Diagnosing Gaucher disease: a pivotal role for haematologists

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Gaucher disease is an autosomal recessive lysosomal storage disorder that can present itself at all ages. The main signs and symptoms of Gaucher disease, such as splenomegaly and thrombocytopenia, mimic the signs and symptoms of haematological malignancies. The overlap in characteristics of these diseases is one of the reasons why Gaucher patients are often misdiagnosed or receive an inconclusive diagnosis. For many patients this has resulted into significant diagnostic and treatment delays.

• What are the early signs and symptoms of Gaucher disease?
• How to diagnose Gaucher disease within clinical haematology practice?
• What are the consequences of a diagnostic delay in Gaucher disease?

Based on clinical cases from their daily practice, the experts participating in this web-tv  go over these questions and explain why haematologists play a pivotal role in early diagnosis in Gaucher disease.

Target audience

This web-tv directs at haematologists.


  • Prof. Dr. Claus Niederau, Catholic Clinic Oberhausen, St. Josef Hospital, Academic Teaching Hospital of the University Duisburg-Essen, Oberhausen, Germany
  • Prof. Maria Domenica Cappellini, MD, Fondazione IRCSS “Ca’ Granda”, Ospedale Maggiore Policlinico, University of Milan, Italy
  • Derralynn Hughes, MD, University College Medical School Royal Free London NHS, Foundation Trust, London, United Kingdom


The webcast Diagnosing Gaucher disease: a pivotal role for haematologists  is accredited 1 European CME credit (ECMEC) by the European Accreditation Council for Continuing Medical Education (EACCME). (Accreditation begins on 28th April 2017 and is valid for two years, ref. EACCME-2017-EL-22) .


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