Kunal is a 23 old young man . He got a message from his close friend , whose relative was admitted in a hospital and needed blood transfusion. Kunal rushed to the hospital to help his friend , but to his surprise the blood bank people refused to take his blood as his hemoglobin was high (Hb= 18.5 gm%). He was shocked to learn that, having low hemoglobin (anemia) was a problem , but so was having higher than normal hemoglobin. He was suggested to rule out Polycythemia Vera. But, upon searching the internet he was confused.
So, what is Polycythemia Vera?
Polycythemia Vera is a slow-growing blood cancer in which your bone marrow makes too many red blood cells. These excess cells thicken your blood, slowing its flow. They also cause complications, such as blood clots, which can lead to a heart attack or stroke. Polycythemia Vera isn't common. It usually develops slowly, and you might have it for years without knowing. Often the condition is found during a blood test done for another reason.
What are the symptoms of Polycythemia Vera?
Many people with Polycythemia Vera don't have signs or symptoms.
Others might have:
- Itchiness, especially following a warm bath or shower
- Headache
- Dizziness
- Bleeding or bruising, usually minor
- Weakness
- Fatigue
- Blurred vision
- Excessive sweating
- Painful swelling of one joint, often the big toe
- Shortness of breath
- Numbness, tingling, burning or weakness in your hands, feet, arms or legs
- A feeling of fullness or bloating in your left upper abdomen due to an enlarged spleen (splenomegaly)
- Fevers
- Unexplained weight loss
What Causes Polycythemia Vera?
Polycythemia vera is one of a group of blood cancers known as myeloproliferative neoplasms. It occurs when a mutation in a gene causes a problem with blood cell production. Normally, your body regulates the number of each of the three types of blood cells you have — red blood cells, white blood cells and platelets. But in polycythemia Vera, your bone marrow makes too many of some blood cells.The mutation that causes polycythemia Vera is thought to affect a protein switch that tells the cells to grow. Specifically, it's a mutation in the protein Janus kinase 2 (JAK2). Most people with polycythemia Vera have this mutation. The cause of the mutation isn't known, but it's generally not inherited.
What are its Complications?
Possible complications of polycythemia Vera include:
Blood clots - Increased blood thickness and decreased blood flow, as well as abnormalities in your platelets, increase your risk of blood clots. Blood clots can cause a stroke, a heart attack or a blockage of an artery in your lungs (pulmonary embolism) or in a vein deep within a muscle (deep vein thrombosis).
Enlarged spleen (splenomegaly) - Your spleen helps your body fight infection and filter unwanted material, such as old or damaged blood cells. The increased number of blood cells caused by polycythemia vera makes your spleen work harder than normal, which causes it to enlarge.
Problems due to high levels of red blood cells - Too many red blood cells can lead to a number of other complications, including open sores on the inside lining of your stomach, upper small intestine or esophagus (peptic ulcers) and inflammation in your joints (gout).
Other blood disorders - In rare cases, polycythemia Vera can lead to other blood diseases, including a progressive disorder in which bone marrow is replaced with scar tissue (myelofibrosis), a condition in which stem cells don't mature or function properly (myelodysplastic syndrome), or cancer of the blood and bone marrow (acute leukemia).
How to Diagnose it?
Your doctor will take a detailed medical history and perform a physical exam.
Blood tests: If you have polycythemia Vera, blood tests might reveal:
An increase in the number of red blood cells and, in some cases, an increase in platelets or white blood cells
Increased percentage of red blood cells that make up total blood volume (hematocrit measurement).
Elevated levels of the iron-rich protein in red blood cells that carries oxygen (hemoglobin).
Very low levels of a hormone that stimulates bone marrow to produce new red blood cells (erythropoietin).
Bone marrow aspiration or biopsy
Tests for the gene mutation that causes polycythemia Vera: analysis of your bone marrow or blood also might show the JAK2 mutation in the cells that's associated with the disease.
What is the Treatment?
1) Phlebotomy - Drawing some blood out of your veins in a procedure called phlebotomy is usually the first treatment option for people with polycythemia vera.
2) Low-dose aspirin.
3) Medication to decrease blood cells - For people with polycythemia Vera who aren't helped by phlebotomy alone, medications, such as hydroxyurea, to suppress your bone marrow's ability to produce blood cells might be used.
4) Interferon alpha may be used to stimulate your immune system to fight the overproduction of red blood cells. It might be used for people who don't respond well to hydroxyurea.
5) Medication to destroy cancer cells. Ruxolitinib is approved by the Food and Drug Administration to treat people with polycythemia vera who don't respond to or can't take hydroxyurea.
6) Therapy to reduce itching - If you have bothersome itching, your doctor may prescribe medication, such as antihistamines, or recommend ultraviolet light treatment to relieve your discomfort. Medications that are normally used to treat depression, called selective serotonin re-uptake inhibitors (SSRIs), helped relieve itching in clinical trials.