Twenty-Five Years Diagnosing Gauchers Disease in Spain, What We Have Learned?

Conclusion: In our population we have found that the classical main characteristics of GD1 adult patients at diagnosis has evolved to a less severe phenotype in the present century. Features like bone pain, anemia, thrombocytopenia, visceral involvement are decreasing in percentage and severity; in parallel mild genetic variants were more prevalent. These data suggest that we need to continue the efforts on training in young hematologist to increase the awareness and visibility of disease, also among primary care providers in order to improve the early diagnosis.DisclosuresNo relevant conflicts of interest to declare.

Source: Blood - November 21, 2018 Category: Hematology Authors: Andrade-Campos, M. M., Capablo, J. L., Fraile, J. J., Roca-Espiau, M., Irun, P., Cebolla, J. J., Lopez de Frutos, L., Arenaz, I., Villarrubia, J., Barez, A., Cano, H., Molero, T., Villalon, L., Giraldo, P. Tags: 201. Granulocytes, Monocytes, and Macrophages: Poster I Source Type: research