Early Diagnosis of Gaucher Disease with Focus in Bone Affection (BIG Project) Argentinian

OLIVERI B,; GONZALEZ D; ROZENFELD P; LIS CAMILO; RIEMERSMA O; KOT M

Congreso; ANNUAL MEETING AMERICAN SOCIETY FOR BONE AND MINERAL RESEARCH; 2018

Gaucher disease (GD), is caused by a genetic defciency of the lysosomal enzyme B-glucocerebrosidase (BGLU) that leads to storage of glucocerebroside in the liver, spleen and bone marrow. Early diagnosis and enzyme replacement therapy reverse splenomegaly and cytopenias and prevent irreversible bone lesions. Until now the available algorithms for the diagnosis are based on the finding of splenomegaly and cytopenia and employed mainly by hemathologists. Since bone symptoms have also been recognized in 15-30 % of patients as first manifestation of GD, we present a new strategie adress to get early diagnosis