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Gaucher’s Disease

  • Chapter
Lipids and Lipidoses

Abstract

Gaucher’s disease (GD) is an hereditary disorder of which over 350 cases have been described to date. The main clinical finding is hepatosplenomegaly. Typical histologic changes consist of the appearance of cerebroside–containing cells (Gau­cher cells) in the reticuloendothelial system (RES), mainly in spleen, liver, bone marrow and lymphatic tissues. Symptoms and signs of the disease may appear at any age. An acute picture is observed in infants, with evidence of central nervous system involvement. A chronic course is typical for adults. Reviews of GD have been published by Pick (1926/1933), Oberling and Woringer (1927), Atkinson (1938), Klenk et al. (1938), Reich et al. (1951), van Crefeld (1953), Schettler (1955), Thannhatjser (1958), Fredrickson and Hofmann (1960/66), Doss and Matiar-Vahar (1965) and others.

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Schettler, G., Kahlke, W. (1967). Gaucher’s Disease. In: Schettler, G. (eds) Lipids and Lipidoses. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-87367-6_9

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