Gaucher disease is an autosomal recessive disorder caused by dysfunction of the enzyme glucocerebrosidase. The enzyme deficiency is mainly due to mutations in the GBA1 gene, and it is responsible for the accumulation of glucosylceramide within the lysosomes of monocyte macrophage-derived cells; causing the associated symptomatology. The primary aim of the study was the prevalence of unrecognized GD1 in a selected adult population with a confirmed diagnosis of SMM or MM. The secondary endpoint was to assess if, in patients with a final diagnosis of GD1, distinctive features could be identified to draw a diagnostic algorithm for early identification of genetic disease. In conclusion, we found that the prevalence of GD1 in SMM/MM patients is so much higher than that of the general population as a similar study also found in MGUS. Therefore, we and others have demonstrated that GD1 should be considered a disease associated with plasma cell dyscrasias. Any signs of GD1, such as thrombocytopenia, splenomegaly, and high ferritin level, should be searched in MGUS/SMM/MM and, if present, a DBS screening should be included in the diagnostic work‐up with the aim to recognize GD1 and, eventually, to avoid therapy delay.
Prevalence of type I Gaucher disease in patients with smoldering or multiple myeloma: Results from the prospective, observational CHAGAL study
Zizzo, C.Methodology
;Duro, G.Methodology
;
2025
Abstract
Gaucher disease is an autosomal recessive disorder caused by dysfunction of the enzyme glucocerebrosidase. The enzyme deficiency is mainly due to mutations in the GBA1 gene, and it is responsible for the accumulation of glucosylceramide within the lysosomes of monocyte macrophage-derived cells; causing the associated symptomatology. The primary aim of the study was the prevalence of unrecognized GD1 in a selected adult population with a confirmed diagnosis of SMM or MM. The secondary endpoint was to assess if, in patients with a final diagnosis of GD1, distinctive features could be identified to draw a diagnostic algorithm for early identification of genetic disease. In conclusion, we found that the prevalence of GD1 in SMM/MM patients is so much higher than that of the general population as a similar study also found in MGUS. Therefore, we and others have demonstrated that GD1 should be considered a disease associated with plasma cell dyscrasias. Any signs of GD1, such as thrombocytopenia, splenomegaly, and high ferritin level, should be searched in MGUS/SMM/MM and, if present, a DBS screening should be included in the diagnostic work‐up with the aim to recognize GD1 and, eventually, to avoid therapy delay.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
