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Possible Links Between Gaucher and Other Blood Disorders (2007)

Links with Gaucher Disease and other blood disorders

There is evidence of a possible link between Gaucher Disease and haematological conditions where the immune cells are abnormal  resulting in high levels of a serum protein called immunoglobulin. The conditions where this has been best described in Gaucher Disease are polyclonal gammopathy (PG), Monoclonal gammopathy of unknown significance (MGUS) and Multiple Myeloma. PG and MGUS are benign conditions which are not associated with symptoms and which do not require treatment. Multiple Myeloma, however, is a form of bone marrow cancer which can result in anaemia, kidney disease and bone disease and requires treatment.

Although comparatively rare an increased incidence of multiple Myeloma has been documented in patients with type 1 Gaucher disease.

Our study aims to understand the relationship between Gaucher Disease and the increased levels of immunoglobulin as seen in PG, MGUS and Myeloma. We also will be investigating whether there is increased levels of immunoglobulin in people who are carriers of Gaucher Disease and also whether there is any evidence of Gaucher mutations in patients with MGUS and Myeloma.

Other aspects of the project will examine the relevance of abnormal immune function, and alterations within the bone marrow microenvironment to the development of Myeloma in Gaucher Disease.

Dr Mehta and Dr Hughes are excited to welcome Dr Rob Ayto to work with them in this project. Dr Ayto is a haematology registrar training in North London and will work in the laboratory and clinic for 2-3 years. We are grateful to Myeloma UK for funding this post and hope that our findings will be relevant to not only patients with Gaucher disease but to any patient with MGUS or Myeloma