7 Pathological features

Gaucher's disease is the most common lysosomal storage disease. The pathological features are a consequence of the progressive accumulation of glucosylceramide within mononuclear phagocytes. A wide variety of gross and microscopic anatomical changes are seen, primarily in the bone marrow, liver, spleen and bones. It is probable that cellular reactions to the presence of Gaucher cells (‘lipid-engorged’ macrophages) contribute to the tissue damage observed in this disease, although only a few investigations have been undertaken to elucidate what, if any, other mechanisms may play a contributory role in defining individual disease outcome. The general clinico-pathological features of Gaucher's disease are reviewed herein, with exclusion of the central nervous system and skin involvement, which are covered elsewhere.