Wolman disease is a severe infant form of lysosomal acid lipase deficiency

• Anna V. Degtyareva
• Anna A. Puchkova
• Svetlana I. Zhdanova
• Dmitriy N. Degtyarev

Abstract

The article presents a rare, rapidly progressing disease, timely diagnosis and specific therapy of which is highly effective and, currently, available in Russian Federation. Based on a literature review, the article highlights the prevalence, clinical features of the course, modern methods of diagnosis based on the determination of the activity of the enzyme lysosomal acid lipase in dry blood spots, and treatment. Deficiency of lysosomal acid lipase is a rare hereditary disease, based on impaired metabolism of esterified cholesterol and triglycerides and their subsequent accumulation in the lysosomes of cells. Currently, there are an early onset or severe infant form, historically called Wolman disease with manifestation in first weeks of life in form of vomiting, diarrhea, loss of body weight in combination with hepatomegaly, and a variant of late onset of the disease that starts in older children or in adults and presented with dyslipidemia, early atherosclerosis, hepatosplenomegaly, fibrosis or cirrhosis of the liver.

Keywords:lysosomal acid lipase deficiency, Wolman disease, cholesteryl ester storage disease, sebelipase alpha

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