A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia

<jats:title>Abstract</jats:title><jats:p>Gaucher disease (<jats:styled-content style="fixed-case">GD</jats:styled-content>) is the most common lysosomal disorder resulting from deficient activity of the β‐glucosidase enzyme that causes accumulation of glucosylceramide in the macrophage–monocyte system. Notably, because of non‐specific symptoms and a lack of awareness, patients with <jats:styled-content style="fixed-case">GD</jats:styled-content> experience long diagnostic delays. The aim of this study was to apply a diagnostic algorithm to identify <jats:styled-content style="fixed-case">GD</jats:styled-content> type 1 among adults subjects referred to Italian haematology outpatient units because of splenomegaly and/or thrombocytopenia and, eventually, to estimate the prevalence of <jats:styled-content style="fixed-case">GD</jats:styled-content> in this selected population. One hundred and ninety‐six subjects (61 females, 135 males; mean age 47.8 ± 18.2 years) have been enrolled in the study and tested for β‐glucosidase enzyme activity on dried blood spot (<jats:styled-content style="fixed-case">DBS</jats:styled-content>). Seven of 196 patients have been diagnosed with <jats:styled-content style="fixed-case">GD</jats:styled-content>, (5 females and 2 males) with mean age 31.8 ± 8.2 years, with a prevalence of 3.6% (with a prevalence of 3.6% (I95% CI 1.4–7.2; 1/28 patients) in this population. These results show that the use of an appropriate diagnostic algorithm and a simple diagnostic method, such as <jats:styled-content style="fixed-case">DBS</jats:styled-content>, are important tools to facilitate the diagnosis of a rare disease even for not disease‐expert physicians.</jats:p>