Lysosomal acid lipase deficiency may present at any age (in infants, children and adults). Its presenting features commonly include elevated serum transaminase activity levels, hypercholesterolemia, fatty liver, progressive liver fibrosis, and cirrhosis. Nonspecific clinical manifestations can lead to a delay in the diagnosis of both children and adults. The early development of fibrosis and cirrhosis suggests that the lysosomal accumulation of cholesterol esters and triglycerides in the liver is a potent inducer of fibrosis. Elevated levels of low-density lipoprotein-cholesterol or low levels of high-density lipoprotein-cholesterol with elevated transaminase activity should raise the suspicion of lysosomal acid lipase deficiency in the diagnostic workup. Still, some patients may not present with abnormal triglyceride and cholesterol concentrations. Early onset LAL-D has a different clinical presentation, with acute symptoms, including liver failure, and can be confused with many other metabolic conditions or with lymphohistiocytosis. The dried blood spot test enables rapid diagnosis and should be widely applied when the cause of liver disease remains unknown.
Keywords: LIPA deficiency; Wolman disease; cholesteryl ester storage disease; lysosomal acid lipase deficiency (LAL-D).