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
Study Type
OBSERVATIONAL
Enrollment
506
Investigational site France
France, France
Percentage of patients diagnosed with Gaucher disease in the included population of patients with unexplained splenomegaly
The diagnosis of Gaucher Disease is based on a value of beta-glucosidase enzyme activity
Time frame: between 1 and 12 months
Percentage of patients with other than Gaucher disease-etiologies in the included population
These will be any etiology among all the diseases that can be considered in the differential diagnosis of unexplained splenomegaly, e.g.: infection, haematological, congestive, inflammatory, neoplastic, infiltrative, benign tumors, immune, iron deficiencies and other miscellaneous rare causes
Time frame: between 1 and 12 months
Number of participants by type of exams and tests conducted for diagnosis purpose
Relevant exams and tests performed, in each site, for the participant diagnosis other than Gaucher disease will be reported , this may include dried blood spot, medullary biopsy, imaging exploration
Time frame: between 1 and 12 months
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