alexa Polycythemia Rubra Vera In Patient With Gaucher Disease | 64912
ISSN: 2155-9864

Journal of Blood Disorders & Transfusion
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7th World Hematologists Congress

Zlate Stojanoski
University Clinic of Hematology, Macedonia
Posters & Accepted Abstracts: J Blood Disord Transfus
DOI: 10.4172/2155-9864-C1-023
Abstract
Introduction: Gaucher disease (GD) is the most common genetic lysosomal storage disorder. It is an autosomal recessive disorder defined by the presence of two mutant alleles for the acid-β-glucosidase gene, located on region q21 of chromosome one. GD is caused by deficient activity of the enzyme acid-β-glucosidase and is specifically a disease in which macrophages become engorged, causing the liver and spleen to become enlarged and this results in dysfunction of these organs. GD symptoms are multi-systemic and can lead to death. Compared to the general population, GD patients have an increased risk of cancer in general (relative risk of 1.70) and multiple myeloma and hematological malignancies in particular (estimated risk between 25.0 and 51.1). Several factors have been hypothesized to play a role in the pathophysiology, splenectomy, immune dysregulation, altered iron metabolism, chronic inflammation and chronic B-cell stimulation, abnormalities of T cell function and aberrant polarization of macrophages to the alternatively activated phenotype. The Janus kinase 2 (JAK2) V617F mutation is known to provide a growth and survival advantage to the affected clones of hematopoietic cells. It may result in clinical phenotypes of polycythemia vera, essential thrombocythemia and primary myelofibrosis. Case Report: Male patient (S.L) initially presented (1991) at the age of 33 years with mild anemia, thrombocytopenia and splenomegaly. Gaucher disease type 1 (GD1) was diagnosed based on the findings of Gaucher cells in the bone marrow. Clinically, he has remained well over a period of 19 years. From year 2010, he received Cerezyme replacement therapy. Five years later, he presented elevation of Hb, RBC and Hct. The possibility of JAK2 mutation was considered as the cause of raising the level of blood count. PCR-based assay with allele-specific primers confirmed the presence of the V617F mutation. The diagnosis of polycythemia rubra vera was established. Conclusion: Testing for JAK2 V617F and other mutations associated with MPN may be useful for investigation of unexpected changes in patients with GD to confirm the cause when there are suggestive clinical features.
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