Would You Figure It Out? Differential Diagnoses: Beyond the Usual - European Medical Journal

Would You Figure It Out? Differential Diagnoses: Beyond the Usual

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Vlad Ratziu1
Lauren Johansen,2 Christophe Moreno,3 Ali Canbay,4 Mark Bechter5

Speakers participating in this symposium received an honorarium from Synageva BioPharma. Any patient cases and treatments discussed are referred to in the context of contemporary knowledge and medical practice in the field.


Writing assistance was provided by Dr Evelyn Albu and Dr Heather Lasseter of Percolation Communications LLC.


The publication of this article was funded by Synageva BioPharma. The views and opinions expressed are those of the authors and were based on information and data that were available at the time.

EMJ Hepatol. ;3[2]:60-67. DOI/10.33590/emjhepatol/10312324. https://doi.org/10.33590/emjhepatol/10312324.

Each article is made available under the terms of the Creative Commons Attribution-Non Commercial 4.0 License.

Meeting Summary

The Synageva BioPharma-sponsored symposium discussed the differential diagnoses for liver diseases that may be under-recognised in clinical settings, with a focus on lysosomal acid lipase deficiency (LAL D). LAL D is a lysosomal storage disorder caused by deficient activity of the lysosomal acid lipase enzyme, resulting in the accumulation of cholesteryl esters and triglycerides throughout the body, predominantly in the liver, spleen, gastrointestinal tract, and blood vessel walls. LAL D is a progressive, multisystem disease with early mortality and significant morbidity that is characterised by hepatic dysfunction and dyslipidaemia. Evidence suggests that LAL D may be substantially underdiagnosed or misdiagnosed, which is critical given that disease progression can be unpredictable, with liver failure and/or accelerated atherosclerosis potentially contributing to early mortality. However, a definitive diagnosis of LAL D can be made using a LAL enzyme-based biochemical test, thereby allowing for active monitoring of patients to reduce the potential for disease complications. To raise awareness of LAL D, this symposium, chaired by Prof Vlad Ratziu, centered on the presentation of patient cases by Dr Lauren Johansen, Prof Christophe Moreno, and Prof Ali Canbay, who discussed the path to diagnosing LAL D in children and adults. In addition, Dr Mark Bechter of Synageva BioPharma provided an overview of current data from an ongoing Phase III clinical trial assessing the efficacy and safety of sebelipase alfa, a recombinant LAL replacement therapy, in children and adults with LAL D.

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