Case Study Discuss the pathpyysiology of Myelofibrosis Essay - 1

Case Study Discuss the pathpyysiology of Myelofibrosis - Essay Example They are therefore heterogeneous diseases which occur within the bone marrow within the hematopoietic stem cell. These cells produce large numbers of cells which mature fairly normally, but later result in rapid destruction of mature blood cells in the circulating bloodstream, primarily in the spleen (Vainchenker, 2005) Myelofibrosis can be associated with malignant diseases, such as leukemias, polycythemia, Hodgkin’s lymphoma and cancer with marrow metastases. It is also associated with reactions to infections (TB, osteomyelitis) and toxins, including X- or Y-Radiation and benzene (Advani, 2008). Recent research results in molecular biology have pointed to some causes of myelofibrosis. An exciting discovery was the identification of the JAK2 V617F mutation in patients with myeloproliferative disorders (Villeval, 2006). It has been demonstrated that this factor is present in many patients with myeloproliferative disorders, including 90% of polycythemia vera (PV) and about 50% of thrombocythemia and idiopathic myelofibrosis patients. This finding of an underlying genetic mutation for many myelofibrotic patients suggests that future therapies may be developed which are more targeted to the basic underlying causes of the disease. The diagnosis of myelofibrosis starts with a peripheral blood film. Because myelofibrosis can result in a large number of circulating blood fragments, it is advisable to support automated hematology analyzers’ CBC results with a manual film. In most cases, myelofibrosis is diagnosed in the earlier stages with splenomegaly, or an enlarged spleen. It can cause an infarction of the spleen, anemia (which is most probably related to spleen function) or increases in LDH which are not linked with other causes. As the spleen is an important part of blood cell production and destruction, a blood cell morphological study can help to rule in or rule out myelofibrosis as the causative factor for