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Clinical manifestations and diagnosis of primary myelofibrosis

Author
Ayalew Tefferi, MD
Section Editor
Stanley L Schrier, MD
Deputy Editor
Rebecca F Connor, MD

INTRODUCTION

Primary myelofibrosis (PMF) is one of the chronic myeloproliferative disorders, which are collectively characterized by clonal proliferation of myeloid cells with variable morphologic maturity and hematopoietic efficiency. PMF was previously called chronic idiopathic myelofibrosis (CIMF) and agnogenic myeloid metaplasia (AMM).

Acute myelofibrosis, a term that has been applied to the clinical picture occasionally seen in patients with acute megakaryoblastic leukemia (FAB M7), is discussed separately. (See "Classification of acute myeloid leukemia", section on 'Acute panmyelosis with myelofibrosis'.)

The clinical manifestations and diagnosis of PMF will be reviewed here. The pathogenetic mechanisms, prognosis, and treatment of this disorder are discussed separately. (See "Pathogenetic mechanisms in primary myelofibrosis" and "Management of primary myelofibrosis" and "Prognosis of primary myelofibrosis".)

EPIDEMIOLOGY

PMF is the least frequent among the chronic myeloproliferative diseases. One study reported an estimated incidence of 1.5 per 100,000 per year in Olmsted County, Minnesota [1]. This incidence figure is higher than those reported from western Australia and northern Israel.

PMF occurs mainly in middle aged and older adults. The median age at presentation is 67 years [1]. Approximately 5 and 17 percent of the patients are diagnosed before the age of 40 and 50 years, respectively [2]. The condition is rare in childhood [3]; a familial occurrence has been reported in several kindreds. Both the familial and the idiopathic forms in childhood may be associated with congenital anomalies and chromosome abnormalities [4,5].

                               

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Literature review current through: Nov 2016. | This topic last updated: Thu Nov 03 00:00:00 GMT+00:00 2016.
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