Combined Hepatocellular-Cholangiocarcinoma in a Patient with Cirrhosis due to Cholesteryl Ester Storage Disease.

Lysosomal acid lipase deficiency (LAL-D) results from different mutations in the lipase A (LIPA) gene and may result in two different phenotypes, the infantile-onset Wolman disease and the later onset cholesteryl ester storage disease (CESD). This enzyme defect results in accumulation of cholesteryl esters and triglycerides in the lysosomes of hepatocytes, Kupffer cells and other macrophage/monocyte cells causing multi-organ damage in the liver, spleen, blood vessels walls and gastrointestinal tract. To date, it has not been possible to establish a genotype/phenotype correlation, as this is a very rare disease, so reporting these cases is relevant to continue accumulating information on the behavior of this disease. We report the case of a patient who presented a combined hepatocellular-cholangiocarcinoma as a complication of cirrhosis due to cholesteryl ester storage disease, a complication not previously reported in this group of patients. This article is protected by copyright. All rights reserved.