This disorder stems from a mutation in the JAK2 (Janus Kinase) most commonly on chromosome 9 which is a non-receptor tyrosine kinase. This mutation makes cells hypersensitive to EPO (erythropoietin), causing panmyelosis via neoplastic proliferation of erythroid, megakaryocytic and granulocytic cells.
Tyrosine kinase function as an "on" or "off" switch in many cellular functions, and in this disease these they are responsible for regulating red blood cell production signaling cascades.
Due to increased blood viscosity in this disorder, the blood vessels of the hands and lower extremities become blocked. This leads to the hands becoming inflamed and hyperemic, and patients often describe swelling with a "burning pain."
A classic symptom in patients is itching, particularly after a hot shower or bath. This is hypothesized to be because of abnormal histamine release or prostaglandin production.
In this disorder, pruritus results from increased histamine levels released from mast cells and basophils. This histamine release is triggered by warm showers or baths.
The most frequent symptom of this disease is the complaint of headache.
This condition cannot be cured, and phlebotomy, or bloodletting, is a common form of treatment. Blood is removed from the body to normalize the hematocrit to 42-45. This reduces the risk of blood clots and improves cognitive impairment.
Low dose aspirin is recommended in this disease, as it reduces the risk of thrombotic complications in patients.
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