Porphyria: The Vampire Disease By Dr. Peter W. Kujtan, B.Sc., M.D., Ph.D. Article printed on page 23 in the October 29-30, 2005 issue of

The Mississauga News under the feature: Health & Wellness, Medical Matters.

Dr. Peter W. Kujtan



There exists a fairly rare group of genetic disorders that have unfairly branded many sufferers with the term "vampire". These poor souls are extremely sensitive to sunlight that can easily result in burns and abrasions, and so they prefer darkness. They suffer from acute attacks of abdominal pains, vomiting and loose stools. Their urine may have a purplish-red color leading some to wrongly believe that it results from drinking blood. Those afflicted may have increased hair growth, and with repeated damage, their skin tightens and shrinks. When this occurs around the mouth, the canine teeth appear to be more prominent, and suggestive of fangs. At other times, it causes depression and affects the brain to produce peculiar behavior. It is probably no surprise that garlic makes all the symptoms worse. Porphyria is a misunderstood condition that has affected the likes of Mary Queen of Scots and King George III.

Porphyria refers to a growing collection of disorders in which there are abnormalities in the enzymes involved in heme production. Heme is an iron-containing compound used throughout the body. The most common heme-containing substance found in our bodies is the hemoglobin in our red blood cells - an essential component to transport oxygen around our bodies. There are at least eight steps in the production of heme, and at least eight different types of porphyria can result when an enzyme malfunctions and levels of intermediate substances rise to beyond what the body is accustomed to. It is a condition that runs in families and is inherited. At one time, it was thought to be a dominant trait requiring only one gene from one parent, but there are recessive forms now identified in which genes need to come from both parents.

Porphyria is very difficult to diagnose. Its symptoms mimic those of a hundred other conditions. Traditional testing rarely shows a problem, and patients who develop recurrent acute attacks often require strong narcotics to control the abdominal pain. They often undergo surgery for appendicitis or ovarian conditions without positive findings, and then run the risk of being labeled with a narcotic addiction. There are no easy tests available to diagnose the various porphyria conditions. The best time to attempt diagnosis is when the symptoms are active. Special urine tests looking for PBG (porphobilinogen) and ALA (delta-aminolevulinic acid) can provide a starting clue. More intricate testing then follows in an attempt to make a precise diagnosis.

Porphyria sufferers are affected by anything that can alter the functioning of the deficient enzymes. This can occur to different degrees. Some people are affected so slightly that the diagnosis is never considered. Herbs, drugs, alcohol and even hormones can produce acute attacks by interfering with enzyme function. Sufferers are counseled as to which medications to avoid. Maintaining a hardy diet low in carbohydrates is essential. The best news of all is that if the diagnosis is considered, then infusing heme molecules produced in the laboratory can treat acute attacks. After all, heme is what the body is ultimately craving for when an attack occurs.

When encountering the supernatural, consider the evidence because it usually provides an alternately plausible explanation. Have a safe All Hallow's Eve, and remember that those vampires may be nothing more than ordinary people experiencing distress. Have a treat on me.

Related resources:



● About Porphyria, Porphyria Overview, Porphyria Types, Testing, Diet & Nutrition, Drugs & Porphyria, Special Considerations, History of Porphyria, from American Porphyria Foundation.



● Testing for Porphyria from American Porphyria Foundation. "Why laboratory tests are important for diagnosis of porphyrias. Lab Test: The porphyrias are readily diagnosed by laboratory testing, especially at or near the time of symptoms. However, the number of tests available is very large, and the results among laboratories are not always reliable."



● Porphyrins & Porphyria diagnosis. "The porphyrias are caused by deficiencies of enzymes of the heme biosynthetic pathway ... Heme is essential for life, and each enzyme is also essential, because it is responsible for one of the eight steps in making heme. Each porphyria is due to a deficiency but not a complete absence of one of the enzymes."



● Porphyria Videos from American Porphyria Foundation.



● Acute Porphyria Videos.



● Haemophilia and Porphyria - Royal diseases from Tainted Blood. YouTube video , 45:51 min. Published on May 1, 2011 by CampaignTB. "This programme explores how, in trying to preserve the bloodline, the monarchy may have spread genetic disease far and wide - from Porphyria wreaking havoc with British royals to Haemophilia finding its way from Buckingham Palace, all the way to Moscow."



● What is Porphyria?? (The Disease). YouTube video , 5:14 min. Published on Dec 29, 2008 by deathbyporphyria. "The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). Deficiency in the enzymes of the porphyrin pathway leads to insufficient production of heme ... The largest problem in these deficiencies is the accumulation of porphyrins, the heme precursors, which are toxic to tissue in high concentrations."



● Porphyria by Dr. Carlo A Oller, MD FACEP, Emergency Physician. YouTube video , 2:41 min. Published on Sep 21, 2011by DrER.tv. Comment from viewer Glen Eric Huysamer (2013): "There is a lot missing from this information video... there are three strains, it is a genetic decease passed on from the female, to the first born and then third and five child and so on.

The farther does not pass on the gene.

Males generally suffer more severely from the acute attacks than females (not to say that acute attacks are very debilitating to both genders, men just suffer more attacks)

There is no cure.

Alcohol and many other drugs (easily prescribed to others) can kill a porphyric."



● Porphyria from Wikipedia. "The porphyrias are a group of rare inherited or acquired disorders of certain enzymes that normally participate in the production of porphyrins and heme. They manifest with either neurological complications or skin problems or occasionally both."



● Origins of vampire beliefs from Wikipedia.



● Origins of Belief in Vampires / How Vampires Work by Tom Harris, How Stuff Works. "One of the most interesting 'vampire diseases' is porphyria. Porphyria is a rare disease characterized by irregularities in production of heme, an iron-rich pigment in blood. People with the more severe forms of porphyria are highly sensitive to sunlight, experience severe abdominal pain and may suffer from acute delirium ... Some porphyria sufferers do have reddish mouths and teeth, due to irregular production of the heme pigment."



● Learning about Porphyria from genome.gov - NHGRI (National Human Genome Research Institute): What is porphyria? What are the signs and symptoms of porphyria? How is porphyria diagnosed? How is porphyria treated? What do we know about porphyria and heredity? What triggers a porphyria attack?



● Porphyria from MedicineNet. Symptoms, diagnosis, treatment.



● Vampires don't exist, but porphyria does by petitpwr. Posted May 29, 2012. CNN iReport.



● Porphyria: Vampire Disease. YouTube video, 2:27 min. Published on Mar 1, 2015 by They will kill you. "Porphyria is also known as the Vampire Disease. This rare condition causes horrific changes to your body ... What is it? Where is it located? How will it kill you? How to survive: Acute porphyria is treated through a high-carb diet through the use of intravenous sugar. Hemin injections are also administered in order to limit the body's production of porphyrins and control the victim's acute attacks. Cutaneous porphyria patients must focus on decreasing the amount of porphyrins as well by reducing their exposure to sunlight, drawing blood, and taking medications such as hydroxychloroquine (Plaquenil) and chloroquine (Aralen). Beta carotene may also be prescribed to help with the patient's photosensitivity problems."



● Genetic Disease, Porphyria (Also known as the Vampire Disease). YouTube video , 6:46 min. Informative slideshow with images. Uploaded on Apr 14, 2011 by heartcandiee.



● What is Porphyria?? (The Disease). YouTube video , 5:14 min. Slide show with text only. No images. Uploaded on Dec 29, 2008 by Porphyria Disease Dying. "The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). Deficiency in the enzymes of the porphyrin pathway leads to insufficient production of heme ... The largest problem in these deficiencies is the accumulation of porphyrins, the heme precursors, which are toxic to tissue in high concentrations."



● Haemophilia and Porphyria - Royal diseases from Tainted Blood. YouTube video , 45:51 min. Uploaded on May 1, 2011 by CampaignTB. "The Royal family has had many instances of unexplained illnesses and premature death during it's history - George III's 'madness', the downfall of Mary Queen of Scots and Rasputin bringing down the Russian throne, can all be linked back to Queen Victoria. This programme explores how, in trying to preserve the bloodline, the monarchy may have spread genetic disease far and wide - from Porphyria wreaking havoc with British royals to Haemophilia finding its way from Buckingham Palace, all the way to Moscow."



● King George III: Mad or misunderstood? From BBC.co.uk, 13 July 2014. "The king's hair was laden with arsenic. It contained over 300 times the toxic level ... Porphyria can be a devastating disease. In the acute form, it can cause severe abdominal pain, cramps, and even seizure-like epileptic fits ... Professor Warren knew that porphyria attacks can be triggered by a wide range of substances - alcohol, common medication, even monthly hormones. Perhaps arsenic could also be a trigger. He contacted Professor Tim Cox, an expert on extreme cases of porphyria at Addenbrookes Hospital in Cambridge. Professor Cox confirmed his guess - arsenic was listed as a trigger. And the massive levels found in King George's hair suggested that the arsenic had been liberally ingested over a long period of time ... His porphyric attacks had been brought on after a lifetime's arsenic accumulated in his body, and then were made much more prolonged and more severe by the medicine to treat him."



● Heme Synthesis and Porphyria - USMLEntertainment. YouTube video , 6:24 min. Published on Apr 18, 2013 by Study with Substance P.



● Porphyria Slide Share by Caroline Karunya, Student at Tbilisi States Medical University. Published on Mar 18, 2015.



Brothers Simon, 13, and George, 11, with Parents

● Brothers Suffer from Rare Condition Similar to Vampirism. YouTube video , 1:46 min. Uploaded on Feb 24, 2011 by Barcroft TV. "Simon and George Cullen have a rare disease similar to vampirism, which gives them characteristic traits similar to vampires. Simon, 13, and his brother George, 11 both suffer from Hypohidrotic Ectodermal Dysplasia (HED), an extremely rare condition also known as 'vampirism' that only affects 7,000 worldwide. The brothers blister after minutes in the sun because of their vampirism condition and have sharp pointed fang-like teeth that make them look a little like vampires - they also cannot sweat and are very pale. The boys, who live with mum Mandy and dad John, both 45, also share a name with another famous Vampire - Edward Cullen, from the Twilight series."