[Hematological aspects of Gaucher disease].
OBJECTIVE
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.


CONCLUSIONS
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.


METHODS
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.
Costello
R
R
Département d'Hématologie, Assistance Publique des Hôpitaux de Marseille, Faculté de Médecine de Marseille, Université de la Méditerrané, Hôpital Nord, Chemin des Bourrelly, 13915 Marseille 20, France. regis.costello@free.fr
O'Callaghan
T
T
Baccini
V
V
Sébahoun
G
G
D000740:Anemia / Q000209:etiology; D003937:Diagnosis, Differential; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000503:physiopathology; D005962:Glucosylceramidase / Q000627:therapeutic use; D006402:Hematologic Diseases / Q000209:etiology*; D006801:Humans; D007150:Immunohistochemistry; D009101:Multiple Myeloma / Q000150:complications* / Q000175:diagnosis; D011994:Recombinant Proteins / Q000627:therapeutic use; D013163:Splenomegaly / Q000209:etiology; D013921:Thrombocytopenia / Q000209:etiology
D011994:Recombinant Proteins; C070292:alglucerase; D005962:Glucosylceramidase; C090568:imiglucerase