Porphyric Twilight
by Kenneth Lyen
Introduction
When I was a medical student, my lecturer talked about porphyria and the origin of vampires. That was the only part of the lecture I could remember. But it sparked my interest. Did porphyria really inspire the legends of vampires? As with many myths and folklores, the identity of vampires has evolved over time.
Origins of the Vampire Legend
Most legends originate in antiquity, and that is probably true of vampires. However, the current mythology of vampires emerged almost exclusively from the orally preserved and transmitted traditions of early 18th-century southeastern Europe. Depictions of vampires in books like The Vampyre (1819), Carmilla (1871), and Bram Stoker’s Dracula (1897) showed them as nocturnal blood-sucking monsters who have no reflection when viewing themselves in the mirror.
Bram Stoker based his character Count Dracula on a real-life person, Romanian Prince Vlad III (1431-1476) who lived in Transylvania. He fought against the Ottoman Empire, impaling his enemies. His extreme cruelty to his victims, numbering tens of thousands, became legendary, and he was given the nickname Vlad the Impaler. The family name of Vlad of Wallachia was Dracula. “Dracul” in Romanian means “the dragon” or “the devil”. However, in real life, Vlad was regarded by his countrymen as a national hero, defending his country against the Ottoman Turks.
More recent TV series vampires like Buffy the Vampire Slayer (1996-2003) and The Vampire Diaries (2009-2017) portray vampires as characters who do not suck blood and they do have reflections in the mirror.
Even the evil nature of vampires has been transformed in children’s TV and movies. For example, in the TV series Sesame Street, The Count is a semi-professorial vampire who is obsessed with counting. In the animated movie, Hotel Transylvania, Count Dracula is a loving, if somewhat over-protective father.
What is Porphyria?
The name porphyria is taken from the ancient Greek word “porphura” meaning purple. The porphyrias are a group of 8 inherited or acquired disorders of heme biosynthesis. Heme is the pigment found in red blood cells and is part of the oxygen-carrying protein hemoglobin. A deficiency in any of the 8 enzymes leads to a jam in the biosynthetic assembly line, causing an accumulation of intermediary metabolites, which may be toxic. Exactly which porphyrins accumulate depends on the site and severity of the jam, resulting in a wide spectrum of symptoms.
Historical Aspects of Porphyria
Hippocrates (460-370 BC) is believed to be the first person to recognize porphyria, which he referred to as a blood and liver disease. In 1871 the German biochemist Felix Hoppe-Seyler was the first to identify the porphyrin ring which he named “hematoporphyrin”.
In 1881 Joseph Stokvis had a patient who, after taking the hypnotic drug sulphonal, passed dark red urine, and later this elderly woman became paralyzed and died. Stokvis deduced that the pigment in her urine was the hematoporphyrin, and he published his findings as a case of acute hepatic porphyria in 1889.
The term “porphyria” was coined by Jan Waldenstrom in 1937, and when he identified acute intermittent porphyria. There are now believed to be 8 types of porphyria, and by the 1990s, the molecular basis of each type of porphyria have been discovered.
Symptoms of Porphyria: General
With 8 types of porphyria, not surprisingly, there is a spectrum of clinical manifestations. Some types of porphyria are acute in onset and referred to as acute porphyrias. Symptoms can be neurovisceral (affecting the nerves, liver, cardiovascular and gastrointestinal system) and include abdominal and chest pains, vomiting, confusion, hypertension, tachycardia and occasionally paralysis and seizures. Another type of porphyria mainly affects the skin, and these result in blisters, itching, especially after exposure to sunlight. The teeth may also be discolored and distorted. In some cases the skin can lead to disfigurement of the face, fingers and toes. In other cases, the skin can become remarkably hairy, and this has led to the suggestion that the legend of werewolves may also have been inspired by porphyria.
Genetics
Francis Crick of DNA fame enunciated the central dogma of molecular biology, proclaiming: “one gene, one protein!” But as the enzymes involved in heme biosynthesis are proteins, therefore one can modify the central dogma by stating “one gene, one enzyme”. Abnormalities or deficiencies of the enzymes involved in porphyria must therefore have a genetic basis. Indeed this has been shown to be true. Patients with porphyria may have relatives with porphyria. The abnormal gene is due to a mutation of the gene. The inheritance follows Gregor Mendel’s laws of heredity. Porphyria can be inherited as autosomal dominant, autosomal recessive, or sex-linked. Genetic testing can determine whereabouts in the gene the mutation occurs.
Do Not Forget Hemoglobin
The blockage of the biosynthetic pathway means that the patient cannot produce enough heme to make hemoglobin, the red protein that makes our red blood cells red in color. Some of these defective red cells are picked up by the spleen which causes them to rupture, resulting in hemolytic anemia. Patients with porphyria can appear quite pale. Only blood transfusion can restore the hemoglobin to normal levels. Unfortunately, drinking blood by puncturing the neck blood artery or vein is not going to help the anemia because the intestinal digestive juices would break down the proteins.
General Symptoms
1. Photosensitivity
Six out of the 8 type of porphyrias have sensitivity to sunlight. Bright sunlight may cause painful blisters, burning, and swelling of the skin. This leads sufferers to avoid sunlight, and they only surface at night. It should be noted that the photosensitivity in some of the cutaneous porphyrias is quite mild, and therefore these people can withstand sunlight exposure. Of course, the non-cutaneous forms of porphyria are not bothered by the sun.
2. Fangs
Some types of porphyria are characterized by reddish-brown teeth which look rather sharp. This is exacerbated by the facial skin becoming disfigured and pulled back to expose the canine teeth. The gums can also become necrotic. Some of the intermediate metabolites of porphyria are fluorescent. Hence if a patient stands in a darkened room and opens the mouth, the teeth will fluoresce, and can be quite frightening!
3. Drinking Blood
Patients with porphyria are often anemic because of the defective manufacture and the destruction of red blood cells. It is postulated that to replenish their lack of blood, they might drink animal blood. The other known observation is the urine of porphyria patients turning port-wine red on standing. Frightened people might attempt to explain this phenomenon they could not understand by suggesting that porphyria patients drink blood.
4. No Reflection in the Mirror
One interpretation suggests that porphyria sufferers are so afraid of their own disfigured and distorted face with eroded lips, nose, ears, and prominent canine teeth, that they shun the mirror and move away so that they themselves as well as others cannot see their reflection.
5. Aggression
Patients with acute intermittent porphyria and variegate porphyria have bursts of irritability, aggressive and even violent behavior. Hence they may be regarded as being dangerous.
6. Garlic Wards off Vampires.
Although several articles mention exacerbation of porphyria by garlic, I have not been able to find any original source materials to verify this observation.
The Madness of King George III
Did King George III suffer from porphyria? It has been suggested that King George III (1738–1820) of Great Britain, suffered from variegate porphyria, which is characterized by episodes of madness. According to notes written by King George’s physicians looking after him, he suffered from bouts of abdominal pain, constipation, skin rash, confusion and severe weakness of his limbs. He also passed dark red urine during his episodes of madness. The porphyria may have made George III more temperamental, unable to think clearly, leading him to make some rash decisions which precipitated the American revolution and loss of these colonies.
Did Werewolf and Vampire Legends Both Derive Inspiration from Porphyria Individuals?
Based upon certain perceived similarities between the condition and the folklore it has been suggested that porphyria serves as the origin of both the vampire as well as the werewolf legend. Li Illis wrote an article entitled "On Porphyria and the Aetiology of Werewolves" that was published in Proceedings of the Royal Society of Medicine in 1974. Nancy Garden also argued for a connection between porphyria and vampires in her 1973 book, Vampires.
In 1985, biochemist David Dolphin published his paper "Porphyria, Vampires, and Werewolves: The Aetiology of European Metamorphosis Legends" in the American Association for the Advancement of Science, and this gained widespread media coverage. In his paper, he proposed that porphyria individuals accumulated photodynamic pigments in the epidermis and retina, which rendered them sensitive to light. This resulted in the blistering and pain of the skin, the withering of fingers and lips, and the retraction of the gums which made the teeth appear fang-like and reddish in color. With a bit of wild imagination and fear, simple villagers seeing such individuals might embellish the descriptions of them and create the legend of the vampire.
A Brief Note on Vampire Bats
Vampire bats (Desmodus rotundus) feed solely on blood, and their stomachs can absorb blood plasma rapidly. This would become the inspiration for Dracula, the vampire, to drink the blood of his victims, leaving the telltale double-puncture marks on his victim’s necks.
What About Werewolves?
Herodotus (484 BC – 425 BC) in his Histories, described the Neuri, a tribe in Scythia, who became transformed into wolves annually, and then spontaneously changed back to their human form. In Medieval Europe, the corpses of people executed as werewolves were cremated rather than buried in order to prevent them from being resurrected as vampires. Before the end of the 19th century, the Greeks believed that the corpses of werewolves, if not destroyed, would return to life as vampires in the form of wolves or hyenas which prowled battlefields, drinking the blood of dying soldiers. In the same vein, in some rural areas of Germany, Poland and Northern France, it was once believed that people who died in mortal sin came back to life as blood-drinking wolves.
Are There Vampires in Asia?
There are two candidates. The pontianak and the chiang-shih. The pontianak is from Indonesia, and is a woman who died in childbirth. She is pale-skinned, has long black hair, and is dressed in white. She flies at night as a bird, attacking and killing her victims, infants or men she seduces, by ripping into their abdomens with her sharp fingernails, and eating their organs.
The chiang-shih originates from China, and is a rather savage vampire formed when an inferior soul remains in its body after death, because of improper burial rites or a cursed despicable death. It can take various forms including something that resembles a human, but it could also become a wolf, or it may glow a phosphorescent green, or have serrated teeth, talons or shaggy white hair.
Treatment of Porphyria
Most types of porphyria can be treated by blood transfusions which can provide some relief of their symptoms. Because the heme pigment can survive digestion and is absorbed from the intestines, it has been postulated that by drinking actual blood, porphyria patients might derive some relief from their symptoms. This is unproven.
Bone marrow transplantation might be a feasible method of treatment in the future. As with any genetic disorder, there is always the possibility of gene therapy. However, these therapies are not visible in the current therapeutic horizon.
Conclusions
If you believe that porphyria is the inspiration for the legend of vampires and werewolves, then judging by the ubiquity of these legends, porphyria must have been manifest worldwide.
Perhaps it is more common that we think. Hands up those of you who avoid going out in the day, and become reanimated at night?
"Aroooo!!!!"
References
Videos
Articles
1. Illis L. On porphyria and the ætiology of werewolves. Proc R Soc Med. 1964;57(1):23-26. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1897308/.
2. Dolphin, D. 1985. Werewolves and vampires. Annual meeting of American Association for the Advancement of Science.
3. Cox TM, Jack N, Lofthouse S, Watling J, Haines J, Warren MJ. King George III and porphyria: an elemental hypothesis and investigation. Lancet. 2005;366:332-335. http://www.empereurperdu.com/Documents/LancetGeorgeIII.pdf.
4. Warren, M. J., M. Jay, D. M. Hunt, G. H. Elder and J. C. G. Röhl. 1996. The maddening business of King George III and porphyria. Trends in Biochemical Science 21:229.
5. James DG. Waldenstrom's syndromes. QJM. 2010;103(1)67-68. http://qjmed.oxfordjournals.org/content/103/1/67.full.
6. Maslin J. The Madness of King George (1994). Going mad without being a sore loser. New York Times Web site. December 28, 1994. http://movies.nytimes.com/movie/review?res=9B0DE2D8143BF93BA15751C1A962958260.
7. Heinemann, I. U., M. Jahn and D. Jahn. 2008. The biochemistry of heme biosynthesis. Archives of Biochemistry and Biophysics 474:238.
Kenneth Lyen
23 June 2018, updated 28 April 2020