Primary Objective:

To estimate the prevalence of Gaucher disease and of other etiologies, in patients of 15 years old or more presenting with unexplained splenomegaly after exclusion of first intention-diagnoses (e.g. portal hypertension, diagnosis or suspicion of haematological malignancy, haemolytic anemia) based on basic physical and biological exams (e.g. full blood count, liver enzymes, reticulocytes)

Secondary Objective:

To describe the exams and tests conducted for diagnosis purpose and the more frequent associations

Study duration per participant is between 1 and 12 months

Inclusion criteria:

• Participants referred for the first time for splenomegaly exploration defined as :

  • Either a palpable mass on left upper abdominal quadrant, further confirmed by a ≥ 13 cm craniocaudal length on abdominal Imaging
  • Or a non palpable splenomegaly discovered on abdominal imaging and with a craniocaudal length ≥ 13 cm

• Participants with splenomegaly (as defined above) of unknown origin

Exclusion criteria:

• Participants with obvious diagnostics based on clinical exam, patient's interview and the previous initial routine biological tests :

  • Diagnosis of portal hypertension
  • Diagnosis of hemolytic anemia
  • Diagnosis of hematological malignancy
  • Known diagnosis of Gaucher Disease

The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.

Participants of 15 years old or more presenting with unexplained splenomegaly after exclusion of first intention-diagnoses (e.g. portal hypertension, diagnosis or suspicion of haematological malignancy, haemolytic anemia) based on basic physical and biological exams

Qualified researchers may request access to patient level data and related study documents including the clinical study report, study protocol with any amendments, blank case report form, statistical analysis plan, and dataset specifications. Patient level data will be anonymized and study documents will be redacted to protect the privacy of trial participants. Further details on Sanofi's data sharing criteria, eligible studies, and process for requesting access can be found at: https://vivli.org