Disease name

골수양화생골수섬유증
 Myelofibrosis with myeloid metaplasia

Prevalence

1-9 / 100 000

Age of onset

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ICD 10 code

D47.1

MIM number

254450

Synonym

Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
myelosclerosis with myeloid metaplasia

Summary

Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension. Recent evidences strongly suggest that an acquired mutation of the tyrosine kinase JAK2 contributes to the pathogenesis of the disease.