Early Diagnosis of Gaucher Disease and ASMD in Sardinia: The “Ichnos” Project

Gaucher disease (GD) and Acid Sphingomyelinase Deficiency (ASMD) are autosomal recessive lysosomal storage disorders (LSDs) caused by biallelic pathogenic variants in GBA1 and SMPD1, respectively. The resulting enzymatic defects lead to progressive accumulation of undegraded sphingolipids within macrophages and parenchymal cells, producing chronic, multisystemic, and often irreversible organ damage.1,2 Diagnostic delays remain common worldwide and contribute to significant morbidity, impaired quality of life, and increased healthcare burden.3 Clinical overlap between GD and ASMD, particularly splenomegaly, hepatomegaly, cytopenias, bone involvement, and constitutional symptoms, further complicates early recognition.