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Primary myelofibrosis 

Primary myelofibrosis
Chapter:
Primary myelofibrosis
Author(s):

Evan M. Braunstein

, and Jerry L. Spivak

DOI:
10.1093/med/9780198746690.003.0519
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date: 05 March 2021

Myelofibrosis is a reactive process common to many malignant and benign disorders. Primary myelofibrosis is a chronic myeloproliferative neoplasm arising in a pluripotent haematopoietic stem cell. It results in abnormalities in red cell, granulocyte, and platelet production in association with marrow fibrosis and extramedullary haematopoiesis. While the precise aetiology is unclear, primary myelofibrosis is known to be a clonal disorder caused by acquired genetic mutations in haematopoietic stem cells. Many patients are asymptomatic at the time of diagnosis, but common presenting manifestations include fatigue, weight loss, night sweats, fever, dyspnoea, and abdominal discomfort due to splenomegaly. The major complications are the consequences of bone marrow failure and extramedullary haematopoiesis. About 20% of patients develop acute myeloid leukaemia as a terminal event. Anaemia is the most consistent abnormality, with the blood film showing evidence of a leucoerythroblastic reaction due to extramedullary haematopoiesis. The presence of marrow fibrosis is essential for diagnosis and usually results in the inability to aspirate marrow from a properly placed needle (‘dry tap’). Treatment is aimed at improving symptoms. Splenomegaly is generally the most distressing complication, and the nonselective JAK2 inhibitor, ruxolitinib, is effective in reducing spleen size and alleviating constitutional symptoms in a majority of patients. Patients with good performance status as well as those with advanced stage disease who have a matched, related donor should be considered for allogeneic bone marrow transplantation. Other therapies found to be effective include low-dose interferon, low-dose thalidomide and prednisone, low-dose busulfan, hydroxycarbamide, splenectomy, and splenic irradiation. Folic acid supplementation is often given to prevent deficiency in the context of increased folate requirements, and hyperuricaemia should be treated with allopurinol.

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