S2581 LAL-D: A Rare Liver Disease

Abstract

Introduction: Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disease associated with abnormal liver enzyme elevation. Mutations in the LIPA gene cause lysosomal acid lipase deficiency with the inability to break down cholesteryl esters in the body. Cholesteryl ester storage disease is associated with an abnormal accumulation of cholesteryl ester and triglycerides in various organs, including the liver, spleen, intestinal mucosa, and lymph nodes, to name a few. There are very few cases of LAL-D reported in the adult population. Case Description/Methods: An 18-year-old male with no significant medical history presented to the outpatient hepatology clinic for evaluation of elevated liver enzymes. The physical exam was unremarkable. Further work-up revealed leukopenia, lymphocytopenia, and elevated INR. The lipid profile was unremarkable. Ultrasound of the liver revealed mild hepatomegaly, splenomegaly, and porta hepatis lymphadenopathy. CT of the abdomen with contrast revealed diffuse hypodense liver suggesting fatty liver disease, massive splenomegaly. Liver biopsy performed and revealed glycogenic hepatopathy with periportal and focal bridging fibrosis. The patient also underwent an esophagogastroduodenoscopy with biopsy, which showed clear foamy appearing cytoplasm that contains PAS-positive and diastase-resistant material. Chronic liver disease work-up was unrevealing except for positivity for alpha-1-antitrypsin deficiency carrier (MZ phenotype). Measurement of liposomal acid lipase in the leukocytes from the blood sample was zero (0) with genetic testing confirmation of LAL-D. The patient was referred to the transplant center to initiate the lysosomal acid lipase infusion treatment with close follow-up. Discussion: Liver damage in cholesteryl ester storage disease may progress to hepatocellular failure along with fibrosis and micronodular cirrhosis. Commonly, patients are misdiagnosed with non-alcoholic fatty liver disease, non-alcoholic steatohepatitis, cryptogenic cirrhosis, heterozygous familial hypercholesterolemia. It is imperative that gastroenterologists are familiar with the diagnostic and therapeutic approaches for this rare illness termed lysosomal acid lipase deficiency.