Polycythemia pathophysiology: Difference between revisions
| Line 47: | Line 47: | ||
*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 of polycythemia (amongst other myeloproliferative neoplasms) are blood cells, plasma factors, and the endothelial compartment. | *Other factors contributing to the pathophysiology of polycythemia (amongst other myeloproliferative neoplasms) are blood cells, plasma factors, and the endothelial compartment. | ||
* | *The role of platelets: | ||
-Several studies in people and in mouse models have shown the increase in platelet activation and coagulation by factors such as cell surface proteins namely; P-selectin (CD62P), or tissue factor(CD142), and circulating leuco-platelets aggregates. | |||
-An increase in CD40 ligand, beta-thromboglobulin, platelet factor 4, thromboxane A2, and an increased expression of surface phosphatidylserine has been noted. | |||
*The role of leukocytes: | |||
-Increased expression of CD11, CD14, and leukocyte alkaline phosphatase, which is further amplified in the event of a JAK2V617F mutation. The mutated macrophages also produce pro-inflammatory cytokines leading to further exaggeration of atherosclerosis which is responsible for myocardial infarction, cerebrovascular accidents, etc in these patients. | |||
==Genetics== | ==Genetics== | ||
Revision as of 23:07, 6 December 2020
|
Polycythemia Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Polycythemia pathophysiology On the Web |
|
American Roentgen Ray Society Images of Polycythemia pathophysiology |
|
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.
- The role of platelets:
-Several studies in people and in mouse models have shown the increase in platelet activation and coagulation by factors such as cell surface proteins namely; P-selectin (CD62P), or tissue factor(CD142), and circulating leuco-platelets aggregates. -An increase in CD40 ligand, beta-thromboglobulin, platelet factor 4, thromboxane A2, and an increased expression of surface phosphatidylserine has been noted.
- The role of leukocytes:
-Increased expression of CD11, CD14, and leukocyte alkaline phosphatase, which is further amplified in the event of a JAK2V617F mutation. The mutated macrophages also produce pro-inflammatory cytokines leading to further exaggeration of atherosclerosis which is responsible for myocardial infarction, cerebrovascular accidents, etc in these patients.
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)