Polycythemia pathophysiology: Difference between revisions
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===Pathogenesis=== | ===Pathogenesis=== | ||
*The main mechanism by which polycythemia vera develops is a valine to phenylalanine substitution, precisely the JAK2V617F leading to constitutive activation of cytokine receptors. This mutation is present in over 90% of patients with PV, 50% to 60% in patients with primary myelofibrosis, and 50% with patients with essential thrombocythemia. <ref name="pmid32491592">{{cite journal |vauthors=Lu X, Chang R |title= |journal= |volume= |issue= |pages= |date= |pmid=32491592 |doi= |url=}}</ref> | *The main mechanism by which polycythemia vera develops is a valine to phenylalanine substitution, precisely the JAK2V617F leading to constitutive activation of cytokine receptors. This mutation is present in over 90% of patients with PV, 50% to 60% in patients with primary myelofibrosis, and 50% with patients with essential thrombocythemia. <ref name="pmid32491592">{{cite journal |vauthors=Lu X, Chang R |title= |journal= |volume= |issue= |pages= |date= |pmid=32491592 |doi= |url=}}</ref> | ||
*Other factors contributing to the pathophysiology | *Other factors contributing to the pathophysiology of polycythemia (amongst other myeloproliferative neoplasms) are blood cells, plasma factors, and the endothelial compartment. | ||
* | |||
==Genetics== | ==Genetics== | ||
Revision as of 22:25, 6 December 2020
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Polycythemia Microchapters |
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Diagnosis |
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Treatment |
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Polycythemia pathophysiology On the Web |
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American Roentgen Ray Society Images of Polycythemia pathophysiology |
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Risk calculators and risk factors for Polycythemia pathophysiology |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Debduti Mukhopadhyay, M.B.B.S[2]
Overview
The exact pathogenesis of [disease name] is not fully understood.
OR
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
OR
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
OR
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
OR
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
OR
The progression to [disease name] usually involves the [molecular pathway].
OR
The pathophysiology of [disease/malignancy] depends on the histological subtype.
Pathophysiology
Physiology
- Polycythemia is considered a diagnosis when hematocrit is >48% in women and >52% in men, and when hemoglobin is >16.5g/dL in women and >18.5g/dL in men. [1]
- It is important that we know the similarities and differences between polycythemia and erythrocytosis.
- Similarities :
- both are characterized by an increase in red blood cells in the blood. - genetics may play a role in both disorders.
- Differences :
- polycythemia is the increase in red blood cells and hemoglobin above normal. - erythrocytosis is the increase in the mass of red blood cells. - polycythemia may show an increase in white blood cells and platelets as well. - increase in mass is limited to red blood cells only. [2]
Pathogenesis
- The main mechanism by which polycythemia vera develops is a valine to phenylalanine substitution, precisely the JAK2V617F leading to constitutive activation of cytokine receptors. This mutation is present in over 90% of patients with PV, 50% to 60% in patients with primary myelofibrosis, and 50% with patients with essential thrombocythemia. [3]
- Other factors contributing to the pathophysiology of polycythemia (amongst other myeloproliferative neoplasms) are blood cells, plasma factors, and the endothelial compartment.
Genetics
[Disease name] is transmitted in [mode of genetic transmission] pattern.
OR
Genes involved in the pathogenesis of [disease name] include:
- [Gene1]
- [Gene2]
- [Gene3]
OR
The development of [disease name] is the result of multiple genetic mutations such as:
- [Mutation 1]
- [Mutation 2]
- [Mutation 3]
Associated Conditions
Conditions associated with [disease name] include:
- [Condition 1]
- [Condition 2]
- [Condition 3]
Gross Pathology
On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
Microscopic Pathology
On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
References
- ↑ "Polycythemia Symptoms, Causes, Treatment & Diagnosis".
- ↑ "Difference Between Polycythemia and Erythrocytosis | Doctor HQ".
- ↑ Lu X, Chang R. PMID 32491592 Check
|pmid=value (help). Missing or empty|title=(help)