Authors: Randolph P. Matthews, MD, PhD; Barbara A. Haber, MD; Petar Mamula, MDSeries Editors: David A. Piccoli, MD; Petar Mamula, MD

Disclosures

May 03, 2004

Discussion

An electron microscopy was performed (Figure 2) which revealed macrophages containing clefts of needle-like crystals (arrows). The acid lipase level of "0" in white blood cells confirmed the diagnosis of cholesterol ester storage disease suggested by the electron microscopy.

Electron micrograph.

Cholesterol ester storage disease is an autosomal recessive lysosomal storage disease caused by a deficiency in acid lipase activity, resulting in the accumulation of cholesterol esters and elevated serum cholesterol. The liver disease is progressive and can lead to cirrhosis and portal hypertension. It can present at any age, and affected individuals are at risk of early atherosclerosis. The infantile form, termed Wolman's disease, is often rapidly progressive and fatal. There is no specific therapy available; the disease is managed through cholesterol-lowering agents and diet. In the future, gene and lysosomal acid lipase enzyme therapy may be possible.

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