Essential thrombocythemia - Revision history

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2025-04-06T15:18:21Z

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			{{SI}}
			{{Infobox medical condition
			\| name = Essential thrombocythemia
			\| image = [[File:Essential_thrombocythemia_(2).jpg]]
			\| caption = Blood smear showing [[essential thrombocythemia]]
			\| field = [[Hematology]]
			\| synonyms = Essential thrombocytosis, primary thrombocythemia
			\| symptoms = [[Headache]], [[dizziness]], [[chest pain]], [[weakness]], [[fainting]], [[vision changes]], [[numbness]] or [[tingling]] in the hands and feet
			\| complications = [[Thrombosis]], [[bleeding]], [[myelofibrosis]], [[acute myeloid leukemia]]
			\| onset = Usually in [[adulthood]]
			\| duration = [[Chronic (medicine)\|Chronic]]
			\| causes = [[Genetic mutation]]s (e.g., [[JAK2]], [[CALR]], [[MPL]])
			\| risks = [[Age]], [[gender]], [[family history]]
			\| diagnosis = [[Complete blood count]], [[bone marrow biopsy]], [[genetic testing]]
			\| differential = [[Reactive thrombocytosis]], [[polycythemia vera]], [[chronic myeloid leukemia]]
			\| treatment = [[Aspirin]], [[hydroxyurea]], [[anagrelide]], [[interferon alfa]]
			\| prognosis = Generally good with treatment, but risk of complications
			\| frequency = 1-2 per 100,000 people per year
			}}
	== Essential thrombocythemia ==		== Essential thrombocythemia ==

	'''Other Names: '''		'''Other Names: '''
	Primary thrombocythemia; Hemorrhagic thrombocythemia; Essential thrombocytosis; Idiopathic thrombocythemia		Primary thrombocythemia; Hemorrhagic thrombocythemia; Essential thrombocytosis; Idiopathic thrombocythemia

	Essential thrombocythemia (eh-SENT-shul THROM-boh-sy-THEE-mee-uh)An increased number of [[thrombocytes]] (platelets) in the blood, without a known cause. Also called [[essential thrombocytosis]].		Essential thrombocythemia (eh-SENT-shul THROM-boh-sy-THEE-mee-uh)An increased number of [[thrombocytes]] (platelets) in the blood, without a known cause. Also called [[essential thrombocytosis]].
	Essential thrombocythemia belongs to a group of diseases called [[myeloproliferative neoplasms]], which cause the [[bone marrow]] to make too many [[platelets]], [[white blood cells]] and/or [[red blood cells]]. In essential thrombocythemia, the body produces too many platelets		Essential thrombocythemia belongs to a group of diseases called [[myeloproliferative neoplasms]], which cause the [[bone marrow]] to make too many [[platelets]], [[white blood cells]] and/or [[red blood cells]]. In essential thrombocythemia, the body produces too many platelets

	== '''Risk factors''' ==		== '''Risk factors''' ==
	Essential thrombocythemia is more common (80% of cases) in older people. Most cases are diagnosed around 60 years of age.		Essential thrombocythemia is more common (80% of cases) in older people. Most cases are diagnosed around 60 years of age.

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	== '''Cause''' ==		== '''Cause''' ==

	Essential thrombocythemia may be caused by acquiring [[somatic mutations]] (not inherited mutations) in any of several genes, including the [[JAK2]] gene (most frequently) and [[CALR]] gene. In rare cases, the disease is caused by mutations in the [[MPL]], [[THPO]], or [[TET2]] gene.		Essential thrombocythemia may be caused by acquiring [[somatic mutations]] (not inherited mutations) in any of several genes, including the [[JAK2]] gene (most frequently) and [[CALR]] gene. In rare cases, the disease is caused by mutations in the [[MPL]], [[THPO]], or [[TET2]] gene.
	The proteins produced from the JAK2, MPL, and THPO genes work together to regulate a signaling pathway called the JAK/STAT pathway, which transmits messages to the cell nucleus to produce blood cells. It is believed that mutations in these genes lead to an increase in the production of platelets in the bone marrow.		The proteins produced from the JAK2, MPL, and THPO genes work together to regulate a signaling pathway called the JAK/STAT pathway, which transmits messages to the cell nucleus to produce blood cells. It is believed that mutations in these genes lead to an increase in the production of platelets in the bone marrow.
	The reason that mutations in the CALR and TET2 genes cause essential thrombocythemia is not known. The CALR gene provides instructions for creating a protein called [[calreticulin]] that has many functions, such as aiding the functioning of the immune system and wound healing. The TET2 gene produces a [[protein]] that is thought to be important for the production of blood cells.		The reason that mutations in the CALR and TET2 genes cause essential thrombocythemia is not known. The CALR gene provides instructions for creating a protein called [[calreticulin]] that has many functions, such as aiding the functioning of the immune system and wound healing. The TET2 gene produces a [[protein]] that is thought to be important for the production of blood cells.
	In some cases, no genetic mutation is identified in a person with essential thrombocthemia, and the cause is not known.		In some cases, no genetic mutation is identified in a person with essential thrombocthemia, and the cause is not known.

	== '''Inheritance''' ==		== '''Inheritance''' ==

	Most cases of essential thrombocythemia are '''not inherited'''. Instead, the condition arises from gene mutations that occur after conception ([[somatic mutations]]).		Most cases of essential thrombocythemia are '''not inherited'''. Instead, the condition arises from gene mutations that occur after conception ([[somatic mutations]]).
	Less commonly, essential thrombocythemia is inherited in an [[autosomal dominant pattern]]. This means that just one copy of the altered gene in each cell is sufficient to cause the condition. When essential thrombocythemia is inherited, it is called familial essential thrombocythemia.In familial cases, an affected person has a 50% (1 in 2) chance of passing on the condition to each of his or her children.		Less commonly, essential thrombocythemia is inherited in an [[autosomal dominant pattern]]. This means that just one copy of the altered gene in each cell is sufficient to cause the condition. When essential thrombocythemia is inherited, it is called familial essential thrombocythemia.In familial cases, an affected person has a 50% (1 in 2) chance of passing on the condition to each of his or her children.

	== '''Symptoms''' ==		== '''Symptoms''' ==
	The symptoms are varied and may include:		The symptoms are varied and may include:
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	* Seeing spots or lights (Scotomas)		* Seeing spots or lights (Scotomas)
	* Complications in pregnancy that can result in abortion.		* Complications in pregnancy that can result in abortion.

	== '''Diagnosis''' ==		== '''Diagnosis''' ==

	The diagnosis of essential thrombocytemia can be made when people who meet criteria 1-5 and more than three of criteria 6-11:		The diagnosis of essential thrombocytemia can be made when people who meet criteria 1-5 and more than three of criteria 6-11:
	* [[Platelet count]] greater than 600,000/mm3 on two different occasions with a 1-month interval among them		* [[Platelet count]] greater than 600,000/mm3 on two different occasions with a 1-month interval among them
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	* Genetic tests		* Genetic tests
	* [[Uric acid]] level		* [[Uric acid]] level

	== '''Treatment''' ==		== '''Treatment''' ==

	The available treatments are not curative and do not prevent further evolution of the disease to acute myeloid leukemia or myelofibrosis (which only happens in very rare cases). The treatment of essential thrombocythemia is based in reducing the platelet count to avoid complications. The most common medication include [[hydroxyurea]], [[interferon-alpha]], [[Phosphorus 32]], [[anagrelide]]. [[Aspirin]] in low doses can be used to control microvascular symptoms such as redness and pain in the fingers and toes, insufficient blood flow (ischemia), infections in the limbs (gangrene), strokes, syncopes, instability or visual disturbances.		The available treatments are not curative and do not prevent further evolution of the disease to acute myeloid leukemia or myelofibrosis (which only happens in very rare cases). The treatment of essential thrombocythemia is based in reducing the platelet count to avoid complications. The most common medication include [[hydroxyurea]], [[interferon-alpha]], [[Phosphorus 32]], [[anagrelide]]. [[Aspirin]] in low doses can be used to control microvascular symptoms such as redness and pain in the fingers and toes, insufficient blood flow (ischemia), infections in the limbs (gangrene), strokes, syncopes, instability or visual disturbances.
	Recent studies have made the following recommendations:		Recent studies have made the following recommendations:
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	* People who are at low risk should be treated with low doses of [[aspirin]] or are only observed carefully without any type of treatment		* People who are at low risk should be treated with low doses of [[aspirin]] or are only observed carefully without any type of treatment
	[[Hydroxyurea]] is the preferred [[cytoreductive drug]] for most people, because it is less toxic and has a lower risk of producing [[myelofibrosis]]. However, in pregnant women and in those women who wish to become pregnant, interferon is used because hydroxyurea or [[anagrelide]] may cause birth defects.		[[Hydroxyurea]] is the preferred [[cytoreductive drug]] for most people, because it is less toxic and has a lower risk of producing [[myelofibrosis]]. However, in pregnant women and in those women who wish to become pregnant, interferon is used because hydroxyurea or [[anagrelide]] may cause birth defects.

	The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition.		The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition.
	* '''[[Anagrelide]]''' (Brand name: ~~Agrylin®~~) Treatment of patients with essential thrombocythemia to reduce the elevated platelet count and the risk of thrombosis and to ameliorate associated symptoms.		* '''[[Anagrelide]]''' (Brand name: Agrylin¬Æ) Treatment of patients with essential thrombocythemia to reduce the elevated platelet count and the risk of thrombosis and to ameliorate associated symptoms.

	== '''Prognosis''' ==		== '''Prognosis''' ==

	In general, most people can live for long periods of time without complications and have a normal life expectancy. Few people can have more serious problems such as stroke, severe heart or respiratory problems, or bleeding episodes in several parts of the body. Also, in very rare cases, the disease can transform into either primary myelofibrosis or acute myeloid leukemia.		In general, most people can live for long periods of time without complications and have a normal life expectancy. Few people can have more serious problems such as stroke, severe heart or respiratory problems, or bleeding episodes in several parts of the body. Also, in very rare cases, the disease can transform into either primary myelofibrosis or acute myeloid leukemia.

	{{Diseases of megakaryocytes}}		{{Diseases of megakaryocytes}}
	{{Myeloid malignancy}}		{{Myeloid malignancy}}

	{{DEFAULTSORT:Essential Thrombocytosis}}		{{DEFAULTSORT:Essential Thrombocytosis}}
	[[Category:Myeloid neoplasia]]		[[Category:Myeloid neoplasia]]
	[[Category:Coagulopathies]]		[[Category:Coagulopathies]]
	{{rarediseases}}		{{rarediseases}}


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Prab at 20:46, 16 March 2025

2025-03-16T20:46:29Z

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Kondreddy Naveen at 01:41, 9 September 2023

2023-09-09T01:41:47Z

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== Essential thrombocythemia ==

'''Other Names: '''
Primary thrombocythemia; Hemorrhagic thrombocythemia; Essential thrombocytosis; Idiopathic thrombocythemia

Essential thrombocythemia (eh-SENT-shul THROM-boh-sy-THEE-mee-uh)An increased number of [[thrombocytes]] (platelets) in the blood, without a known cause. Also called [[essential thrombocytosis]].
Essential thrombocythemia belongs to a group of diseases called [[myeloproliferative neoplasms]], which cause the [[bone marrow]] to make too many [[platelets]], [[white blood cells]] and/or [[red blood cells]]. In essential thrombocythemia, the body produces too many platelets

== '''Risk factors''' ==
Essential thrombocythemia is more common (80% of cases) in older people. Most cases are diagnosed around 60 years of age.

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== '''Cause''' ==

Essential thrombocythemia may be caused by acquiring [[somatic mutations]] (not inherited mutations) in any of several genes, including the [[JAK2]] gene (most frequently) and [[CALR]] gene. In rare cases, the disease is caused by mutations in the [[MPL]], [[THPO]], or [[TET2]] gene.
The proteins produced from the JAK2, MPL, and THPO genes work together to regulate a signaling pathway called the JAK/STAT pathway, which transmits messages to the cell nucleus to produce blood cells. It is believed that mutations in these genes lead to an increase in the production of platelets in the bone marrow.
The reason that mutations in the CALR and TET2 genes cause essential thrombocythemia is not known. The CALR gene provides instructions for creating a protein called [[calreticulin]] that has many functions, such as aiding the functioning of the immune system and wound healing. The TET2 gene produces a [[protein]] that is thought to be important for the production of blood cells.
In some cases, no genetic mutation is identified in a person with essential thrombocthemia, and the cause is not known.

== '''Inheritance''' ==

Most cases of essential thrombocythemia are '''not inherited'''. Instead, the condition arises from gene mutations that occur after conception ([[somatic mutations]]).
Less commonly, essential thrombocythemia is inherited in an [[autosomal dominant pattern]]. This means that just one copy of the altered gene in each cell is sufficient to cause the condition. When essential thrombocythemia is inherited, it is called familial essential thrombocythemia.In familial cases, an affected person has a 50% (1 in 2) chance of passing on the condition to each of his or her children.

== '''Symptoms''' ==
The symptoms are varied and may include:
[[Blood clots]] that may form in several organs of the body, and may result in:
Symptoms such as headache, dizziness, chest pain, fainting, numbness or tingling sensations of the hands and feet
* Redness, throbbing and burning pain in the hands and feet (erythromelalgia)
* Blood clot occurring in the arteries that supply the brain and may cause ministrokes (transient [[ischemic attack]] (TIA), or strokes, leading to weakness or numbness of the face, arm or leg, trouble speaking, and vision problems
* [[Thrombosis]] in the legs can cause leg pain, swelling, or both
* Clots that can travel to the lungs (pulmonary [[embolism]]), blocking blood flow in the lungs and causing chest pain and difficulty breathing (dyspnea)
* Bleeding episodes (when platelet count is very high (more than 1 million platelets per microliter of blood) that usually don't require transfusions, and may include:
* nosebleeds
* easy bruising
* bleeding from the mouth or gums
* bloody stool or anal bleeding due to bleeding in the intestines (40% of cases)
* Enlarged spleen (splenomegaly)
* Weakness
* Swollen lymph nodes (rare)
* Prolonged bleeding caused by surgical procedures or removal of a tooth
* Ulcers of the fingers or toes
* Microvascular occlusions (in arteries or small caliber veins) in fingers or toes leading to gangrene
* Unpleasant moods (dysphoria)
* Seeing spots or lights (Scotomas)
* Complications in pregnancy that can result in abortion.

== '''Diagnosis''' ==

The diagnosis of essential thrombocytemia can be made when people who meet criteria 1-5 and more than three of criteria 6-11:
* [[Platelet count]] greater than 600,000/mm3 on two different occasions with a 1-month interval among them
* No identifiable cause of secondary [[thrombocytosis]]
* Having normal red blood cell mass
* Bone marrow [[fibrosis]] that is less than one third of the bone marrow
* Absence of the [[Philadelphia chromosome]] (Ph) by a blood exam that examines the chromosomes ([[karyotyping]]) or absence of the "[[bcr-abl fusion product]]"
* [[Splenomegaly]] detected by physical examination or seen in [[ultrasonography]]
* High number of cell in the bone marrow and increased size of the [[megakaryocyte]]
* Abnormal blood producing cells in the bone marrow
* Normal levels of [[CRP]] and [[IL-6]]
* Absence of iron deficiency [[anemia]]
* Clonal [[hematopoiesis]] in which stem cells that produce blood cells help to form blood cells that have a unique mutation because these cells are derived from a single founding cell and are genetic "clones" of the original cells.
Most of the time, the disease is found through blood tests, showing high number of platelets, done for other conditions before symptoms appear. Tests may include:
* [[Bone marrow biopsy]]
* [[Complete blood count]] (CBC)
* Genetic tests
* [[Uric acid]] level

== '''Treatment''' ==

The available treatments are not curative and do not prevent further evolution of the disease to acute myeloid leukemia or myelofibrosis (which only happens in very rare cases). The treatment of essential thrombocythemia is based in reducing the platelet count to avoid complications. The most common medication include [[hydroxyurea]], [[interferon-alpha]], [[Phosphorus 32]], [[anagrelide]]. [[Aspirin]] in low doses can be used to control microvascular symptoms such as redness and pain in the fingers and toes, insufficient blood flow (ischemia), infections in the limbs (gangrene), strokes, syncopes, instability or visual disturbances.
Recent studies have made the following recommendations:
* People who have a high risk of thrombosis or who had thrombosis should use a [[cytoreductor]] in combination with an [[anticoagulant]]
* People with high or intermediate risk, should be treated with a [[cytoreductor]] in combination with [[aspirin]] at low doses
* People who are at low risk should be treated with low doses of [[aspirin]] or are only observed carefully without any type of treatment
[[Hydroxyurea]] is the preferred [[cytoreductive drug]] for most people, because it is less toxic and has a lower risk of producing [[myelofibrosis]]. However, in pregnant women and in those women who wish to become pregnant, interferon is used because hydroxyurea or [[anagrelide]] may cause birth defects.

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition.
* '''[[Anagrelide]]''' (Brand name: Agrylin®) Treatment of patients with essential thrombocythemia to reduce the elevated platelet count and the risk of thrombosis and to ameliorate associated symptoms.

== '''Prognosis''' ==

In general, most people can live for long periods of time without complications and have a normal life expectancy. Few people can have more serious problems such as stroke, severe heart or respiratory problems, or bleeding episodes in several parts of the body. Also, in very rare cases, the disease can transform into either primary myelofibrosis or acute myeloid leukemia.

{{Diseases of megakaryocytes}}
{{Myeloid malignancy}}

{{DEFAULTSORT:Essential Thrombocytosis}}
[[Category:Myeloid neoplasia]]
[[Category:Coagulopathies]]
{{rarediseases}}

{{stub}}