Wolman's Disease - Genetic Disorders FAQs

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Rakesh Kumar, Binay Ranjan, Manjul Vijay Department of Pediatrics, Katihar medical college, Katihar...

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	Specialist Answers
Question
Sir, I Want to know about Wolman's disease.
Answer
Wolman's disease is a rare autosomal recessive lysosomal storage disease. The disease was first described by Wolman in 1956. The biochemical defect is in the lysosomal acid cholesteryl hydrolase, the gene of which is located on chromosome 10q23.2-q23.3 In Wolman's disease, the LDL triglycerides, triglycerides and cholesteryl esters that enter the cells cannot be hydrolyzed, due to the deficiency of lysosomal acid lipase. On the other hand, breakdown of HDL triglycerides that require the cytosolic neutral lipase are not impaired. The consequence of disrupted acid lipase action appears mainly in the adrenal glands, reticulo-endothelial system and intestinal mucosa. A constant feature of the disease in adrenal gland is focal calcification due to necrosis of adrenocortical cells that are overloaded with hydrophobic lipids. The reticulo-endothelial system promotes endocytosis of lipoproteins in the spleen, liver and lymph nodes. These cells cannot get rid of these fatty esters, because they lack the acid lipase. Therefore, in Wolman's disease, they are swollen and transformed into foam cells. Bone marrow aspirate always shows the presence of foamy histiocytes. Back to All Questions

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