Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature

• DOI: 10.1007/s00277-008-0441-8
• Publication Date: 2008-02-14T15:12:01Z
• Authors: M. de Fost; T. A. Out; F. A. de Wilde; E. P. M. Tjin; S. T. Pals; M. H. J. van Oers; R. G. Boot; J. F. M. G. Aerts; M. Maas; S. vom Dahl; C. E. M. Hollak
• Keywords: Adult; Aged, 80 and over; Male; 0301 basic medicine; Gaucher Disease; free light chains; Paraproteinemias; Immunoglobulins; Gaucher disease; Hematology; Middle Aged; cytokines; 3. Good health; multiple myeloma; Cohort Studies; 03 medical and health sciences; Bone Marrow; MGUS; Splenectomy; Humans; Original Article; Female; Immunoglobulin Light Chains; Aged

Gaucher disease type I, the most common lysosomal storage disorder, is associated with immunoglobulin abnormalities. We studied prevalence, risk factors, pathogenesis, and effect of enzyme relation therapy (ERT) on gammopathies in an adult I cohort (N = 63) related results to a review currently available literature. Polyclonal monoclonal gammopathy undetermined significance (MGUS) our GD were found 41% 19% patients. These are similar data from literature correspond increased multiple myeloma (MM) that has been described. The prevalence MGUS age but was not severity or exposure time. serum levels free light chains immunoglobulins measured predictive for development MM. Levels pro- as well anti-inflammatory cytokines, growth chemokines, especially those involved inflammation B-cell function, disturbed impressive consisting elevations interleukin-10 pulmonary activation-regulated chemokine. A beneficial ERT occurrence progression suggested longitudinal data.