Deficiency of lysosomal acid lipase is a rare autosomal recessive lysosomal storage disease characterized by the accumulation of cholesteryl esters and triglycerides, predominantly in macrophages. Nonspecific clinical features such as gastrointestinal symptoms and weight loss often lead to delayed diagnosis. Enzyme-replacement therapy with sebelipase alfa, a recombinant form of lysosomal acid lipase, was prescribed. Six months after the initiation of treatment, the patient remains asymptomatic and her serum aminotransferase levels are normal.

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