Ilanca Fraser

PLOS ONE, Aug 2023 Background Gaucher disease is a rare autosomal recessive glycosphingolipid storage disease that ultimately leads to reduced life expectancy. Management of Gaucher disease is challenging due to its wide genotypic and phenotypic variability and changing clinical manifestations due to effective treatment. Deliberation between experts is essential to discuss daily clinical practice and identify controversies regarding the management of Gaucher disease.

Discussion The management goals of GD have not changed significantly over the past two decades. In general, the management goals presented in this paper are in line with existing literature on the subject, specifically the therapeutic goals as proposed by the European Working Group on Gaucher Disease and others [16, 20]. Some statements included in existing literature required amendment before consensus was reached.