Myelofibrosis

What is myelofibrosis?

Myelofibrosis is a bone marrow neoplasm that mainly causes bone marrow fibrosis, spleen enlargement and anemia.

This disease causes an alteration in the process of creation and maturation of the corpuscular elements of the blood by the hemapoietic stromal cells of the bone marrow. A patient with myelofibrosis usually has fewer red blood cells (as well as fewer blood cells in general) than a healthy person.

There are two types of myelofibrosis:

  • Primary: caused by a genetic mutation;
  • Secondary: appears after other diseases such as polycythemia vera and essential thrombocythemia.

This disease causes the formation of collagen fibers, which take the place of the tissue that normally makes up the bone marrow, affecting the bone marrow’s ability to generate blood cells.

Myelofibrosis is more frequent among individuals of Caucasian ethnicity and among Ashkenazi Jews. It mainly affects people over 50 years of age.

Prognosis of the disease

The prognosis may be positive for patients who respond well to treatment, but negative in other cases. However, the quality of life will be affected by the presence of the disease, as the patient will have to continue taking medications and undergo regular check-ups.

The specific causes of myelofibrosis are unknown.

Symptoms of myelofibrosis

Symptoms of myelofibrosis appear rather slowly and are almost imperceptible at first. The most common are:

  • Anemia (lack of red blood cells);
  • Leukopenia (lack of white blood cells);
  • Thrombocytopenia (lack of platelets);
  • More swollen spleen than normal;
  • Enlarged liver;
  • Pallor;
  • Appearance of bruising;
  • Easy onset of hemorrhages;
  • Sweating during sleep;
  • Fever;
  • Recurrence of infections due to unexplained causes.
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Diagnosis of myelofibrosis

Diagnosis is made in several stages:

  • Physical examination: the patient reports the symptoms he/she is suffering from and the specialist checks the blood pressure, and the volume of the spleen and liver (by manual palpation), abdomen and lymph nodes;
  • Blood tests;
  • Bone marrow biopsy: if the previous tests have given inconclusive results, the biopsy will confirm or disprove the suspected presence of myeloma; the bone marrow sample is taken from the hip;
  • Genetic tests: they are useful if it is suspected that myelofibrosis may be of genetic origin;
  • Radiology: allows to obtain the latest data necessary to assess the overall status of the disease.

What are the causes of myelofibrosis?

Although the specific causes of myelofibroma are not known, it has been observed that a genetic mutation of the JAK2 gene could cause this pathology; in fact, approximately 50% of people with myelofibroma have a mutation of this gene.

Treatments for myelofibrosis

Treatment of myelofibrosis depends on the stage of the disease:

  • Asymptomatic stage: it is not necessary to start therapy, it is sufficient to undergo regular monitoring;
  • Anemia: anemia can be treated with periodic blood transfusions or by taking androgen hormones, erythropoietin and some types of drugs that stimulate the production of red blood cells;
  • Enlarged spleen: enlarged spleen or splenomegaly can be treated with chemotherapy in less severe cases; however, if the condition of spleen enlargement is severe, the spleen will have to be surgically removed; if this therapy is not practicable, radiation therapy can be considered;
  • Counteracting the action of the JAK2 gene: this type of therapy aims to inhibit the JAK2 gene by ingesting specific drugs, but can only be used for primary myelofibrosis;
  • Bone marrow transplantation: given the invasiveness of this treatment, bone marrow transplantation is performed only in cases in which other treatments have not yielded appreciable results, or cannot be applied to the patient; it involves implanting hematopoietic stem cells from the healthy bone marrow of a compatible donor.
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Which specialist should be contacted?

A hematology specialist will be able to follow the patient through the diagnostic and therapeutic process.