Dracula Needs a Doctor. Like, REALLY

You don’t have it, you don’t know anyone who has it, you haven’t heard of it and probably don’t know many people who have. But porphyria has been recognized (at least superficially) since Hippocrates (Lane, “Purple”) and is suspected to have had a very profound impact on fiction and culture. Doesn’t sound ring a bell? A rare group of genetic disorders, porphyria sufferers experience complications resulting from impaired heme production (as in “heeeme…I’ll get to this soon”). These complications include extreme sensitivity to sunlight, abnormal hair growth, emotional and/or mental disorders and physical deformities such as reddened teeth and skin tightening and pulling away from the mouth, leaving the sufferer’s face in a semi-permanent snarl (Illis 195). If the words, “vampire” or “werewolf” or “HOLY SHIT WHAT IS THAT” have popped into your head by now, you’re not alone. The symptoms of porphyria have inspired numerous scientists, doctors and anthropologists to wondering if vampire and werewolf mythology has some basis in reality. A realistic conclusion or not, it’s an extremely intriguing idea, particularly to someone who (like myself) has long enjoyed terrifying tales of creatures of the night.
Porphyria as the “Vampire Disease” or “Werewolf Disorder” has yet to be accepted by many, however. This explanation of the myth turns the monsters to victims, and their satanic origins into genetic ones, but it still places a stigma on current sufferers. Additionally, some of the symptoms that match up with vampire or werewolf characteristics may not occur frequently enough together for sufferers to inspire any folklore.
Cause
As stated in my introduction, porphyria is a group of genetic disorders found in animals such as humans, cattle, cats, squirrels, pigs and hedgehogs, in addition to various plants (Lane “Purple”; Wolff). The specific problem is a defective gene that codes for a liver enzyme involved in heme production (Sherman 4). This gene is inherited in either an autosomal recessive pattern or an autosomal dominant pattern (“Learning About Porphyria”). This means the porphyria-positive allele (Literally, the “alternate forms of a gene”. A recessive gene needs two copies to work while a dominant gene needs only one) is found on non-sex chromosomes and may or may not dominate other alleles present. One porphyria, porphyria cutanea tarda is commonly triggered by environmental factors similar to those that trigger symptoms in other porphyrias (“Learning About Porphyria”). But I will return to this.
Characterized as a “hereditary error in metabolism” (Sherman 3), porphyria affects the production of heme in the blood, which contains iron and binds oxygen for transport. Different porphyrias are characterized by different problems in the eight steps of heme production (Sherman 3). Most commonly it’s the third or seventh steps that possess the enzyme deficiency problems (Sherman 4). For now, don’t worry about the steps themselves, just know that if a liver enzyme involved in one step or the other is abnormal or missing, porphyrins (heme intermediates) accumulate in various parts of the body and cause symptoms (Sherman 3).

The Different Porphyrias
Porphyric anemias can be divided into two broad categories: cutaneous porphyria and acute porphyria. Cutaneous porphyrias, as the name suggests, primarily affect the skin. Different porphyrias under this classification include congenital porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, hereditary coproporphyria, variegate porphyria and porphyria cutanea tarda (“Learning About Porphyria”). These differ primarily in their inheritance (autosomal dominant versus autosomal recessive) and the different steps of heme production at which the enzyme is hindered. Porphyria cutanea tarda is actually notable in that it is frequently developed, rather than genetically inherited (“Learning About Porphyria”). Factors that encourage its development include hormones, other diseases (HIV, Hepatitis C, etc) drugs, alcohol, and iron deficiency (“Learning About Porphyria”). Whatever the factor, it must be severe enough to impair liver enzymes and, as a result, production of heme (“Learning About Porphyria”). Additionally, severity of symptoms varies between cutaneous porphyrias, although there is no notable difference in said symptoms. Symptoms include extreme sensitivity to sunlight that can leave severe blisters and burns, cartilage and bone-destroying ulcers that target facial features and fingers, red teeth, wine-colored urine and hyperplasia of the bone (Illis 195-196; Sidky 239). These are a result of accumulation of porphyrins (as in the teeth and urine) and the conversion of porphyrins to toxins by sunlight exposure (Lane “New Light”). Other problems arise from these symptoms; in response to sunlight sensitivity, the skin will tan and scar easily and abnormal hair growth may also occur to protect the skin from light (Illis 195-196). Scarring causes the skin to tighten, that and gradual degradation of the lips and gums gradually expose the teeth almost permanently (Lane “New Light”).
Acute porphyria on the other hand, is known for its “nervous manifestations” (Illis 196). That is, complications within the nervous system. Two porphyrias in this classification are acute intermittent porphyria and ALAD deficiency porphyria (“Learning About Porphyria”). Again, these are differentiated chiefly by their mode of inheritance, the heme production steps hindered and rarity. The symptoms themselves are caused primarily by build up of porphyrins in the nervous system, leading to intense abdominal, back and chest pain, in addition to muscle cramps, paralysis, mental disorders (that may involve hysterical fits), vomiting, constipation, numbness, fever, chills and (as in cutaneous porphyrias) red urine (Sherman 2-4).
In both cutaneous and acute porphyrias, initial onset and subsequent “attacks” of symptoms are catalyzed by certain environmental factors. Even in the most common porphyria, acute intermittent porphyria (which is inherited in an autosomal dominant pattern), something must trigger symptoms for them to arise (Lane “Purple”). Environmental triggers are similar to those that may cause cutaneous porphyria tarda and include toxins, hormones, drugs, alcohol, stress and even dieting or fasting (Lane “Purple”; “Learning about Porphyria”).

Treatment
Despite some of the dramatic effects of porphyria, treatment is pretty straightforward. Doctors will (most obviously) recommend avoiding sunlight, as well as heme transfusions and, surprisingly, bloodletting. Hopefully I do not need to explain the need to avoid the sun (here’s a hint if I do: HURTS LIKE A BITCH), but the other treatments provide working heme to the body (which, subsequently, inhibits the body’s crippled heme production) and removes accumulating porphyrins. For more serious cases, removal of the spleen or bone marrow transplants may be necessary. (Lane “Purple”)
Porphyria in plants and animals are currently being studied for other, future treatments. Namely porphyria in squirrels, who seem to suffer little to no ill effects, and in maize, which utilizes chlorophyll (a plant porphyrin) and will actually wither and die as a result of sun exposure when afflicted with porphyria. (Lane “Purple”)

Where Medicine Meets Myth
Conflict
Despite the overall rarity of porphyria as a disease, scientists and doctors are still inclined to point to it as a possible factual basis for vampire and werewolf myth. Inbreeding in secluded rural areas (where superstitions would theoretically have the strongest influence), would increase frequency of porphyria and has been observed to do just that (Illis 196; Lane). The distinct and shocking symptoms that so disfigure sufferers, accompanied by night-wandering and possibly disturbed behavior, would be noticeable and more than a little suspicious to neighbors. Without the medical knowledge available to see that the red teeth and hairy face were a result of faulty genetics, most people would attribute such an appearance to evil spirits or the Devil. Then, to warn others of this occult danger, these people would tell their friends, who would tell their friends, and so on. Until Weird Delbert Who Lives by the Mountain become Weird Delbert Who Eats People and Howls at the Moon. Perhaps it sounds like a stretch, but consider more recent evolution of the myth: vampires went from common demons in folk tales to the sophisticated and deadly Count Dracula, to teenage dreamboat Edward Cullen who won’t drink human blood on moral grounds, sparkles and finds Forks, Washington a nice place to settle. I mean really, who wants to live there? Port Angeles is cooler and you have to drive there for EVERYTHING anyway). So if the myth can evolve so far in more recent years, it’s much less of a stretch for a few disfigured and disturbed people to be vastly misunderstood by an ignorant populace.
To put the nail in the coffin, so to speak, some scientists indicate modern treatment for porphyria, heme transfusions, and suggest that sufferers hundreds of years ago may have tried to counteract their anemia by drinking human or animal blood (Boffey). Heme does not digest fully and may be absorbed by the small intestine, so this would be a reasonable, if primitive, treatment (Lane “Purple”). To explain how the idea that biting a person would turn them into a vampire or werewolf, one scientist, Dr. David H. Dolphin proposed in a famous presentation to the American Association of Scientific Advancement that:
If that victim then bit a sibling [who shared their disorder] to get blood, the shock of the experience might have triggered an attack of the disease in the bitten sibling, thus producing another vampire. (Boffey)
Finally, Dr. Dolphin also stated that even fear of garlic by vampires could be based in the ability of garlic to aggravate symptoms of porphyria (Boffey).
Although an interesting idea, there is not significant research to back up Dolphin’s claims regarding either transmission or garlic. In fact, patients with porphyria have been observed to, “eat garlic with impunity” (Pierach). What they would be truly unlikely to eat, in the present or past, would be blood. Regardless of the benefits of ingesting heme, it is highly unlikely that people hundreds of years ago would realize that something in their blood was making them sick and that the logical treatment would be ingesting human blood. More importantly, in regards to the other symptoms that echo characteristics of vampirism or lycanthropy (severe disfiguration, extreme light sensitivity, fits of hysteria and abnormal hair growth), they do not occur together with enough frequency or severity to be noticeable. Mental disorders are most typical of acute porphyria, and though (cutaneous) variegate porphyria displays cutaneous and acute type symptoms, only the extremely rare erythropoeitic porphyria is described to have cutaneous symptoms strong enough to give the sufferer a monstrous appearance (for the most part, light sensitivity isn’t enough to cause very widespread scarring and abnormal hair growth is fine and not very noticeable) but still no frequent nervous symptoms (Pierach; Lane “Purple”).

Impact
Regardless of where stories of vampires and werewolves originated, even attempting to prove their ties to porphyria does have serious implications. Comparing a patient with a possibly severe genetic disorder to a fictional creature of terror can be demeaning and dehumanizing. Many do not believe that werewolves or vampires exist, but if told the fiction sprang from fact, sufferers of porphyria may be branded with the stigma of being “real life vampires/werewolves.” I do not suggest that this theory should not be explored, but in the interest of the feelings of those living with porphyria, it must be approached with care and delicacy.

Works Cited
Boffey, Philip M. “Rare Disease Cited as Cause for ‘Vampires.’” New York Times 31
May 1985. 17 Nov. 2010
Illis, Lee. “On Porphyria and the Aetiology of Werewolves.” The Lycanthropy Reader.
Ed. Otten, Charlotte. Syracuse, NY: Syracuse University Press, 1986.
Lane, Nick. “Born to the Purple: The Story of Porphyria.” Scientific American, 16 Dec.
2002. 17 Nov. 2010
— “New Light on Medicine.” Scientific American 288.1 (16 Dec. 2002): 38+. 17 Nov.
2010
“Learning About Porphyria.” National Human Genome Research Institute. 10 Jun.
2010. National Institutes of Health. 17 Nov. 2010
Pierach, M.D., Claus A. Letter. New York Times. 13 Jun. 1985: A34.
Sherman, Irving W. Twelve Diseases That Changed Our World. Washington D.C.:
ASM Press, 2007.
Sidky, H. Witchcraft, Lycanthropy, Drugs and Disease. New York: Peter Lang
Publishing, Inc., 1997.
Wolff, Carlos F., Paulina Corradini R.M.V., Galaxia Cortés L.M.V. “Congenital
Erythropoeitic Porphyria in an African Hedgehog.” Journal of Zoo and Wildlife Medicine. 36.2 (2005): 323-325. BioOne. Whitman College Lib., Walla Walla, WA. 18 Nov. 2010