Essential thrombocythemia

A rare chronic blood disease that is slow to develop. It is characterised by increased platelet production and is associated with greater risk of thrombosis (clotting) and bleeding. Patients with essential thrombocythemia are usually asymptomatic and it is detected during routine blood tests. There is currently no cure for this condition and treatment is targeted at preventing complications. It is included within the group of chronic myeloproliferative disorders, which are a type of blood cancer that is slow to develop. Its cause is not known, although there are mutations known to be associated with the condition in 80% of cases. It is not hereditary, but some families may have several members affected by it.

Description

It is characterised by increased platelet production and is associated with greater risk of clotting in the arteries and veins, or in some cases with bleeding.

It is a chronic illness that cannot currently be cured, with a normally benign evolution. It can be effectively controlled over long periods and generally has little impact on daily activities and work. Patients with this condition have increased risk compared to the general population of developing other blood diseases, such as acute leukaemia or myelofibrosis.

Useful contacts

MPN voice http://www.mpnvoice.org.uk/

Gemfin: https://www.gemfin.es/informacion-pacientes/

Symptoms

Many patients show no symptoms, either when they are initially diagnosed or as the condition evolves. Different combinations of symptoms may appear, such as tiredness, itching, night time sweating, aching bones and headaches.

The severity of symptoms varies a lot depending on the patient.

How is affected by ythe condition?

It is considered a rare disease, with a low incidence of 1.5-3 cases per 100,000 inhabitants. It mainly affects people aged 60-70 years and to a lesser extent young people. It is more common in women

Diagnosis

It is normally diagnosed through blood tests that show a sustained increase in platelet count.

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 in turn guide treatment.

It is usually associated with genetic mutations that support diagnosis.

Typical treatment

Administering antiplatelets or drugs to reduce the number of platelets is not always indicated.

The aim of treatment is to prevent complications due to clotting and bleeding, as well as controlling the symptoms related to this condition. Depending on the risks and symptoms, the haematologist will therefore determine when to start treatment.

There are special circumstances, such as pregnancy, in which a multidisciplinary approach is required.

Typical tests

It is usually controlled by analysis.

Prevention

The most important thing is to prevent clotting complications associated with this condition by controlling cardiovascular risk factors (high blood pressure, dyslipidaemia, smoking, obesity, sedentary lifestyle) and following the treatment recommended by your haematologist.