Wolman's disease E75.5
Synonym(s)
Primary familial xanthomatosis involving the adrenal glands; Xanthomatosis primary familial with adrenal involvement
Definition
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Generalized xanthomatosis with intracellular lipid storage without hyperlipoproteinemia.
Etiopathogenesis
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Autosomal recessive inheritance. Lack of acid lipase with degradation of triglycerides and cholesterol esters.
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Manifestation
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Infancy
Clinic
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Vomiting, hepatosplenomegaly, icterus, failure to thrive. Radiological calcification of the adrenal glands is detectable.
Laboratory
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Reduction or absence of alpha-lipoproteins.
Therapy
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Causally not possible, symptomatic. Working with the pediatrician. Exitus lethalis usually in the first year of life.
Progression/forecast
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Death mostly in the 1st year of life.
Literature
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- Alabbas Fet al. (2021) Wolman's disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review. BMC Pediatr 21:72.
- Aguisanda F et al (2017) Targeting Wolman disease and cholesteryl ester storage disease: disease pathogenesis and therapeutic development. Curr Chem Genome Transl Med 11:1-18.
Recommended articles
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Xanthomatosis, primary familial with adrenal involvement;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
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Prof. Dr. med. Peter Altmeyer