Gaucher disease non-interventional clinical audit study project update, February 2026

A project update prepared by Prof Sam Salek, Prof Argiris Symeonidis, and Dr Colm Bradley

This SWG‑initiated research grant supports an audit assessing how patients with unexplained splenomegaly, thrombocytopenia, anaemia, and hyperferritinaemia are currently investigated and managed, and whether GD is considered in the initial differential diagnosis.

Thanks to the support of the EHA SWG‑initiated research grant, we were able to gather an international consortium of fifteen centres across twelve countries from our EHA GD/Rare Disease Task Force who agreed to participate in this research effort.

These EHA GD/Rare Disease Task Force centres are located in Italy, Spain, Sweden, Croatia, Turkey, England, Scotland, Russia, Israel, Egypt, Australia and Argentina.

Preparation of the Study Protocol is complete, and data collection from patient health records using the following inclusion criteria is taking place :

  • Splenomegaly (≥3× normal volume)
  • Thrombocytopenia (50–150 × 10⁹/L)
  • Hyperferritinaemia (300–1000 μg/L)
  • Anaemia (95–140 g/L)
  • Any of the above with bone or neurological manifestations

Challenges

Preliminary impressions suggest that real‑world clinical practice often does not adhere to published guidelines for evaluating patients with these unexplained hematological abnormalities.

The biggest challenge for the different centres has been the collection of detailed clinical information on the patients, since not all the centres had radiology databases for splenomegaly at diagnosis.

Next Steps

Once data collection and analysis are complete, patients in whom GD is suspected will be referred for appropriate follow‑up in hematology clinics according to established standards.

Findings will be disseminated through HemaSphere, local MDTs, departmental meetings, and National/European/International Congresses.

The outcome of this audit will impact EHA and National guidelines.

The overall aim is to encourage systematic consideration of GD in patients presenting with unexplained splenomegaly, cytopenias, hyperferritinaemia, and related manifestations.

Future Plans

The aim is to submit an abstract describing this project at the next EHA Congress, to be held in Stockholm in June 2026, and possibly at the 2026 ASH meeting.

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