[Hematological aspects of Gaucher disease]

Gaucher disease is the most frequent lysosomal storage disease, and corresponds to an inherited deficiency of glucocerebrosidase. Due to excessive accumulation of glucocerebroside in bone marrow, cytopenia and bone lesions occur.

The clinical signs at diagnosis include frequently anaemia, thrombopenia and splenomegaly. The hematologist is often in first line of the diagnosis, but it must avoid certain diagnostic traps (pseudo-Gaucher cells or even pseudo-pseudo-Gaucher cells in certain crystal storage diseases). The treatment of substitution when adequately carried out generally makes it possible to quickly improve the hematologic parameters. Another hematologic aspect must be evoked in Gaucher disease, i.e. the incidence of associated malignant pathologies and more particularly of multiple myeloma. Many cases of association between multiple myeloma and Gaucher disease have been reported in the literature. Recently two important series demonstrated the nonfortuitous character of this association.

The physiopathological links which could connect myeloma and Gaucher disease are not known to date. Immune network imbalance could be an interesting hypothesis that should require further investigations.