Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis?

Sabrina Mariani, Giovanna Palumbo, Luisa Cardarelli, Michelina Santopietro, Robin Foà, Fiorina Giona
2018 Acta Haematologica  
35 Gaucher disease (GD) and primary myelofibrosis (PMF) share similar clinical and laboratory 36 features such as cytopenia, hepatosplenomegaly and marrow fibrosis, resulting often in a 37 misdiagnosis. We report here the case of a young woman with with hepatosplenomegaly, leukopenia 38 and thrombocytopenia. Based on bone marrow (BM) findings and on liver biopsy showing 39 extramedullary hematopoiesis, an initial diagnosis of PMF was formulated. The patient refused stem 40 cell transplantation
more » ... ll transplantation from an HLA-identical sibling. Low-dose melphalan was given without any 41 improvement. Two years later, a BM evaluation showed Gaucher cells. 42 Low glucocerebrosidase and high chitotriosidase levels were indicative for GD. Molecular analysis 43 revealed N370S/complex I mutations. Enzyme replacement therapy (ERT) with imiglucerase was 44 started resulting in clinical and hematological improvements. Due to an unexpected and persistent 45 organomegaly, PMF combined with GD were suspected. JAK2 V617F , JAK2 exon 12, MPL, 46 calreticulin (CARL) and exon 9 mutations were negative and BM examination showed no marrow 47 fibrosis. PMF combined with GD were excluded. Twenty years after starting ERT, the peripheral 48 cell count and liver size were normal, whereas a mild splenomegaly persisted. In order to avoid 49 future misdiagnosis, a diagnostic algorithm for patients with hepatosplenomegaly combined with 50 cytopenia is suggested. 51 52
doi:10.1159/000489251 pmid:29945135 fatcat:ewqx5ctawvcdhhqelkbmhxogju