Gaucher disease and multiple myeloma.
Gaucher disease (GD) is the most frequent lysosomal storage disease and corresponds to an inherited deficiency of glucocerebrosidase. Due to excessive accumulation of glucocerebroside in bone marrow, both cytopenia and bone lesions may occur. The incidence of malignant disorders has been evoked in non-neuronopathic type I GD. More particularly, many case reports have been published that describe the association between GD and multiple myeloma (MM). Here, we first deal with diagnosis criteria that allow to distinguish between bona fide Gaucher celles and the so-called pseudo or pseudo-pseudo Gaucher cells. We then analyse relevant case reports and recent articles that provide convincing data regarding GD and MM association and suggest physiopathological links between the two disorders.
Costello
Régis
R
Département d'Hématologie, Hôpital Nord, Assistance Publique des Hôpitaux de Marseille, Faculté de Médecine de Marseille, Université de la Méditerranée, Marseille, France. regis.costello@free.fr
O'Callaghan
Thérèse
T
Sébahoun
Gérard
G
D000368:Aged; D003937:Diagnosis, Differential; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis*; D005962:Glucosylceramidase / Q000378:metabolism; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000150:complications* / Q000175:diagnosis*; D008264:Macrophages / Q000473:pathology; D008875:Middle Aged; D009101:Multiple Myeloma / Q000150:complications* / Q000175:diagnosis*
D005962:Glucosylceramidase