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Essential thrombocythaemia

The information provided on www.fcarreras.org is intended to support, not replace, the relationship that exists between patients/visitors to this website and their physician.

Information reviewed by Dr. Rocío Parody Porras, Specialist in Haematology. Member of the Management of REDMO (Bone Marrow Donor Registry) and of the Foundation’s medical team. Barcelona Medical Association (Co. 35205)

Essential thrombocythaemia is a type of blood cell cancer that originates in the bone marrow. See section Leukaemia, bone marrow and blood cells.

Essential thrombocythaemia (ET) is a malignant disease that falls into the group of chronic myeloproliferative neoplasms, along with primary myelofibrosis and polycythaemia vera, among others.

A common characteristic of these diseases is that the bone marrow stem cells, which are responsible for making all blood cells, have a defect that causes them to produce some of the myeloid blood cells in an uncontrolled manner.

In ET, due to a mutation in the blood stem cell, there is a very high number of platelets. The function of platelets is to start the clotting process in response to injury to a blood vessel, in order to prevent or minimise bleeding. When there are too many platelets, they may not function normally and can cause an occlusion of blood vessels, known as thrombosis.

In Spain, essential thrombocythaemia is, together with chronic myeloid leukaemia, the most frequent chronic myeloproliferative syndrome. Its incidence in Spain is around 20 cases per million inhabitants per year. It predominates in middle-aged patients (median age 60 years) although 15% are younger than 40 years. There are some cases in childhood and it is more common in women.

It is not known why essential thrombocythaemia occurs. It is an acquired, non-inherited disorder, i.e. it is not passed on from parents to children. In 2005, it was reported that 60% of ET patients have a mutation of the JAK2 gene, a gene essential for blood cell function. The mutation (scientifically termed JAK2V617F) leads to continuous and uncontrolled platelet production in ET.

In most cases (more than 50%), it is a disease that has no symptoms and is therefore diagnosed by chance in a routine blood test. If there are clinical manifestations, they are usually due to microcirculation disorders (up to 40%) (redness and pain in the fingers and toes, distal ischaemia and gangrene, transient cerebral vascular accidents, syncope, instability, visual disturbances), thrombosis (up to 25%) (especially arterial and much less frequently venous), or haemorrhages (5%). Up to 35% of pregnant women with ET have miscarriages, mostly in the first trimester, and maternal complications are rare.

It is not possible to confirm the diagnosis of essential thrombocythaemia with a blood test alone.  The diagnosis of essential thrombocythaemia is based on meeting all of the following criteria: platelet counts permanently above 450,000; a bone marrow biopsy with a predominance of megakaryocytes (platelet precursors); absence of data suggestive of another of the chronic myeloproliferative syndromes (diagnosis of exclusion); demonstration of a characteristic mutation in the JAK2 gene (and, if negative, studying the presence of two other mutations called CARL and MPL) or absence of causes of reactive thrombocytosis (such as iron deficiency or absence of spleen, among others).

Treatment of essential thrombocythaemia depends on the patient’s risk group which, in turn, is established according to the patient’s age (> 60 years or < 60 years), the presence of JAK2 mutation, cardiovascular factors and thrombotic/haemorrhagic history. Currently, there is considerable controversy over whether asymptomatic patients with essential thrombocythaemia require treatment. Most authors recommend treating only high-risk patients: those over 60 years of age or with a history of thrombosis or bleeding, or with platelet counts above 1,500,000.

The most commonly used drugs to treat these high-risk patients are hydroxyurea (in patients over 60 years of age) and anagrelide or interferon alpha (in younger patients or those who cannot tolerate hydroxyurea).

In all high-risk patients, or with symptoms of microcirculatory disorders, low-dose aspirin (100 mg/day) is indicated.

Although it is not a curable disease, its chronic nature means that it can be managed effectively over long periods of time. Because of its chronic nature, the survival of ET patients is currently no different from that of the healthy population. Nevertheless, the risk of vascular complications must be taken into account. In the long term, progression to myelofibrosis is observed in 10% of cases and to acute leukaemia in 4%.

We advise essential thrombocythaemia patients in Spain to contact MPN, the Spanish association of patients with chronic myeloproliferative neoplasms.

TESTIMONIAL MATERIALS

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BONE MARROW TRANSPLANT

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In Spain there is a large network of associations for haematological cancer patients that, in many cases, can inform you, advise you and even carry out certain procedures. These are the contacts of some of them by Autonomous Communities:

All these organisations are external to the Josep Carreras Foundation.


STATE

  • MPN España (Asociación de Afectados Por Neoplasias Mieloproliferativas Crónicas)
  • CEMMP (Comunidad Española de Pacientes de Mieloma Múltiple) 
  • AEAL (ASOCIACIÓN ESPAÑOLA DE AFECTADOS POR LINFOMA, MIELOMA y LEUCEMIA)
  • AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact with the nearest branch or call 900 100 036 (24h).
  • AELCLES (Agrupación Española contra la Leucemia y Enfermedades de la Sangre)
  • Josep Carreras Leukaemia Foundation
  • FUNDACIÓN SANDRA IBARRA
  • GEPAC (GRUPO ESPAÑOL DE PACIENTES CON CÁNCER)


ANDALUCÍA

  • AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
  • ALUSVI (ASOCIACIÓN LUCHA Y SONRÍE POR LA VIDA). Sevilla
  • APOLEU (ASOCIACIÓN DE APOYO A PACIENTES Y FAMILIARES DE LEUCEMIA). Cádiz


ARAGÓN

  • AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
  • ASPHER (ASOCIACIÓN DE PACIENTES DE ENFERMEDADES HEMATOLÓGICAS RARAS DE ARAGÓN)
  • DONA MÉDULA ARAGÓN


ASTURIAS

  • AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
  • ASTHEHA (ASOCIACIÓN DE TRASPLANTADOS HEMATOPOYÉTICOS Y ENFERMOS HEMATOLÓGICOS DE ASTURIAS)


CANTABRIA

  • AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.


CASTILLA LA MANCHA

  • AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.


CASTILLA LEÓN

  • ABACES (ASOCIACIÓN BERCIANA DE AYUDA CONTRA LAS ENFERMEDADES DE LA SANGRE)
  • AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
  • ALCLES (ASOCIACIÓN LEONESA CON LAS ENFERMEDADES DE LA SANGRE). León.
  • ASCOL (ASOCIACIÓN CONTRA LA LEUCEMIA Y ENFERMEDADES DE LA SANGRE). Salamanca.


CATALUÑA


VALENCIAN COMMUNITY

  • AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
  • ASLEUVAL (ASOCIACIÓN DE PACIENTES DE LEUCEMIA, LINFOMA, MIELOMA Y OTRAS ENFERMEDADES DE LA SANGRE DE VALENCIA)


EXTREMADURA

  • AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
  • AFAL (AYUDA A FAMILIAS AFECTADAS DE LEUCEMIAS, LINFOMAS; MIELOMAS Y APLASIAS)
  • AOEX (ASOCIACIÓN ONCOLÓGICA EXTREMEÑA)


GALICIA

  • AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
  • ASOTRAME (ASOCIACIÓN GALLEGA DE AFECTADOS POR TRASPLANTES MEDULARES)


BALEARIC ISLANDS

  • ADAA (ASSOCIACIÓ D’AJUDA A L’ACOMPANYAMENT DEL MALALT DE LES ILLES BALEARS)
  • AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.


CANARY ISLANDS

  • AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
  • AFOL (ASOCIACIÓN DE FAMILIAS ONCOHEMATOLÓGICAS DE LANZAROTE)
  • FUNDACIÓN ALEJANDRO DA SILVA


LA RIOJA

  • AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.


MADRID


MURCIA

  • AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.


NAVARRA

  • AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.


BASQUE COUNTRY

  • AECC (ASOCIACIÓN ESPAÑOLA CONTRA EL CÁNCER). Present is the different provinces and in many municipalities. Contact the nearest branch.
  • PAUSOZ-PAUSO. Bilbao


AUTONOMOUS CITIES OF CEUTA AND MELILLA

We also invite you to follow us through our main social media (Facebook, Twitter and Instagram) where we often share testimonies of overcoming this disease.

If you live in Spain, you can also contact us by sending an e-mail to imparables@fcarreras.es so that we can help you get in touch with other people who have overcome this disease.

* In accordance with Law 34/2002 on Information Society Services and Electronic Commerce (LSSICE), the Josep Carreras Leukemia Foundation informs that all medical information available on www.fcarreras.org has been reviewed and accredited by Dr. Enric Carreras Pons, Member No. 9438, Barcelona, ​​Doctor in Medicine and Surgery, Specialist in Internal Medicine, Specialist in Hematology and Hemotherapy and Senior Consultant of the Foundation; and by Dr. Rocío Parody Porras, Member No. 35205, Barcelona, ​​Doctor in Medicine and Surgery, Specialist in Hematology and Hemotherapy and attached to the Medical Directorate of the Registry of Bone Marrow Donors (REDMO) of the Foundation).

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