Cholesteryl Ester Storage Disease: Risk Factors for Atherosclerosis in a 15-Year-Old Boy

Cholesteryl ester storage disease (CESD; McKusick 21500), an autosomal recessive inborn error of metabolism, is characterized by deficient activity of lysosomal acid lipase. This disorder, unlike the more dangerous expression of the deficiency state, Wolman’s disease, can allow patients to live a long time and may not be detected until adulthood, in spite of important biochemical abnormalities. One of these concerns the lipidaemic pattern and the related risk of developing early atherosclerosis due to a high serum total cholesterol and triglyceride levels coupled with very low high-density lipoprotein (HDL) values. As a consequence, a wide range of clinical pictures of the disease is possible, ranging from mild clinical expressions to life threatening ones. We describe here the case of a young subject affected by CESD, emphasizing the risk factors for the development of early atherosclerosis.