Polycythemia Vera – Diagnosis and Treatment
Diagnosis
Checking Blood Values
Doctors often begin with blood tests to look for signs of polycythemia vera (PV). These tests check for:
- Higher than normal red blood cell counts
- Elevated hemoglobin and hematocrit levels
- Possible increases in white blood cells (leukocytosis) or platelets (thrombocytosis)
Doctors consider a hematocrit above 45% a strong indicator. Blood tests also help rule out other causes of high red blood cell counts, like secondary erythrocytosis.
Sampling Bone Marrow Fluid and Tissue
Doctors may perform a bone marrow aspiration and a bone marrow biopsy to examine the marrow more closely.
- Aspiration: A thin needle removes liquid marrow, usually from the back of the hipbone.
- Biopsy: A small piece of solid bone and bone marrow tissue is taken during the same visit.
These tests show if the bone marrow makes too many blood cells, which is important for diagnosing PV.
Bone Marrow Findings
The specialist checks for increased numbers of blood cell-producing cells. They also look for signs of myeloproliferative neoplasms or changes that might suggest progression to myelofibrosis.
Doctors use these results to support the diagnosis and look for related problems, such as an enlarged spleen (splenomegaly).
Genetic Mutation Screening
Doctors test for specific gene changes. Most people with polycythemia vera have a mutation in the JAK2 gene.
Finding this mutation in blood or marrow confirms the diagnosis and helps rule out other conditions.
Additional Details for Understanding Diagnosis
Doctors review risk factors, symptoms, and medical history. They measure erythropoietin (EPO) levels to check for causes of erythrocytosis. Doctors use a complete set of diagnostic criteria to confirm PV.
Treatment
Removing Blood From the Body
Doctors often manage polycythemia vera by regularly removing blood, a process called phlebotomy. This method is similar to blood donation.
Phlebotomy lowers the total amount of blood and red blood cells, which reduces the risk of blood clots, stroke, or heart attack. The frequency of phlebotomy depends on blood counts and the individual’s risk of blood clots.
Ways to Ease Itching
Many people with polycythemia vera have itching, especially after bathing. Doctors may suggest antihistamines or ultraviolet light treatment to provide relief.
Sometimes, doctors prescribe selective serotonin reuptake inhibitors (SSRIs), such as paroxetine or fluoxetine, if other treatments do not help.
Medicines to Limit Red Blood Cells
If blood removal alone is not sufficient, doctors may prescribe medications that reduce red blood cell production. These include:
- Cytoreductive agents, which decrease the production of blood cells in the bone marrow.
- Immunomodulators, used to regulate immune response and cell growth.
- Janus kinase (JAK) inhibitors, which block specific signals involved in blood cell production.
These treatments are typically reserved for individuals who are at higher risk of complications or who do not respond well to phlebotomy alone.
Medications for Heart and Vessel Protection
Doctors may recommend medicine to control blood pressure, cholesterol, and diabetes. Managing these conditions lowers the risk of heart attack and other blood clots.
Low-dose aspirin is often given to reduce the risk of blood clots and help with burning pain in the hands or feet.
Caring for Yourself
People living with polycythemia vera can manage symptoms and lower health risks with daily habits. Staying active helps keep blood flowing smoothly.
| Practice | Potential Benefit |
|---|---|
| Exercise | Better blood flow, less fatigue |
| Not smoking | Lower risk of clots, less damage |
| Skin care | Relief from itching/pruritus |
| Avoiding extremes | Protection from injury |
| Checking for wounds | Lower chance of complications |
Activities like walking or gentle stretching may lower the chance of blood clots and reduce problems like high blood pressure or swelling in the legs. Exercise can also help reduce fatigue.
Avoiding smoking is important because tobacco narrows blood vessels. This increases the risk of heart attack, stroke, or other serious conditions related to poor blood flow.
Staying away from high altitudes or places with less oxygen can help prevent drops in oxygen levels in the blood.
Skin care is important for comfort, as many people with polycythemia vera experience itching. Using cool water for bathing and gentle cleansers can soothe the skin.
Applying moisturizer after bathing keeps the skin moist and may reduce itching. Try not to scratch, as this can break the skin and lead to infection or bruising.
Avoid temperature extremes. In cold weather, wearing warm clothing—especially gloves and socks—protects the hands and feet.
In hot weather, drinking enough fluids and staying out of direct sunlight is helpful. Check for wounds, especially on the feet. Poor circulation can slow healing, so report new sores to a health care provider.
Getting Ready for Your Visit
Steps You Can Take Before Your Appointment
Preparing ahead can make your visit more productive. Consider these steps:
Write Down Your Symptoms: List all symptoms, even those that may not seem related, and note when they started.
Gather Important Personal and Medical Details: Make a list of your current health problems and any illnesses that run in your family.
List Your Medications and Supplements: Note all medications, vitamins, and supplements you use, including the dosages.
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Prepare questions for your healthcare provider. Some helpful questions include:
- What might be causing my symptoms?
- What kinds of tests will I need?
- Is this a lifelong condition?
- What treatment options are there?
- How should I manage my other health issues at the same time?
- Should I see a blood specialist (hematologist)?
- Will regular follow-up visits be needed? How often?
Consider Bringing Someone with You: Having a family member or friend can help you remember what is discussed.
How Your Healthcare Provider May Approach the Visit
During your appointment, your provider will ask about your health in detail.
Typical questions might include:
| Topic | Example Questions |
|---|---|
| Pattern of symptoms | Are your symptoms constant or do they come and go? |
| Severity of symptoms | How severe would you rate your symptoms? |
| What helps | Have you noticed anything that makes your symptoms better? |
| What makes it worse | Is there anything that seems to trigger or worsen your symptoms? |
If you answer these questions as accurately as you can, your provider will better understand your situation. This helps them decide on the next steps.
