LONDON, May 24, 2018 /PRNewswire/ --
Maria-Domenica Cappellini, Elena Cassinerio, Irene Motta, William Morello, Jesús Villarrubia; European Oncology & Haematology. 2018;14(1):50-56
Published recently in European Oncology & Haematology Review, the peer-reviewed journal from touchONCOLOGY, Maria-Domenica Cappellini et al, discuss the role of the haematologist in finding and treating Gaucher disease type 1.Gaucher disease (GD) type 1 is the most common lysosomal storage disease and the most common genetic disorder among Ashkenazi Jews. The majority of patients with GD present with unexplained splenomegaly and/or thrombocytopenia, and the disorder often affects children; consequently, haematologists and paediatricians are ideally placed to diagnose this condition. Prompt management of GD type 1 using enzyme-replacement therapy or substrate reduction therapy can reduce the risk of developing long-term GD complications and reverse many of the initial signs/symptoms, thereby improving both quality and duration of life. Treatment is most effective when initiated early; consequently, a prompt diagnosis is essential. Despite this, the average time to diagnosis following the onset of clinical symptoms is 4 years. Reasons for the delay include the heterogeneous nature of the disease, together with a lack of awareness of rare haematological disorders and the benefits of early treatment. Indeed, studies show that only 20% of haematologists consider GD type 1 in their differential diagnosis for patients presenting with splenomegaly and/or thrombocytopenia. To help raise awareness of GD, reduce the diagnostic delay and prevent unnecessary tissue biopsies, simple diagnostic algorithms and screening tools have been developed and validated, both in adults and in children.
The full peer-reviewed, open-access article is available here:
Disclosure: Maria-Domenica Cappellini has received honoraria for advisory boards from Novartis Pharmaceuticals, Sanofi Genzyme and Celgene. Jesús Villarubia has received research funding from Sanofi Genzyme and Shire Pharmaceuticals. Elena Cassinerio, Irene Motta and William Morello have nothing to declare in relation to this article. The publication of this article was supported by Sanofi Genzyme.
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