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Polycythemia Vera Disease

Polly-cyclist
Picmonic

Polycythemia is a chronic myeloproliferative disorder where the bone marrow produces too many red blood cells. Patients often have increased WBCs and platelets as well, as this disease is a panmyelosis. Classic symptoms include headache and pruritis, especially after exposure to hot water. This disorder is caused by a mutation in the JAK2 tyrosine kinase, leading to hypersensitivity to erythropoetin (EPO).

As polycythemia vera is not curable, treatment for this disorder involves regular phlebotomy to normalize hematocrit levels, as well as low dose aspirin.

8 KEY FACTS
PATHOPHYSIOLOGY
JAK2 Mutation leading to increased red blood cells
Jack in (2) Tutu mutant with Up-arrow RBC

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
Tire Kite-ace

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.

SYMPTOMS
Erythromelalgia
Earth-red-molten-lava

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." 

Pruritus
Prairie-dog

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.

Often After Hot Shower
Hot Shower

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.

Headache
Head-egg lump

The most frequent symptom of this disease is the complaint of headache.

TREATMENT
Phlebotomy
Flea-bottom

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.

Aspirin
Aspirin

Low dose aspirin is recommended in this disease, as it reduces the risk of thrombotic complications in patients.

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