The Challenge Of Unexplained Splenomegalies: Preliminary Data Of The French Prospective Multi-Center Splenomegaly Study (Sms)

Introduction: The most prevalent etiologies of splenomegaly (SM) easily detected by routine clinical practice are hematological malignancies, portal hypertensions (PH), and hemolytic anemias. However, after these first line diagnoses are ruled out, many cases of SM can remain unexplained. At this point, diagnosis becomes challenging due to the fact that many signs and symptoms can be non-specific, and SM could also be associated to rarer etiologies, such as lysosomal storage diseases (LSD) (e.g. Gaucher disease, acid sphingomyelinase deficiency (Niemann Pick Diseases)). The SplenoMegaly Study (SMS) is a prospective, observational, multi-center, and longitudinal study ongoing in France, which aims to estimate the prevalence of the different etiologies of unexplained SM. We present here preliminary descriptive data on the patients' characteristics and their established diagnosis at follow-up.