A multi-center, investigator-initiated epidemiologic study is underway [clinical trial: NCT01633489] aiming to determine the proportion of adults affected by late-onset lysosomal acid lipase deficiency (LAL-D) using definitive genetic testing.
LAL-D is an autosomal recessive disease caused by mutations in the Iipase gene that lead to decreased or absent enzyme activity. Lack of such activity causes lysosomal accumulation of cholesteryl ester in various organs, including the liver, spleen and adrenals, which leads to morbidity and mortality.1 Transplant hepatologist Karen L. Krok, M.D., Penn State Hershey Gastroenterology and Hepatology, explains, “At Penn State Hershey and other study centers in Pennsylvania, adults with cryptogenic cirrhosis or nonalcoholic steatohepatitis [NASH] who are awaiting liver transplant will have the opportunity to be tested for LAL-D. The signs and symptoms of LAL-D are similar to other common conditions; however, 10 to 15 percent of patients have no comorbid condition like hepatitis, obesity, diabetes or alcohol use to explain the disease. (Learn more about clinical features of LAL-D in adults.) Continue reading