December 25, 2024 • 18 mins
Porphyria: often referred to as the “vampire disease.” What causes the unusual reactions in the body? What are the symptoms, and how do they affect daily life? In this episode, we'll discuss the history and details surrounding this condition. We’ll cover the various types of porphyria and their specific traits. Join us for an informative look at this fascinating condition. Don’t miss out—tune in to learn more about porphyria!
Check out our website: https://anatomyofillness.com/
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Resources:
American Porphyria Foundation: https://porphyriafoundation.org/
British Porphyria Association: http://porphyria.org.uk/
Porphyria Association Australia: https://www.porphyria-australia.org/
Two of Me: Living with Porphyria (short documentary): https://www.porphyria.com/patient-stories/documentary
References:
https://porphyriafoundation.org/for-patients/about-porphyria/history-of-porphyria/
https://www.scientificamerican.com/article/born-to-the-purple-the-st/
https://www.queensu.ca/gazette/stories/vampire-myths-originated-real-blood-disorder
https://onlinelibrary.wiley.com/doi/10.1111/liv.15960
https://pmc.ncbi.nlm.nih.gov/articles/PMC4953321/
https://www.drugs.com/npp/gentian.html
https://www.webmd.com/digestive-disorders/gallstones
https://my.clevelandclinic.org/health/treatments/23271-barbiturates
https://www.mayoclinic.org/diseases-conditions/porphyria/symptoms-causes/syc-20356066
https://porphyriafoundation.org/for-patients/types-of-porphyria/
https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/porphyria
https://my.clevelandclinic.org/health/diseases/17760-porphyria
https://www.niddk.nih.gov/health-information/liver-disease/porphyria
https://www.mayoclinic.org/diseases-conditions/porphyria/diagnosis-treatment/drc-20356072
https://www.criver.com/eureka/of-vampires-and-villains-and-those-who-are-not
https://www.jstor.org/stable/43895080
https://chicagomed.fandom.com/wiki/Inheritance
https://my.clevelandclinic.org/health/diseases/24112-acute-hepatic-porphyria
*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):
The past few days have unravelled into a relentless nightmare, where even the faintest hint of
(00:04):
food churns your stomach and sends waves of nausea crashing over you.
The intense pain in your stomach worsens by the minute, leaving you unable to leave your
bed.
Just when you think it couldn't get worse, your mother bursts into your room.
Her energy a stark contrast to your heavy malaise.
She pulls back the curtain and throws open the window, declaring that a breath of fresh
(00:25):
air and a splash of sunlight might work wonders for your weary soul.
But as the suns rays pierce the room, they burn your skin, with an intensity that makes
you scream.
Alarmed by the blisters that begin to form, she swiftly closes the curtains, her worry
deepening.
In that moment, the weight of your condition becomes undeniable, and she decides it's
(00:45):
time to take you to the hospital.
Hello, and welcome to Anatomy of Illness.
Today's episode is about Porphyria.
(01:06):
Before we get into the condition, we are going to start with the history.
So why do we know Porphyria exists?
We begin around the year 370 BCE, in ancient Greece, with Hippocrates.
This is due to his potential identification of the condition.
At this time it would have mainly been referred to as a blood and liver disease, without any
further classification of the condition.
(01:26):
Porphyria would not have been a common feature in medicine, but may have been a contributor
to folklore in Europe, due to some of the effects of the condition.
This could be seen in the Spanish Inquisition, that went from 1478 to 1834.
During this, it was reported that 600 so-called vampires were burnt at the stake.
Some of these people were likely to have been innocent people who had the misfortune of
(01:47):
having porphyria, due to some of the symptoms it causes, which will be explained a little
later.
The most substantial reason for meeting this end would have been a recommendation that
would not have helped the cause of the people.
This is the recommendation to drink blood to help treat the condition.
This would have been, however, animal blood, not human blood.
This recommendation would have been during the middle ages.
Interestingly enough, this may have helped how a person felt, as heme, the protein, can
(02:12):
survive digestion.
Speaking of drinking, you can drink water from our new water bottles available at MerchAnatomy.com.
Please don't drink blood, that is how you catch diseases.
The condition porphyria, especially in more isolated populations, may have been more common
due to inbreeding.
Yes, another one of those joys of genetics.
Most people with the condition would have collected and drunk the blood during the night
(02:33):
due to light sensitivity.
But anyway, moving on from things we should leave in the middle ages, no blood drinking
or cousin loving, please.
During this time, we would also have the role of King George III, who lived between 1738
to 1820.
Even though it is unlikely he ever had it, this is due to the publishing of a mother
and son duo who were both psychiatrists.
(02:54):
The mother however retiring and becoming a medical historian.
Part of the evidence used is the colour of his urine being blue for three days leading
up to his attack.
This would have been most likely caused by something called Gentian.
This is a purple flower that would have been used to treat him and attempt to prevent him
from having symptoms of his conditions.
Other notes record him having normal coloured urine for six weeks when tested consecutively.
(03:19):
Moving on with our heads out of the chamber pots, what did King George III most likely
have?
Well, several things most likely contributed to his condition.
He most likely had gallstones, bipolar disorder and later years, dementia.
The people who claimed he had various forms of porphyria wanted to remove the tarnish
that they believed the mad king left by removing all signs of mental illness.
(03:41):
But anyway, moving on.
Not too long after the Spanish Inquisition and the death of King George III, in 1841
a discovery would be made.
This more specifically would be porphyrins.
The name coming from the Greek word porphyrus, meaning reddish purple.
Well it was first thought that this colour in the blood came from iron.
This was found however to be untrue.
(04:02):
This was due to an experiment.
A scientist used sulphuric acid on dried blood to free the iron, then treated it with alcohol.
The leftover residue that did not contain iron was a reddish purple colour.
In 1844, the chemical composition of this would be determined by Gerardus Johannes Mulder.
He would call this hematin and this compound would also take up oxygen, which he demonstrated.
(04:24):
In 1871 Felix Hoppe-Seyler would crystalise hematin and describe how it differs between
species.
He also found that oxygen would form loose compounds with hemoglobin, which he would
call oxyhemoglobin.
He would also go on to rename iron-free hematin hematoporphyrin.
In 1874 Dr J.H. Schultz would encounter the case of a 33-year-old man.
(04:47):
He was a weaver who had a severe skin sensitivity, an enlarged spleen and he had reddish urine
since he was an infant.
Schultz would call this condition pempigus leprosus.
This was most likely the first description of a condition called protoporphyria.
In 1880 McMunn would describe a case of an acute porphyria attack in a patient who also
had darkish red urine.
(05:09):
In 1888 a medication known as sulphonal was introduced and it was claimed to be a hypnotic
drug.
Joseph Stokvis, a doctor, gave this to an elderly patient of his.
After taking this medication she began to have the dark reddish urine that is characteristic
of porphyria.
She would also later become paralysed and die after taking this medication.
(05:30):
He came to the conclusion that the pigment dying the urine was hematoporphyrin.
The next year Stokvis would write and publish an article describing this case, which is
believed to be the first case report of acute hepatic porphyria.
In 1890 George Harley would also write about a case he encountered in a patient using sulfonyl.
This was the case of a 27 year old man who had red urine and an unusual nerve response
(05:52):
to the medication.
8 years later in 1898 T. McCall Anderson would describe the case of two brothers.
They were experiencing rashes that came with a feeling of burning and pruritus, which is
itching to any sun exposed areas of the skin.
So they had extreme sensitivity to the sun.
This is also known as photosensitivity.
This was to the point where they had lost parts of their ears and nose.
(06:14):
This may remind you of several vampire movies or TV shows because this is where these folklore
tales come from and these pop culture stories originate.
These two brothers also had dark urine.
In the same year the urine of these brothers were tested by Alfred F. Harris.
He found that it contained hematoporphyrins.
Now we move on to 1906.
Dr. Max Dobrschansky would encounter the first case of acute porphyria caused by barbiturate
(06:39):
usage.
These are a sedative hypnotic medication.
They have been used to treat depression, migraines and seizures among many other conditions.
Sometimes they are used to treat insomnia.
In 1911 the forms of porphyria would be classified.
This would be done by H. Gunther.
His classifications would even include the rarest form of the condition.
This is congenital erythropoietic porphyria.
(07:00):
CEP for short.
Gunther called it congenital hepatoporphyria.
In 1913 Dr. Friedrich Meyer Betz injected himself with hematoporphyrins to test if they
could cause light sensitivity.
He then went out into the sun.
He became so photosensitive, which is sensitive to sunlight or light in general, that this
effect actually would take months to wear off.
(07:21):
Dr. Betz was so swollen that he was unrecognisable.
He took photos which are still used in dermatology textbooks today.
It actually took quite a while for the swelling to go down.
This is exactly why we don't do self-experimentation on a whim anymore.
Sounds fun in theory, but incredibly painful in practice.
Moving on from one of the many reasons why we have ethics boards now, there are so many
(07:42):
reasons why and it is somewhat horrifying.
In 1915 Hans Fischer would study Mr. Petry, who was a patient of H. Gunther.
Mr. Petry had CEP, which is the rare type of porphyria.
With the insights that this case offered, Fischer was able to provide information on
the chemistry of porphyryns.
He found that there were also uroporphyrins and coproporphyrins.
(08:03):
These were different from the hematoporphyrins, making the hematoprefix unnecessary when describing
them as a compound, as they did not have that in them.
In 1923, E. Garrod would credit H. Gunther with the recognition of hematoporphyria as
an inherited condition, and that it was a metabolic issue.
This was done in his manuscript, Inborn Errors of Metabolism.
The name of groups of conditions affecting the porphyron metabolism would change in 1937.
(08:27):
To Porphyrias Under the suggestion of Dr. Jan G. Waldenstrom,
he tested the urine of 103 patients with acute porphyria symptoms, using the Paul Ehrlich's
aldehyde reagent.
In these he noted the red colour.
He also found that if you gave barbiturates or sulphonal to the family members, they would
also have the same symptoms and red urine.
So what actually causes porphyria?
(08:49):
Well this depends on the type, as some forms of porphyria are inherited and others are
acquired.
The acquired form of porphyria is Porphyria cutanea tarda or PCT for short.
This form occurs when there are too many porphyrins in the body from a different cause.
This can be due to hemochromatosis, which is normally a genetic condition that can cause
an overabundance of iron in the body.
(09:10):
If you would like to learn more, check out episode 22.
It can also be caused by high iron levels outside of hemochromatosis, HIV, chronic hepatitis
C infection, smoking, excessive drinking, and medications containing estrogen.
What are the inherited forms of porphyria?
There are 8 kinds of porphyria.
These can be inherited, although one of these are normally acquired.
(09:30):
The types are normally split into acute and cutaneous.
The acute forms affect the nervous system and the liver.
They may also be known as acute hepatic porphyrias.
These forms present with a sudden onset of symptoms that last around a week and then
disappear.
However, some symptoms may be chronic between attacks.
These forms are acute intermittent porphyria, hereditary coproporphyria, variegate porphyria,
(09:53):
and ALAD porphyria.
The cutaneous forms affect the skin, having blistering, scarring, and swelling on the
sun exposed areas.
These forms include porphyria cutanea tarda, which is normally acquired but in rare cases
can be an inherited condition.
This is known as familial PCT, erythropoietic protoporphyria, and X-linked protoporphyria,
(10:14):
congenital erythropoietic porphyria, and hepatoerythropoietic porphyria.
But what does porphyria actually do?
Well porphyria is a condition that is caused by a flaw in the system that converts porphyrins
into heme.
Heme is why blood is red and it is also a reason why your blood can carry oxygen, among
many other things.
We do love a multipurpose compound.
(10:36):
There are 8 different steps in the process, so many places where it can go wrong, which
is why there are multiple forms of the condition.
How do we test for porphyria?
Firstly, a doctor will ask about your symptoms, medical history, and your family's medical
history.
If there is any evidence of this condition occurring throughout your family, as most
of the time it is hereditary, a doctor will then request tests to measure the amount of
(10:57):
porphyrin and porphyrin precursors in your blood, urine, and potentially even your stools.
If the levels are abnormal, genetic testing can be done to determine what gene mutation
is causing the condition and what specific type of porphyria is causing your symptoms.
We will get right into the symptoms and presentation right after this little break.
If you have been enjoying this episode you can check out our notes on Buy Me a Coffee.
(11:19):
What symptoms might you have if you had porphyria?
This will depend on the specific type of porphyria and what category it comes under.
Before we split the symptoms into categories, we are going to break down the symptoms that
(11:41):
help to develop the whole vampire myth that surrounded porphyria.
These symptoms are sensitivity to sunlight.
Sunlight, in some forms of porphyria causes extreme blistering of the skin.
Fangs, this was caused by repeated episodes of the condition causing the gums to recede,
leading to the appearance of fangs.
Bloody urine, this made people believe that those who were suffering from the condition
(12:01):
were drinking blood because of the abnormal colour of the urine.
It also didn't help that they would occasionally be recommended to drink blood to help with
the symptoms.
Dislike of garlic.
This is because garlic has a high sulfur content, and this can cause symptoms or trigger attacks
of porphyria.
If you remembered from the history, the drug called Sulphonal that was sulfur based, which
triggered several people.
These are the symptoms that help to cause the folklore stories of vampires.
(12:25):
What are common symptoms of acute types of porphyria?
The most common symptoms during an attack include pain in the abdomen, back, legs or
arms.
Issues with the digestive system.
This can include constipation, nausea, and vomiting.
Changes in mental state.
This can include anxiety, confusion, and hallucinations.
Seizures.
Issues with the nerves that control movement.
This can lead to muscle weakness, paralysis, and in some cases, breathing problems.
(12:49):
Issues with the urinary tract.
This can include dark or reddish brown urine, incontinence or urinary retention.
People with variegated porphyria and hereditary coproporphyria can also experience blisters
on their skin when exposed to sunlight.
While symptoms are commonly seen in the cutaneous types of porphyria, the symptoms commonly
seen in these types depend on the specific type.
The symptoms most commonly caused by porphyria cutanea tarda, hepatoerythropoietic porphyria,
(13:13):
and congenital erythropoietic porphyria are blisters, fragile skin that heals slowly and
is wounded easily, infections in blisters and wounds, scarring or skin that changes
colour.
The other forms of cutaneous porphyria, specifically erythropoietic protoporphyria and X-linked
protoporphyria do not cause blisters with sun exposure.
Instead, they can cause pain, burning, stinging, or tingling, redness, and swelling.
(13:37):
What complications should a doctor be aware of when it comes to porphyria?
The complications depend on the type of porphyria, but there are several complications a doctor
should be aware of when it comes to these conditions.
These include, liver problems.
Acute forms of porphyria can increase the risk of developing liver cancer.
Porphyria cutanea tarda can also cause liver damage, increase the risk of developing cirrhosis
(13:58):
and liver cancer.
Protoporphyria can also lead to an increased risk of liver damage and cirrhosis, with 5%
of people with this form developing liver failure.
This is due to them having bile that contains porphyrins which can create gallstones with
these in them.
Anaemia.
People with congenital erythropoietic porphyria or hepatoerythropoietic porphyria can develop
severe anaemia.
(14:18):
These conditions also cause enlargement of the spleen, which in turn also worsens anaemia.
High blood pressure and kidney problems.
Acute porphyria conditions increase the risk of developing high blood pressure, chronic
kidney disease, and kidney failure.
How do we treat porphyria?
The treatment really depends on the form of the condition.
For the acute types of porphyria, it is all about prevention of another attack.
(14:39):
To do this, the treatment is focused on lifestyle.
Some of the things that may be recommended for this are, avoiding smoking, avoiding heavy
drinking, eating a balanced diet without fasting or severe calorie restriction, minimising
sun exposure and using sunscreen when out in the sun, avoiding various medications and
always checking with a doctor before starting any new medication, whether this be over the
counter, prescription, supplements, or even alternative medicines, to ensure they won't
(15:03):
trigger an attack.
With some types of acute porphyria, medications can also be used to help prevent attacks.
An example of this is givosiran.
This medication is used for types of porphyria where the liver is affected.
If you do have an acute porphyria attack, there are treatments that can be used to help
manage this.
These include hemin.
This medication is a form of heme and limits the body's production of porphyrins.
(15:24):
Supportive care can also be used through the use of fluids with glucose which can be given
through a vein or by mouth.
Hospital stays may also be recommended at this time due to severe symptoms that can
be experienced like breathing problems, pain and dehydration.
For those with cutaneous porphyria, the treatment options are different due to the chronic nature
of the condition.
The treatment options include regular blood draws.
(15:44):
This helps to decrease the iron in the body leading to lower levels of porphyrins.
Medications like hydroxychloroquine.
This medication helps to absorb excess porphyrins.
Using dietary vitamin D supplements, this is due to decreased sunlight exposure.
For those with erythropoietic protoporphyria, they may recommend high doses of beta carotene
supplementation as part of treatment.
(16:04):
They may also recommend Afamelanotide.
This is a medication that increases the melanin present in the skin, protecting it from the
sun and allowing for more time without a painful reaction to the sun.
Are there any famous people who have or have had porphyria?
There is Isabel Allende, the Chilean writer's daughter, who was named Paula.
Paula inherited a form of porphyria from her father.
(16:26):
Due to misdiagnosis when receiving care at a hospital, she was given sedatives to treat her.
This led to her slipping into a coma and ending up with brain damage.
This would ultimately lead to her passing away.
Her mother would end up dedicating a book to her, also calling it Paula, which goes
through the past and leads to the present following her through the mourning of her daughter.
If you would like to watch an episode of a TV show that features a character with porphyria,
(16:47):
there is Chicago Med, Season 1 Episode 15, Inheritance.
This episode features a teenager who is brought to the hospital after becoming sick.
She was reluctant to seek help or cooperate with doctors due to various fears she has
around getting medical care.
Eventually, this leads to her being diagnosed with a form of porphyria, and her dad also
being diagnosed with the condition.
If you would like to check out a short documentary, there is Two of Me, Living with Porphyria.
(17:10):
This short documentary follows 7 people who live with acute hepatic porphyrias, also known
as acute porphyrias.
This documentary provides great information about the symptoms, how the condition causes
these symptoms, and also provides a really good understanding of what it is like for
those living with these conditions.
It also shares the reality of how difficult a diagnosis can be for this condition.
If you would like to check out a foundation, for those in the US, there is the American
(17:33):
Porphyria Foundation.
They aim to improve the health of those impacted by porphyria, with research into the treatment
and prevention of the condition.
They also provide education and support to those affected by the condition.
For those in the UK, there is the British Porphyria Association.
They aim to provide a support system for those experiencing the condition.
They also provide funding to research into the condition and raise awareness of porphyria.
(17:54):
For those in Australia, there is the Porphyria Association Australia.
They provide support services and education to those facing porphyria, as well as educating
the medical community about the condition in hopes of helping those experiencing the
condition receive better treatment.
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
(18:17):
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If you would like to join our community, you can join us on Discord or Instagram.
You can also check us out on YouTube for more great content.
Otherwise, stick around for the next episode.
Did you know that your bone marrow makes between 4 to 5 billion, yes billion with a B, red
(18:46):
blood cells an hour?
These red blood cells will normally live for about 120 days each.
The past few days have unravelled into a relentless nightmare, where even the faintest hint of
(00:04):
food churns your stomach and sends waves of nausea crashing over you.
The intense pain in your stomach worsens by the minute, leaving you unable to leave your
bed.
Just when you think it couldn't get worse, your mother bursts into your room.
Her energy a stark contrast to your heavy malaise.
She pulls back the curtain and throws open the window, declaring that a breath of fresh
(00:25):
air and a splash of sunlight might work wonders for your weary soul.
But as the suns rays pierce the room, they burn your skin, with an intensity that makes
you scream.
Alarmed by the blisters that begin to form, she swiftly closes the curtains, her worry
deepening.
In that moment, the weight of your condition becomes undeniable, and she decides it's
(00:45):
time to take you to the hospital.
Hello, and welcome to Anatomy of Illness.
Today's episode is about Porphyria.
(01:06):
Before we get into the condition, we are going to start with the history.
So why do we know Porphyria exists?
We begin around the year 370 BCE, in ancient Greece, with Hippocrates.
This is due to his potential identification of the condition.
At this time it would have mainly been referred to as a blood and liver disease, without any
further classification of the condition.
(01:26):
Porphyria would not have been a common feature in medicine, but may have been a contributor
to folklore in Europe, due to some of the effects of the condition.
This could be seen in the Spanish Inquisition, that went from 1478 to 1834.
During this, it was reported that 600 so-called vampires were burnt at the stake.
Some of these people were likely to have been innocent people who had the misfortune of
(01:47):
having porphyria, due to some of the symptoms it causes, which will be explained a little
later.
The most substantial reason for meeting this end would have been a recommendation that
would not have helped the cause of the people.
This is the recommendation to drink blood to help treat the condition.
This would have been, however, animal blood, not human blood.
This recommendation would have been during the middle ages.
Interestingly enough, this may have helped how a person felt, as heme, the protein, can
(02:12):
survive digestion.
Speaking of drinking, you can drink water from our new water bottles available at MerchAnatomy.com.
Please don't drink blood, that is how you catch diseases.
The condition porphyria, especially in more isolated populations, may have been more common
due to inbreeding.
Yes, another one of those joys of genetics.
Most people with the condition would have collected and drunk the blood during the night
(02:33):
due to light sensitivity.
But anyway, moving on from things we should leave in the middle ages, no blood drinking
or cousin loving, please.
During this time, we would also have the role of King George III, who lived between 1738
to 1820.
Even though it is unlikely he ever had it, this is due to the publishing of a mother
and son duo who were both psychiatrists.
(02:54):
The mother however retiring and becoming a medical historian.
Part of the evidence used is the colour of his urine being blue for three days leading
up to his attack.
This would have been most likely caused by something called Gentian.
This is a purple flower that would have been used to treat him and attempt to prevent him
from having symptoms of his conditions.
Other notes record him having normal coloured urine for six weeks when tested consecutively.
(03:19):
Moving on with our heads out of the chamber pots, what did King George III most likely
have?
Well, several things most likely contributed to his condition.
He most likely had gallstones, bipolar disorder and later years, dementia.
The people who claimed he had various forms of porphyria wanted to remove the tarnish
that they believed the mad king left by removing all signs of mental illness.
(03:41):
But anyway, moving on.
Not too long after the Spanish Inquisition and the death of King George III, in 1841
a discovery would be made.
This more specifically would be porphyrins.
The name coming from the Greek word porphyrus, meaning reddish purple.
Well it was first thought that this colour in the blood came from iron.
This was found however to be untrue.
(04:02):
This was due to an experiment.
A scientist used sulphuric acid on dried blood to free the iron, then treated it with alcohol.
The leftover residue that did not contain iron was a reddish purple colour.
In 1844, the chemical composition of this would be determined by Gerardus Johannes Mulder.
He would call this hematin and this compound would also take up oxygen, which he demonstrated.
(04:24):
In 1871 Felix Hoppe-Seyler would crystalise hematin and describe how it differs between
species.
He also found that oxygen would form loose compounds with hemoglobin, which he would
call oxyhemoglobin.
He would also go on to rename iron-free hematin hematoporphyrin.
In 1874 Dr J.H. Schultz would encounter the case of a 33-year-old man.
(04:47):
He was a weaver who had a severe skin sensitivity, an enlarged spleen and he had reddish urine
since he was an infant.
Schultz would call this condition pempigus leprosus.
This was most likely the first description of a condition called protoporphyria.
In 1880 McMunn would describe a case of an acute porphyria attack in a patient who also
had darkish red urine.
(05:09):
In 1888 a medication known as sulphonal was introduced and it was claimed to be a hypnotic
drug.
Joseph Stokvis, a doctor, gave this to an elderly patient of his.
After taking this medication she began to have the dark reddish urine that is characteristic
of porphyria.
She would also later become paralysed and die after taking this medication.
(05:30):
He came to the conclusion that the pigment dying the urine was hematoporphyrin.
The next year Stokvis would write and publish an article describing this case, which is
believed to be the first case report of acute hepatic porphyria.
In 1890 George Harley would also write about a case he encountered in a patient using sulfonyl.
This was the case of a 27 year old man who had red urine and an unusual nerve response
(05:52):
to the medication.
8 years later in 1898 T. McCall Anderson would describe the case of two brothers.
They were experiencing rashes that came with a feeling of burning and pruritus, which is
itching to any sun exposed areas of the skin.
So they had extreme sensitivity to the sun.
This is also known as photosensitivity.
This was to the point where they had lost parts of their ears and nose.
(06:14):
This may remind you of several vampire movies or TV shows because this is where these folklore
tales come from and these pop culture stories originate.
These two brothers also had dark urine.
In the same year the urine of these brothers were tested by Alfred F. Harris.
He found that it contained hematoporphyrins.
Now we move on to 1906.
Dr. Max Dobrschansky would encounter the first case of acute porphyria caused by barbiturate
(06:39):
usage.
These are a sedative hypnotic medication.
They have been used to treat depression, migraines and seizures among many other conditions.
Sometimes they are used to treat insomnia.
In 1911 the forms of porphyria would be classified.
This would be done by H. Gunther.
His classifications would even include the rarest form of the condition.
This is congenital erythropoietic porphyria.
(07:00):
CEP for short.
Gunther called it congenital hepatoporphyria.
In 1913 Dr. Friedrich Meyer Betz injected himself with hematoporphyrins to test if they
could cause light sensitivity.
He then went out into the sun.
He became so photosensitive, which is sensitive to sunlight or light in general, that this
effect actually would take months to wear off.
(07:21):
Dr. Betz was so swollen that he was unrecognisable.
He took photos which are still used in dermatology textbooks today.
It actually took quite a while for the swelling to go down.
This is exactly why we don't do self-experimentation on a whim anymore.
Sounds fun in theory, but incredibly painful in practice.
Moving on from one of the many reasons why we have ethics boards now, there are so many
(07:42):
reasons why and it is somewhat horrifying.
In 1915 Hans Fischer would study Mr. Petry, who was a patient of H. Gunther.
Mr. Petry had CEP, which is the rare type of porphyria.
With the insights that this case offered, Fischer was able to provide information on
the chemistry of porphyryns.
He found that there were also uroporphyrins and coproporphyrins.
(08:03):
These were different from the hematoporphyrins, making the hematoprefix unnecessary when describing
them as a compound, as they did not have that in them.
In 1923, E. Garrod would credit H. Gunther with the recognition of hematoporphyria as
an inherited condition, and that it was a metabolic issue.
This was done in his manuscript, Inborn Errors of Metabolism.
The name of groups of conditions affecting the porphyron metabolism would change in 1937.
(08:27):
To Porphyrias Under the suggestion of Dr. Jan G. Waldenstrom,
he tested the urine of 103 patients with acute porphyria symptoms, using the Paul Ehrlich's
aldehyde reagent.
In these he noted the red colour.
He also found that if you gave barbiturates or sulphonal to the family members, they would
also have the same symptoms and red urine.
So what actually causes porphyria?
(08:49):
Well this depends on the type, as some forms of porphyria are inherited and others are
acquired.
The acquired form of porphyria is Porphyria cutanea tarda or PCT for short.
This form occurs when there are too many porphyrins in the body from a different cause.
This can be due to hemochromatosis, which is normally a genetic condition that can cause
an overabundance of iron in the body.
(09:10):
If you would like to learn more, check out episode 22.
It can also be caused by high iron levels outside of hemochromatosis, HIV, chronic hepatitis
C infection, smoking, excessive drinking, and medications containing estrogen.
What are the inherited forms of porphyria?
There are 8 kinds of porphyria.
These can be inherited, although one of these are normally acquired.
(09:30):
The types are normally split into acute and cutaneous.
The acute forms affect the nervous system and the liver.
They may also be known as acute hepatic porphyrias.
These forms present with a sudden onset of symptoms that last around a week and then
disappear.
However, some symptoms may be chronic between attacks.
These forms are acute intermittent porphyria, hereditary coproporphyria, variegate porphyria,
(09:53):
and ALAD porphyria.
The cutaneous forms affect the skin, having blistering, scarring, and swelling on the
sun exposed areas.
These forms include porphyria cutanea tarda, which is normally acquired but in rare cases
can be an inherited condition.
This is known as familial PCT, erythropoietic protoporphyria, and X-linked protoporphyria,
(10:14):
congenital erythropoietic porphyria, and hepatoerythropoietic porphyria.
But what does porphyria actually do?
Well porphyria is a condition that is caused by a flaw in the system that converts porphyrins
into heme.
Heme is why blood is red and it is also a reason why your blood can carry oxygen, among
many other things.
We do love a multipurpose compound.
(10:36):
There are 8 different steps in the process, so many places where it can go wrong, which
is why there are multiple forms of the condition.
How do we test for porphyria?
Firstly, a doctor will ask about your symptoms, medical history, and your family's medical
history.
If there is any evidence of this condition occurring throughout your family, as most
of the time it is hereditary, a doctor will then request tests to measure the amount of
(10:57):
porphyrin and porphyrin precursors in your blood, urine, and potentially even your stools.
If the levels are abnormal, genetic testing can be done to determine what gene mutation
is causing the condition and what specific type of porphyria is causing your symptoms.
We will get right into the symptoms and presentation right after this little break.
If you have been enjoying this episode you can check out our notes on Buy Me a Coffee.
(11:19):
What symptoms might you have if you had porphyria?
This will depend on the specific type of porphyria and what category it comes under.
Before we split the symptoms into categories, we are going to break down the symptoms that
(11:41):
help to develop the whole vampire myth that surrounded porphyria.
These symptoms are sensitivity to sunlight.
Sunlight, in some forms of porphyria causes extreme blistering of the skin.
Fangs, this was caused by repeated episodes of the condition causing the gums to recede,
leading to the appearance of fangs.
Bloody urine, this made people believe that those who were suffering from the condition
(12:01):
were drinking blood because of the abnormal colour of the urine.
It also didn't help that they would occasionally be recommended to drink blood to help with
the symptoms.
Dislike of garlic.
This is because garlic has a high sulfur content, and this can cause symptoms or trigger attacks
of porphyria.
If you remembered from the history, the drug called Sulphonal that was sulfur based, which
triggered several people.
These are the symptoms that help to cause the folklore stories of vampires.
(12:25):
What are common symptoms of acute types of porphyria?
The most common symptoms during an attack include pain in the abdomen, back, legs or
arms.
Issues with the digestive system.
This can include constipation, nausea, and vomiting.
Changes in mental state.
This can include anxiety, confusion, and hallucinations.
Seizures.
Issues with the nerves that control movement.
This can lead to muscle weakness, paralysis, and in some cases, breathing problems.
(12:49):
Issues with the urinary tract.
This can include dark or reddish brown urine, incontinence or urinary retention.
People with variegated porphyria and hereditary coproporphyria can also experience blisters
on their skin when exposed to sunlight.
While symptoms are commonly seen in the cutaneous types of porphyria, the symptoms commonly
seen in these types depend on the specific type.
The symptoms most commonly caused by porphyria cutanea tarda, hepatoerythropoietic porphyria,
(13:13):
and congenital erythropoietic porphyria are blisters, fragile skin that heals slowly and
is wounded easily, infections in blisters and wounds, scarring or skin that changes
colour.
The other forms of cutaneous porphyria, specifically erythropoietic protoporphyria and X-linked
protoporphyria do not cause blisters with sun exposure.
Instead, they can cause pain, burning, stinging, or tingling, redness, and swelling.
(13:37):
What complications should a doctor be aware of when it comes to porphyria?
The complications depend on the type of porphyria, but there are several complications a doctor
should be aware of when it comes to these conditions.
These include, liver problems.
Acute forms of porphyria can increase the risk of developing liver cancer.
Porphyria cutanea tarda can also cause liver damage, increase the risk of developing cirrhosis
(13:58):
and liver cancer.
Protoporphyria can also lead to an increased risk of liver damage and cirrhosis, with 5%
of people with this form developing liver failure.
This is due to them having bile that contains porphyrins which can create gallstones with
these in them.
Anaemia.
People with congenital erythropoietic porphyria or hepatoerythropoietic porphyria can develop
severe anaemia.
(14:18):
These conditions also cause enlargement of the spleen, which in turn also worsens anaemia.
High blood pressure and kidney problems.
Acute porphyria conditions increase the risk of developing high blood pressure, chronic
kidney disease, and kidney failure.
How do we treat porphyria?
The treatment really depends on the form of the condition.
For the acute types of porphyria, it is all about prevention of another attack.
(14:39):
To do this, the treatment is focused on lifestyle.
Some of the things that may be recommended for this are, avoiding smoking, avoiding heavy
drinking, eating a balanced diet without fasting or severe calorie restriction, minimising
sun exposure and using sunscreen when out in the sun, avoiding various medications and
always checking with a doctor before starting any new medication, whether this be over the
counter, prescription, supplements, or even alternative medicines, to ensure they won't
(15:03):
trigger an attack.
With some types of acute porphyria, medications can also be used to help prevent attacks.
An example of this is givosiran.
This medication is used for types of porphyria where the liver is affected.
If you do have an acute porphyria attack, there are treatments that can be used to help
manage this.
These include hemin.
This medication is a form of heme and limits the body's production of porphyrins.
(15:24):
Supportive care can also be used through the use of fluids with glucose which can be given
through a vein or by mouth.
Hospital stays may also be recommended at this time due to severe symptoms that can
be experienced like breathing problems, pain and dehydration.
For those with cutaneous porphyria, the treatment options are different due to the chronic nature
of the condition.
The treatment options include regular blood draws.
(15:44):
This helps to decrease the iron in the body leading to lower levels of porphyrins.
Medications like hydroxychloroquine.
This medication helps to absorb excess porphyrins.
Using dietary vitamin D supplements, this is due to decreased sunlight exposure.
For those with erythropoietic protoporphyria, they may recommend high doses of beta carotene
supplementation as part of treatment.
(16:04):
They may also recommend Afamelanotide.
This is a medication that increases the melanin present in the skin, protecting it from the
sun and allowing for more time without a painful reaction to the sun.
Are there any famous people who have or have had porphyria?
There is Isabel Allende, the Chilean writer's daughter, who was named Paula.
Paula inherited a form of porphyria from her father.
(16:26):
Due to misdiagnosis when receiving care at a hospital, she was given sedatives to treat her.
This led to her slipping into a coma and ending up with brain damage.
This would ultimately lead to her passing away.
Her mother would end up dedicating a book to her, also calling it Paula, which goes
through the past and leads to the present following her through the mourning of her daughter.
If you would like to watch an episode of a TV show that features a character with porphyria,
(16:47):
there is Chicago Med, Season 1 Episode 15, Inheritance.
This episode features a teenager who is brought to the hospital after becoming sick.
She was reluctant to seek help or cooperate with doctors due to various fears she has
around getting medical care.
Eventually, this leads to her being diagnosed with a form of porphyria, and her dad also
being diagnosed with the condition.
If you would like to check out a short documentary, there is Two of Me, Living with Porphyria.
(17:10):
This short documentary follows 7 people who live with acute hepatic porphyrias, also known
as acute porphyrias.
This documentary provides great information about the symptoms, how the condition causes
these symptoms, and also provides a really good understanding of what it is like for
those living with these conditions.
It also shares the reality of how difficult a diagnosis can be for this condition.
If you would like to check out a foundation, for those in the US, there is the American
(17:33):
Porphyria Foundation.
They aim to improve the health of those impacted by porphyria, with research into the treatment
and prevention of the condition.
They also provide education and support to those affected by the condition.
For those in the UK, there is the British Porphyria Association.
They aim to provide a support system for those experiencing the condition.
They also provide funding to research into the condition and raise awareness of porphyria.
(17:54):
For those in Australia, there is the Porphyria Association Australia.
They provide support services and education to those facing porphyria, as well as educating
the medical community about the condition in hopes of helping those experiencing the
condition receive better treatment.
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
(18:17):
our latest episodes.
If you would like to join our community, you can join us on Discord or Instagram.
You can also check us out on YouTube for more great content.
Otherwise, stick around for the next episode.
Did you know that your bone marrow makes between 4 to 5 billion, yes billion with a B, red
(18:46):
blood cells an hour?
These red blood cells will normally live for about 120 days each.
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