Gaucher disease prevalence in 600 patients affected by monoclonal gammopathy of undetermined significance.
Gaetano GiuffridaUros MarkovicAnnalisa CondorelliAndrea DuminucoValeria CalafioreConcetta ConticelloAlessandra RomanoStephanie GrassoCarla RiccobeneMarco Tindaro Valentino RagusaBenedetta EspositoDaniela NicolosiMarianna CalagnaAntonella NardoUgo ConsoliGiuseppina UccelloValeria Di GiacomoSanto NeriMaria Rocca CingariFilippo RodàVanessa InnaoAgata FiumaraGiovanni DuroCarmela ZizzoFrancesco Di RaimondoPublished in: European journal of haematology (2023)
The clinical heterogeneity of GD and frequent lack of awareness among physicians often lead to diagnostic delays and severe clinical manifestations. The role of MGUS in the presence of at least one clinical sign, such as low platelet count, organomegaly, bone pain, or bleeding tendency, could aid in initiating GD screening with DBS, thus reducing the period between symptom onset and the diagnosis of this rare disease.