvesicular hepatosteatosis on biopsy. Liver damage with progression to fibrosis, cirrhosis and liver failure occurs in a large proportion of patients. Elevated low-density lipoprotein cholesterol levels and decreased high-density lipoprotein cholesterol levels are common features, and cardiovascular disease may manifest as early as childhood. Given that these clinical manifestations are shared with other cardiovascular, liver and metabolic diseases, it is not surprising that LAL-D is under-recognized in clinical practice. This article provides practical guidance to lipidologists, endocrinologists, cardiologists and hepatologists on how to recognize individuals with this life-limiting disease. A diagnostic algorithm is proposed with a view to achieving definitive diagnosis using a recently developed blood test for lysosomal acid lipase. Finally, current management options are reviewed in light of the ongoing development of enzyme replacement therapy with sebelipase alfa (Synageva BioPharma Corp., Lexington, MA, USA), a recombinant human lysosomal acid lipase enzyme.

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Metadata

Authors
Reiner, Ž., Guardamagna, O., Nair, D., Soran, H., Hovingh, K., Bertolini, S., Jones, S., Ćorić, M., Calandra, S., Hamilton, J., Eagleton, T., & Ros, E.
Venue
Atherosclerosis
Publisher
Elsevier BV
Published
2014-07
Volume
235
Issue
1
Pages
21-30
ISSN
0021-9150 (ISSN-L)
DOI
10.1016/j.atherosclerosis.2014.04.003
OpenAlex
W1997618612
Cited by
314
References
68
FWCI
18.08
Type
journal article
Language
en
Open access
hybrid

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CoChat. (2026). Citation check: Lysosomal acid lipase deficiency – An under-recognized cause of dyslipidaemia and liver dysfunction. https://app.cochat.ai/papers/10.1016/j.atherosclerosis.2014.04.003
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Reiner, Ž., Guardamagna, O., Nair, D., Soran, H., Hovingh, K., Bertolini, S., Jones, S., Ćorić, M., Calandra, S., Hamilton, J., Eagleton, T., & Ros, E. (2014). Lysosomal acid lipase deficiency – An under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis. https://doi.org/10.1016/j.atherosclerosis.2014.04.003

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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.