Essential Thrombocythemia (ET)

By (embryologist) and (fertility counselor).
Last Update: 09/03/2015

Essential thrombocythemia is a Myeloproliferative Neoplasm Syndrome (MPN) condition, characterized by an overproduction of platelets (thrombocytosis) by mature megakaryocytes in the bone marrow (hyperplasia). It's the most common type of MPN. Two to three people in every 100,000 are diagnosed with MPN every year.

Normally, values higher than 600,000 platelets/ml determine the diagnosis. Currently, this limit has been lowered to 400,000 platelets/ml, though.

Although this alteration is more common in middle-high aged people, 15-20% of patients are less than 40 years old. There's a second peak of incidence in patients aged 30, especially women. For this reason, the effect this disease may have on pregnancy is studied.

Symptoms

Its clinical manifestation is based on a higher tendency to develop thrombotic complications and/or bleedings, which can be dangerous to non-treated patients.

The main symptoms of essential thrombocythemia are:

  • Transient and functional microcirculation disturbances (vasomotor disturbance)
  • Trombotic complications
  • Hemorrhagic symptoms

Generally, one of the symptoms is predominant. However, two complications can be produced at the same time or sequentially. Only a small percentage of patients suffer from serious and threatening complications. Most patients are asymptomatic or suffer from alterations without serious consequences.

There's no correlation between haemostatic complications and the thrombocytosis levels. In fact, there are patients with normal platelets levels who present, more or less serious, thrombohemorrhagic complications.

Treatment

The main objective of essential thrombocythemia treatments is to keep the number of platelets inside the normal range, that is to say, under 400,000 platelets/ml. Once treatment begins, not exempt from side effects, it should be maintained for years until its goal is achieved.

The most used treatments are: alkylating agents, hydroxyurea, anagrelide, interferon or antiplatelets like aspirin.

How does it affect pregnancy?

There are cases in which the diagnosis was known before pregnancy. Other patients discover their condition after routine blood tests during pregnancy.

Pregnancy doesn't pose an added danger to essential thrombocythemia because, when the disease affects young women, its development is usually benign. Although pregnancy does not aggravate the disease, there's an adverse risk, that is to say, pregnancy negatively affects essential thrombocythemia.

Thrombocythemia during pregnancy is associated with placental vessels thrombosis and it can produce multiple infarcts and secondary placental insufficiency. This last one carries a risk of miscarriage during the first semester of gestation of 37% to 53%. The risk of miscarriage in the general population is around 15%. In addition, there may be increased risks of fetal growth retardation.

Other consequences associated with this pathology are placental detachment, preeclampsia, and intrauterine fetal death.

It is important to mention that there is no direct correlation between the consequences of the disease during pregnancy and the mother's platelets values.

Although controversial, according to several retrospective studies, the chances of carrying a baby to term are increased in women who have taken aspirin.

The most effective and recommended treatment for pregnant women with thrombocythemia, who require myelosuppression, is interferon alfa because it has no teratogenic risk. However, the experience of its use during pregnancy is reduced.

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Author

 Andrea Rodrigo
Andrea Rodrigo
B.Sc., M.Sc.
Embryologist
Bachelor's Degree in Biotechnology from the Polytechnic University of Valencia. Master's Degree in Biotechnology of Human Assisted Reproduction from the University of Valencia along with the Valencian Infertility Institute (IVI). Postgraduate course in Medical Genetics. More information about Andrea Rodrigo
Adapted into english by:
 Sandra Fernández
Sandra Fernández
B.A., M.A.
Fertility Counselor
Bachelor of Arts in Translation and Interpreting (English, Spanish, Catalan, German) from the University of Valencia (UV) and Heriot-Watt University, Riccarton Campus (Edinburgh, UK). Postgraduate Course in Legal Translation from the University of Valencia. Specialist in Medical Translation, with several years of experience in the field of Assisted Reproduction. More information about Sandra Fernández

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