Elevated platelet levels, in addition to blood clot formation, can also cause excessive bleeding. With appropriate therapy, people with essential thrombocythemia can live quality lives.
Essential thrombocythemia is a rare genetic disorder that affects platelets, the blood cells that control bleeding. People with essential thrombocythemia develop too many blood clots, which increases the risk of heart attack or stroke.
Healthcare professionals treat this condition by lowering platelet levels, which reduces the risk of serious complications.
Essential thrombocythemia, or primary thrombocythemia, is a rare blood disorder that occurs when abnormal stem cells in the bone marrow produce too many platelets, whose job is to slow or stop bleeding by forming blood clots.
It is a type of myeloproliferative neoplasia, a form of blood cancer that occurs when the body produces too many blood cells.
It is usually an acquired genetic condition, meaning it occurs when certain genes undergo a mutation or change – JAK2, CALR and MPL:
• JAK2 – is short for Janus kinase 2. The JAK2 gene tells cells how to make the JAK2 protein. This protein helps control how stem cells make blood cells.
• Find CALR – provides instructions for creating the protein calreticulin, which helps control gene activity, how cells grow and divide, and when they die.
• MPL – is an abbreviation for myeloproliferative leukemia virus. The MPL gene is an oncogene.
When these genes mutate, they trigger a chain reaction that accelerates the production of stem cells, creating more platelets than the body can use.
This condition is signaled by an abnormally high platelet count. It is not curable, but treatment can reduce the risk of developing serious complications.
Essential thrombocythemia affects platelets, very small, sticky blood cells that are the first to respond when a blood vessel is damaged by injury or disease. Because platelets are sticky, they quickly form clumps that literally plug the holes in the damaged vessels.
The bone marrow produces platelets along with red and white blood cells. Under normal circumstances, the bone marrow functions like a factory manager, carefully monitoring supply and demand to ensure there are enough platelets to slow or stop bleeding.
How blood clots form
However, in essential thrombocythemia, the bone marrow produces more platelets than the body needs. The abnormal platelets are also larger than normal and have an unusual shape.
Like excess stock taking up space in already full warehouses, abnormal platelets create blood clots that accumulate in blood vessels and block its flow.
Essential thrombocythemia can cause blood clots anywhere in the body, especially in the brain, hands, and feet.
Women who are pregnant or planning a pregnancy have an additional risk of developing blood clots during pregnancy.
This condition can also cause unusual or excessive bleeding. In this case, the bleeding occurs because the dramatic increase in blood clotting consumes the platelets in circulation, leaving few platelets to slow or stop the bleeding.
Patients with essential thrombocythemia may have an increased risk of heart attack or stroke, and some may even develop leukemia.
People at risk for essential thrombocythemia
Essential thrombocythemia is twice as common in women as in men and most often occurs between the ages of 60 and 80.
About 20 percent of cases appear earlier, in people 40 years of age and younger. Children are rarely affected by this condition.
Symptoms of essential thrombocythemia
Symptoms vary from person to person, and in some cases the condition may be asymptomatic.
As platelet levels increase, symptoms of blood clots may develop. Clots can form anywhere in the body, but they usually appear in the brain, hands, or feet.
Symptoms of blood clots:
• Chronic or prolonged headache
• Dizziness
• Burning or throbbing sensation in the palms and soles
• Numb or red hands and feet
• Changes in speech
• Migraine
• Epileptic seizure
• Pain or discomfort in the upper body, including the arms, back, neck, jaw, or abdomen
• Mixed
Shortness of breath (dyspnea)
• Chest pain
• Weakness
• Enlargement of the spleen
• Nosebleeds (epistaxis)
• Bleeding gums
• Blood in the stool
• Blood in the urine (hematuria)
• Easy bruising
• Heavy menstruation
Diagnosing essential thrombocythemia
Doctors diagnose this condition through a physical examination and a series of tests:
• Complete blood count – measures all blood cell levels, including platelets
• Peripheral blood smear – Abnormal platelets are larger or have an unusual shape. Doctors look at them under a microscope
• Bone marrow tests
• Genetic testing – blood test to look for changes in genes that affect platelet production
Treatment of essential thrombocythemia
Essential thrombocythemia is treated with medications that prevent blood clots and/or lower platelet levels, as well as with thrombocytopheresis, procedure that removes some of the platelets from the bloodstream.
According to Cleveland ClinicWith proper treatment, it is possible to live normally with essential thrombocythemia and prevent complications such as stroke or heart attack.
When you need to go to the hospital urgently
People with essential thrombocythemia are at risk for heart attack and stroke, so they should call the emergency room immediately if the following symptoms appear:
Symptoms of a heart attack:
• Chest pain (angina)
• Problems with breathing
• Nausea or feeling of indigestion
• Palpitations
• Feeling anxious or foreboding
• Sweating
• Dizziness, fainting, or loss of consciousness
Symptoms of heart attack in women (may vary):
• Fatigue and insomnia
Shortness of breath (dyspnea)
• Pain in the back, shoulders, neck, arms, or abdomen
• Vomiting
Symptoms of stroke:
• Sudden numbness
• Sudden weakness on one side of the face or body
• Sudden problems with speech
• Sudden difficulty seeing in one or both eyes
• Severe dizziness, loss of balance or coordination
• Severe and sudden headache
/Telegraph/
