GD is a multisystemic derangement of cellular metabolism, affecting many organs and systems. As a result, several medical specialists are involved in the management of affected patients.

There is a diversity from country to country, and even in the same geographical area, regarding which specialty mainly deals with patients suffering from GD.

Although hematology is by far the largest diagnosing specialty for GD (75%), in most cases the appropriate diagnosis is established incidentally, following a bone marrow examination. This is done as part of the investigation process for unexplained splenomegaly, thrombocytopenia, or anaemia.

Other major barries to early diagnosis include:

• Lack of disease awareness
• Overlooking early, mild signs of GD
• A failure to consider GD as a diagnostic differential

Rationale

This SWG-initiated research grant is crucial in helping the GD Task Force to understand what is happening with the management of GD patients in hematology clinics across the EU and beyond

Aim

To investigate how patients with unexplained splenomegaly, thrombocytopenia, anaemia, and hyperferritinaemia are currently being treated and to see if GD was considered in the original differential diagnosis.

Methodology

Data collection will be a five-year retrospective review of laboratory databases and medical records of patients with unexplained splenomegaly, thrombocytopenia, anaemia, and hyperferritinaemia in the hematology clinics of our GD Task Force members.

Outcome

We hope this research will encourage hematologists to consider GD in the systematic screening of patients with hematological abnormalities of unknown origin such as splenomegaly, thrombocytopenia, anaemia, and hyperferritinaemia.

Dissemination of the findings

Findings will be used to improve EHA and national GD clinical guidelines and will be disseminated via:

• HemaSphere
• Local MDT/other departmental educational meetings
• The EHA Congress and national congresses
• EHA and national educational initiatives