Differential Diagnosis of a Patient With Lysosomal Acid Lipase Deficiency

A Case Report

Ashwin S. Akki, MD, PhD; Sun M. Chung, MD; Bryan J. Rudolph, MD, MPH; Michelle R. Ewart, MD


Lab Med. 2018;49(4):377-384. 

In This Article


LAL-D is a rare but progressive metabolic disease caused by reduced lysosomal acid lipase enzyme activity levels. Cholesterol esters and triglycerides eventually accumulate within intracellular lysosomes, resulting in the characteristic biochemical findings of elevated serum ALT, LDL-C, and low HDL-C levels. Clinically, patients may present with neonatal liver failure or can be asymptomatic and develop progressive liver disease later in life, depending on the degree of enzyme deficiency. Either way, LAL-D can be difficult to recognize clinically, and surgical pathologists can be instrumental in diagnosing cases if any of the classic histopathologic findings—microvesicular steatosis, mixed steatosis, or clusters of foamy histiocytes in the lobules and/or portal areas—are present.