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标题：Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report
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作者：Dominik Soll ; Dominik Spira ; Tim Hollstein 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2019
卷号：20
页码：1-4
DOI：10.1016/j.ymgmr.2019.100479
出版社：Elsevier B.V.
摘要：We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A ( LIPA ) gene resulting in cholesteryl ester accumulation in liver, spleen, and macrophages. It can lead to liver failure, accelerated atherosclerosis and premature death. Until recently, treatment options were limited to lipid-lowering medications to control dyslipidemia. Presently, a long-term enzyme replacement therapy with Sebelipase alfa, a recombinant human lysosomal acid lipase, is available for patients with LALD. Our patient's condition became conspicuous at the age of two due to a xanthogranuloma of the chin together with increased lipid levels, elevated liver enzymes and hepatomegaly. It took another five years until our patient was diagnosed with LALD after genetic testing. A bi-weekly therapy with intravenous Sebelipase alfa was started at the age of 26 years. It led to normalization of lipid levels, reduction of liver enzymes and beginning regression of hepatomegaly in the absence of adverse drug reactions after 46 infusions. Since LALD can take a fatal course even in patients with a long-term stable condition, it is essential to identify affected patients early and to treat them appropriately by enzyme replacement therapy. LALD should be suspected in patients with low high-density lipoprotein cholesterol (HDL-C) and high low-density lipoprotein cholesterol (LDL-C) in conjunction with elevated liver enzymes or hepatomegaly. A registry for LALD patients shall help to advance our understanding of the disease as well as improve patient care ( NCT01633489 ).
关键词：Lysosomal acid lipase deficiency (LALD) ; Cholesteryl ester storage disease ; Sebelipase alfa (Kanuma™) ; LALD registry ; ALT Alanine aminotransferase ; AST Aspartate aminotransferase ; HDL-C High-density lipoprotein cholesterol ; LAL Lysosomal acid lipase ; LALD Lysosomal acid lipase deficiency ; LDL-C Low-density lipoprotein cholesterol ; LIPA Lysosomal acid lipase A ; SA Sebelipase alfa