Valdepenas

Researchers are studying patients with splenomegaly or those who have had a splenectomy without a known cause, focusing on the possible presence of Gaucher disease GD and Acid Sphingomyelinase Deficiency ASMD. These conditions may be linked to monoclonal gammopathy of undetermined significance MGUS and multiple myeloma MM, which have been found more frequently among Gaucher and ASMD patients. The study aims to improve diagnosis of unknown causes of splenomegaly and undiagnosed cases of MGUS or MM in these patients. The study involves using standard diagnostic procedures for unknown splenomegaly and splenectomy patients, including collecting blood samples for a dry drop test DBS. This test measures enzymatic and genetic activity related to Gaucher disease and ASMD, alongside analysis of LisoGl1 and LisoSM biomarkers. No specific treatment or intervention is applied since this is an observational study. Participants will undergo clinical evaluations and blood sampling to help identify the prevalence of Gaucher disease and ASMD over a 36-month period. Researchers will track how many patients with unknown splenomegaly or MGUSMM have these enzyme deficiencies. The study is observational, with no treatment assigned, and participants will be monitored during their routine medical consultations throughout the study duration.