Valdepenas

The study focuses on patients with splenomegaly or those who have undergone splenectomy without a clear diagnosis, as well as patients with thrombocytopenia. Researchers aim to improve diagnosis sensitivity for Gaucher disease (GD) and Acid Sphingomyelinase Deficiency (ASMD) among these patients, especially in those with monoclonal gammopathies of undetermined significance (MGUS) or multiple myeloma (MM). Previous research suggests increased frequency of MGUS and MM in GD and ASMD patients, but many cases of splenomegaly remain unexplained despite standard evaluations. The study involves the use of usual clinical diagnostic procedures alongside collecting blood samples for a dry drop test (DBS) to measure enzymatic and genetic activity related to GD and ASMD. Analysis of specific markers LisoGl1 and LisoSM will also be conducted. The investigation seeks to identify the prevalence of these diseases in the patient population over a 36-month period. Participants will undergo clinical evaluation, blood testing, and enzymatic/genetic assessments to help identify GD and ASMD. Researchers will monitor the prevalence of these diseases and related conditions throughout the study. The study includes adult patients aged 18 to 99 years, and those who participate will provide consent for assessments and follow-up. Safety and diagnostic results will be observed during the entire study duration.