Abstract
Lysosomal acid lipase deficiency (DLK) is an autosomal recessive disease caused by mutations in the LIPA gene. Cholesterol ester accumulation disease (BNEH) is a clinical phenotype of DLCL characterized by lysosomal acid lipase (LCL) activity with residual enzymatic activity of 1–5%, manifested at a later age and characterized by slow progression (unlike the main classical phenotype of DLCL – Wolman's disease). As a rule, even with histological examination of the liver, such patients may be diagnosed with non-alcoholic fatty liver disease (NAFLD), non-alcoholic steatohepatitis (NASH) or cryptogenic liver disease. The use of recombinant human sebelipase alpha as a replacement therapy opens up opportunities for long-term and successful treatment of patients with DLKL. The presented clinical case illustrates the possibilities of diagnosing this rare disease, hidden under the mask of NAFLD and first identified at the age of 47 years.
Published Version
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