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Myelofibrosis

Mielofibrosi Vall d'Hebron

Myelofibrosis is included within the group of chronic myeloproliferative disorders. It may appear de novo (primary) or following polycythaemia vera or essential thrombocythaemia.

It is characterised by bone marrow fibrosis, progressive defect in blood cell production and marked presence of constitutional symptoms, as well as an enlarged spleen and liver that attempt to compensate for the production of red blood cells.

Description

 

Symptoms

Approximately one third of patients have no symptoms. Diagnosis is made by studying alterations in control analyses.

The symptoms appear gradually, with marked tiredness, night time sweating, fever, loss of muscle mass, loss of appetite and abdominal pain being the most common. They are not exclusive symptoms of this disease, so if they are present, it is advisable to consult your GP who will refer you to the corresponding haematology department if they suspect a diagnosis of myelofibrosis.

It is a disease that can remain stable for a long time, or present in very symptomatic forms.

 

How is affected?

It is considered a rare disease, with a low incidence of 5-7 cases per million inhabitants per year. It mainly affects people aged 60-70 years.

 

Diagnosis

Diagnosis begins with the study of the aforementioned symptoms, of alterations in the physical examination (such as an increase in spleen size) or of alterations in the analysis such as anaemia, decreased white blood cells and platelets, among others.

A bone marrow biopsy can be performed for diagnosis, which, together with the analysis, will allow the determination of risk factors for the progression of the disease, which will guide treatment.

 

Typical treatment

Treatment is determined by the risk of disease progression, patient characteristics and the presence of symptoms. 

The only curative treatment for the moment is blood stem cell transplant, which can be offered to a small group of patients, as it usually presents in older patients who are not candidates for this type of treatment.

Therefore, the main goal of treatment today is to control symptoms and prevent complications. Drugs such as erythropoietin, danazol and others, including blood transfusions, are used to control symptoms related with anaemia.

To control symptoms or increased spleen size, hydroxyurea and ruxolitinib are mainly used.

Clinical trials exist that seek to improve current treatment. Consult your haematologist to find out which are available.

 

Typical tests

It is usually monitored with analyzes.

 

 

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