Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia

Splenomegaly Gaucher group

Research output: Contribution to journalArticlepeer-review

Abstract

Hematologists are frequently involved in the diagnostic pathway of Gaucher disease type 1 (GD1) patients since they present several hematological signs. However, GD1 is mainly underdiagnosed because of a lack of awareness. In this multicenter study, we combine the use of a diagnostic algorithm with a simple test (β-glucosidase activity on Dried Blood Spot) in order to facilitate the diagnosis in a population presenting to the hematologist with splenomegaly and/or thrombocytopenia associated with other hematological signs. In this high-risk population, the prevalence of GD1 is 3.3%. We propose an equation that predicts the probability of having GD1 according to three parameters that are routinely evaluated: platelet count, ferritin, and transferrin saturation.

Original languageEnglish
Article number2594
JournalScientific Reports
Volume11
Issue number1
DOIs
Publication statusPublished - Dec 2021

ASJC Scopus subject areas

  • General

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