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August 14, 2025 13 mins

Polycythemia Vera: What is it? What Causes it? What are the symptoms? In this episode, we will discuss the history of Polycythemia Vera, talking about some of the treatment options, and how it is diagnosed. Tune in to learn more!

 

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Resources:

MPN Research Foundation (international): https://mpnresearchfoundation.org/ 

Blood Cancer UK: https://bloodcancer.org.uk/ 

MPN Alliance Australia: https://www.mpnallianceaustralia.org.au/ 

 

References:

https://www.nature.com/articles/s41375-021-01401-3 

https://www.wikidoc.org/index.php/Polycythemia_vera_historical_perspective 

https://www.mayoclinic.org/diseases-conditions/polycythemia-vera/symptoms-causes/syc-20355850 

https://medlineplus.gov/genetics/gene/jak2/#conditions 

https://www.mayoclinic.org/diseases-conditions/polycythemia-vera/diagnosis-treatment/drc-20355855 

https://www.ranker.com/list/celebrities-with-polycythemia-vera/calistylie 

https://bloodcancer.org.uk/understanding-blood-cancer/polycythaemia-vera-pv/ 

https://www.mskcc.org/cancer-care/patient-education/facts-about-blood-and-blood-cells 

 

*This podcast is for entertainment purposes only. If you suspect you have a medical condition, please seek out an opinion of a medical professional.*

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Transcript

Episode Transcript

Available transcripts are automatically generated. Complete accuracy is not guaranteed.
(00:00):
Lately, you have been dealing with a lot of dizziness

(00:02):
and tiredness.
It feels as if you have constant headaches
and as though it is often hard to see
as your vision is rather blurry.
After showering, you notice you feel really itchy.
The itchiness is everywhere
and no matter how hard you scratch it,
it just continues to itch.
You notice a strange taste in your mouth.
You go and look in the mirror

(00:22):
and then you realise your gums are bleeding.
However, you just write this off as not flossing enough.
Your dentist has mentioned this before.
You know you have a checkup with your doctor later today,
so you decide you will bring all of this up later,
even though you think it's all probably nothing.
(upbeat music)
Hello and Welcome to Anatomy Of Illness.

(00:54):
Today's episode is about polycythemia vera.
Before we get into the condition,
we are going to start with the history.
So why do we know polycythemia vera exists?
We begin in 1892.
This is with Luis Henry Váquez.
As he would be the first to describe polycythemia vera,
this being before it had the name.
He described a condition of hemopoietic hyperactivity,

(01:17):
so a condition that caused extra blood cells to be made.
Váquez would also report on the first known patient
with polycythemia syndrome,
which was elevated hemoglobin
without cardiopulmonary disease.
This would lead to him to suggest
that the condition of elevated red blood cells
could be divided into two conditions,
absolute erythrocytosis,
this being due to elevated red blood cell mass,

(01:40):
and relative erythrocytosis,
this being due to a decrease in the plasma volume,
but there being no increase in the red blood cell mass.
This would lead to the condition being named
maladie de Váquez.
These ideas would be reinforced
with the work of William Osler in 1903,
who would report on a few patients with the same symptoms,

(02:00):
claiming that those who had an elevation
in the amount of red blood cells had a distinct syndrome.
In 1904, we would have an expansion of the condition.
This was by Wilhelm Turk.
He would claim that the condition would affect
more than just the red blood cells.
It actually would affect platelets
and the white blood cells too,
so all of the cells originating from hemopoietic stem cells.

(02:24):
All cells originating from this type of stem cell
were elevated.
In the next few years,
we would see the invention of several treatment options.
These include the use of total skeletal radiation therapy
in 1917.
This is just radiation, no bone marrow transplant.
The dosages at this time also would not have been
as exact as nowadays.

(02:45):
Potassium arsenite in 1933,
which contains potassium and a form of arsenic,
which you can guess was toxic.
This treatment is also considered carcinogenic.
In 1950, we had another one of these treatments
known as nitrogen mustard.
Now, this name may sound familiar,
especially if you have done a class in history

(03:05):
discussing World War II.
Well, that is because this was originally created
as an agent of chemical warfare known as mustard gas.
Yeah, literally chemotherapy,
one of them started as mustard gas,
literally a banned agent of warfare.
These three are only a few of the treatment options
that used to be used.
However, these treatments are considered mostly ineffective

(03:28):
or potentially harmful
when it comes to the treatment of polycythemia vera
and just about anything.
Now we move forward to 1951.
This is where we would see the conceptual work
of William Dameshek.
He described what he would call
myeloproliferative neoplasms.
In this, he would include polycythemia vera.
Myeloproliferative neoplasms is a term we use today

(03:52):
to describe chronic blood cancers.
These occur when the bone marrow
produces too many blood cells.
Between the years 1967 and 1997,
the polycythemia vera study group
would be a powerhouse in their contributions
to this condition.
During this time,
they would create a formal diagnostic criteria
for polycythemia vera,
raise awareness of the treatment potential

(04:13):
of therapeutic phlebotomy,
so having blood taken in an attempt to remove
extra blood cells,
they would also raise awareness of the potential
that hydroxyurea had as a treatment.
In 1998, another treatment would be found.
This would be interferon.
Interferon was found to have an anti-proliferative response,
so it would stop the extra blood cells from being made.

(04:36):
In 2005, we would see another advancement.
This is the advancement where several groups
would find the mutation causing polycythemia vera,
and with this, in 2008,
the World Health Organization would create a classification
for myeloproliferative neoplasms.
This, of course, included polycythemia vera.

(04:56):
Leading to another update in 2016,
the World Health Organization would update
the diagnostic criteria for polycythemia vera.
So what actually causes polycythemia vera?
Polycythemia vera is a condition that occurs
when a gene mutation causes there to be an issue
with making blood cells.
We do know the gene that is affected,
but we do not know why the change in the gene occurs.

(05:18):
The gene that is affected is the JAK2 gene.
This makes a protein known as the Janus kinase 2 protein.
This is important for controlling the production
of blood cells from hemopoietic stem cells.
These stem cells can create white blood cells,
red blood cells, and platelets.
Polycythemia vera specifically causes too many
of all three of these to be made.

(05:39):
But what are the risk factors for developing this condition?
Well, although this condition is caused by a change
in the genes, it is not actually passed through families.
No, instead, this is actually a later in life development.
So this is something you can't blame
your parents for getting.
The risk factors that are important
when it comes to polycythemia vera include age.
Although you can develop this condition at any age,

(06:02):
we mostly see polycythemia vera
in adults above the age of 60.
Sex, men are actually more likely to get this condition
than women.
How do we diagnose polycythemia vera?
After an initial physical examination,
along with your medical history,
doctors will request some blood tests.
These blood tests will show several things

(06:22):
in the case of polycythemia vera.
These include more red blood cells than usual.
There can also be an increase
in white blood cells and platelets.
Having an increase in white blood cells and platelets
is normally part of the diagnostic criteria
when it comes to this condition.
Having a higher portion of red blood cells
in the total blood volume.
This is what is called your hematocrit level.

(06:42):
Higher levels of hemoglobin in the red blood cells.
This is the iron-rich protein that carries oxygen.
Another test doctors are likely to order,
especially if your blood results are concerning,
is a bone marrow biopsy or a bone marrow aspiration.
These two tests can be done together or separately.
A bone marrow biopsy takes a sample

(07:02):
of the spongy tissue in the bone marrow.
A bone marrow aspiration takes a sample
of the liquid part of the bone marrow.
Gene testing.
Bone marrow may also be sent for genetic testing
to see if there are any changes in the bone marrow.
Specifically looking for a gene change
that is linked with the disease.
So a change in the JAK2 gene.
We'll get right into the symptoms and presentation

(07:24):
right after this little break.
(upbeat music)
(upbeat music)
This podcast is supported by listeners like you
on "Buy Me a Coffee".
What symptoms might you have if you had polycythemia vera?

(07:45):
Most people with this condition don't notice symptoms.
However, if you do, the symptoms you may have
if you have this condition include headaches,
tiredness, dizziness, and blurred vision.
These are the more common generic symptoms
that people often experience with this condition
and of course, you know, brush off.
However, there are symptoms that can be more indicative
of polycythemia vera.

(08:06):
The symptoms that are more clear or indicative
of polycythemia vera include itchiness.
This actually most often happens after having a warm bath
or a warm shower.
Numbness, tingling, weakness, or even burning
in the hands, arms, feet, or legs.
Painful swelling in one joint.
We often see this actually in the big toe.
Bone pain, a feeling of fullness soon after you eat.

(08:29):
Bloating or pain even in the upper left stomach area.
This is due to the spleen becoming enlarged.
Unusual bleeding.
You may see this present itself through nosebleeds
or your gums bleeding.
You may also experience shortness of breath
or trouble breathing when you lay down.
What complications should a doctor be aware of
when it comes to polycythemia vera?

(08:49):
There are several complications that doctors
should be aware of when it comes to this condition.
These include blood clots.
With polycythemia vera, the extra blood cells
cause the blood to have a thicker consistency.
There can also be a decrease in the flow of blood
due to this and atypical platelets
are some of the extra blood cells
that may be caused by this condition.
These factors increase the risk of developing blood clots.

(09:12):
Blood clots can be quite dangerous
as they can cause strokes or heart attacks.
They can even block arteries in the lungs
or veins deep in the abdomen or the legs.
All of these are serious issues.
Enlarged spleen.
The spleen as an organ has two purposes.
It is used to help in the fighting of infections
and help filter the blood.
With polycythemia vera, this can be problematic

(09:33):
as the condition causes you, of course,
to have extra blood cells.
This causes the spleen to work harder,
leading to the spleen becoming enlarged.
Having high levels of red blood cells
can also cause other problems.
These include peptic ulcers.
Peptic ulcers are open sores
that you can find in the lining of the oesophagus,
the stomach and even the upper part of the small intestine.

(09:54):
Another issue that can come with having high red blood cells
is that it can cause gout.
We discussed this in episode 54,
but essentially gout is swelling of the joints,
often found in the big toe.
So this is where the big toe symptom comes in.
Polycythemia vera in rare cases
can lead to other blood disorders
like cancer of the blood and bone marrow,
specifically acute leukemia.

(10:16):
We discussed this in episode 32.
Yes, polycythemia vera is a form of chronic blood cancer,
but it can cause other blood cancers, but rarely.
How do we treat polycythemia vera?
When it comes to polycythemia vera,
treatment is aimed at reducing symptoms
and reducing the risk of complications
as it is currently not a curable condition.
The current treatment methods include blood withdrawals.

(10:38):
If you remember back in episode 22 with hemochromatosis,
both of these conditions are managed with venesection
or blood withdrawals.
In this, it is much like how you would go
about donating blood.
A needle is inserted into your vein.
This process is known as phlebotomy.
This lowers the amount of blood you have,
so less blood means less excess cells you have.

(10:59):
Depending on your severity,
depends on how often you will have to have this procedure.
We also have medications
that can reduce the amount of red blood cells.
These are used if blood draws don't help enough.
If you experience itching as a symptom of polycythemia vera,
you may be given antihistamines,
or there may actually be a recommendation
to try ultraviolet therapies.
Are there any famous people
who have or have had polycythemia vera?

(11:21):
Yes, there were a few people who have had polycythemia vera.
One of these being Phyllis George.
She is a former Miss America
and was the former Kentucky First Lady.
She was also the first woman
to host a national sports TV show on the NFL Today
over in the United States.
So she was a very successful woman.
Phyllis George, however,

(11:42):
did have polycythemia vera for 30 years
before she passed away from complications of the condition
when she was 70 years old.
If you would like to check out a foundation,
there is the MPN Research Foundation.
They are a global foundation.
This foundation funds research
into myeloproliferative neoplasms,
which are chronic blood cancers.
Polycythemia vera is considered to be one of these.

(12:02):
They also advocate for patients
experiencing these conditions.
For those in the UK, there is Blood Cancer UK.
They support research into different forms of blood cancer,
including polycythemia vera,
along with supporting those
who have been affected by blood cancers.
For those in Australia, there is MPN Alliance Australia.
Their goal is to raise awareness

(12:23):
and to increase the understanding of conditions
like polycythemia vera,
as well as providing support to patients
who are currently experiencing these conditions.
If you want to check out the sources,
social media links, or any other links,
you can head to anatomyofillness.com.
If you enjoyed this episode and would like to hear more,
subscribe to be notified about our latest episodes.
If you would like to join our community,
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Otherwise, stick around for the next episode.

(12:44):
(upbeat music)
(upbeat music continues)
Did you know that red blood cells
normally have a lifespan of 120 days?
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