Gaucher disease and monoclonal gammopathy: a report of 17 cases and impact of therapy.

摘要

Goldfarb et al. [1] were the first to demonstrate a link between Gaucher disease (GD) and polyclonal gammopathy. As the disease progresses, it can culminate in monoclonal gammopathy of undetermined significance (MGUS)-first described in GD patients by Osserman [2]. The first case ofGD-associated myeloma was reported by Pinkhas [3]. We performed a retrospective study to assess the prevalence of MG in GD and the effect of GD therapy on the level of MG. A cross-sectional survey of patients with GD-the French Observatoire on Gaucher Disease (FROG)-was conducted in 45 French centers. All patients over 18 years of age with proven GD were eligible, regardless of the phenotype. The patients were required to provide oral consent for their data to be computerized, in keeping with French legislation. The precise category of MG was determined by immunofixation. Serum levels of the monoclonal component were analyzed at diagnosis and at last follow-up. The percentage of variation of serum level monoclonal component measured on serum protein (SPE) defined three situations : progression if the increase was more than 25 %, decrease if the diminution was more than 25 %, stable if the variation ranged between 25 % and + 25 %. Disappearance of MG was defined by normal SPE and immunofixation. Results are expressed as means (standard deviation, SD) or medians (range) for continuous variables, and as numbers (percentages) for binary and categorical variables. Percentages were based on the number of patients for whom the relevant information was available. All comparisons were two-sided. Continuous variables were compared with Student's t-test. Categorical variables were compared using the chi2 test or Fisher's exact test.