Assessing the diagnostic utility of the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system using real-world data

  • Published on 03/29/2024
  •  Reading time: 5 min.

Revel-Vilk Shoshana 1,2,3, Shalev Varda 4, Gill Aidan 5, Paltiel Ora 2,3,6, Manor Orly 3, Tenenbaum Avraham 4, Azani Liat 7, Chodick Gabriel 4,7

1 https://ror.org/03zpnb459 Gaucher Unit Shaare Zedek Medical Center Jerusalem Israel
2 Faculty of Medicine Hebrew University Jerusalem Israel
3 https://ror.org/03qxff017 Braun School of Public Health and Community Medicine Hebrew University Jerusalem Israel
4 https://ror.org/04mhzgx49 Sackler School of Medicine Tel Aviv University Tel Aviv Israel
5 Takeda Pharmaceuticals International AG Zurich Switzerland
6 Department of Hematology Hadassah Medical Organization Jerusalem Israel
7 MaccabiTech Maccabi Healthcare Services Tel Aviv Israel

Abstract

Background Gaucher disease (GD) is a rare autosomal recessive condition associated with clinical features such as splenomegaly, hepatomegaly, anemia, thrombocytopenia, and bone abnormalities. Three clinical forms of GD have been defined based on the absence (type 1, GD1) or presence (types 2 and 3) of neurological signs. Early diagnosis can reduce the likelihood of severe, often irreversible complications. The aim of this study was to validate the ability of factors...

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