Primary myelofibrosis


Primary myelofibrosis is a disorder of the bone marrow and is classified as a myeloproliferative disease in which the proliferation of an abnormal type of bone marrow stem cell results in fibrosis or the replacement of the marrow with collagenous connective tissue.

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    Cause & Symptoms
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    Diagnosis & Therapy

Diagnosis

During a full physical examination, the doctor may already be able to determine a pre-existing enlargement of the liver and/or spleen. Skin pallor (caused by anemia) may also be noticeable.

Additional tests are required to make an accurate diagnosis:

Blood test

At the onset of the disorder, there is usually an overproduction of blood platelets (thrombocythemia) and white blood cells (leukocytosis). This is then followed by pancytopenia (a reduction in the number of red and white blood cells, as well as platelets).

Bone marrow puncture

A bone marrow histopathology (morphology) is absolutely necessary to diagnose the disorder.

Genetic analysis

More than half of the patients with primary myelofibrosis have the JAK2 V617F mutation.

Ultrasound scan

Depending on the stage of the disease, an enlargement of the liver and/or spleen can be detected by performing an ultrasound scan on the upper abdomen.

Treatment

Primary myelofibrosis is a chronic disease that needs to be treated by doctors who are specialized in blood diseases (hematology).

The disease can only be cured by receiving a bone marrow transplant from a donor, but due to the high risk, only a small group of patients may be offered this option.

Treatment depends on the symptoms:

  • Blood transfusion
  • Medication
  • In rare cases removal of the spleen