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.
● About Porphyria, Porphyria Overview, Porphyria Types, Testing, Diet & Nutrition, Drugs & Porphyria, Special Considerations, History of Porphyria, from American Porphyria Foundation.
● 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 Better Medicine, Health Grades (formerly Wrong Diagnosis). Symptoms, Diagnosis, Treatment and Causes of Porphyria.
● Vampires don't exist, but porphyria does by petitpwr. Posted May 29, 2012. CNN iReport.
● Porphyria. YouTube video, 2:41 min. Uploaded 21 Sep. 2011. Dr. Oller explains acute intermittent porphyria. Diagnosis, treatment, and follow up.
● Porphyria Slideshow from Porphyria Association, Australia. Site also includes: What is Porphyria? Why study Porphyria? Why test for Porphyria? How to test for Porphyria, Testing locations in Australia, For Doctors, Safe/Unsafe drugs, Treatment anecdotes.
● Brothers Suffer from Rare Condition Similar to Vampirism from Barcroft TV. YouTube video, 1:46 min.
● More info and photos of Simon and George. Translated from Georgian: Hypohidrotic Ectodermal Dysplasia - This is a rare genetic davadebaa. It's only 7,000 people have the disease around the world. Disease of the skin of an anomaly, distropatsias teeth, rickets and other diseases cause. This disease in Britain, the brothers Simon and George calendar. [George and Simon Cullen]"
● vampire syndrome disease. Posted June 23, 2011 by suryadarmadi in disease, vampire. Includes a photo of two boys with vampire syndrome disease.
● CNN Health lists Porphyria as one of the Ten mystery diseases you've never heard of. "Purple urine and feces make porphyria infamous . . ."
● Real-life VAMPIRE! Meet the woman who is allergic to the SUN by Charlotte McDonagh, DailyStar.co.uk. Published 16 Jan. 2015. "Lorraine Valentine ended up in hospital for six days after going on her first EVER beach holiday in June last year with her kids ... The mum, from Bournemouth, Dorset, suffers from the rare disease erythropoietic protoporphyria (EPP) which causes a severe burning sensation when she is exposed to sunlight or UV light."
● 17 What is porphyria, why is it called "The Vampire Disease"? "Porphyria is actually a group of diseases, all pertaining to the metabolism of porphyrin rings that, along with iron, are responsible for the oxygen-carrying properties of hemoglobin--the red ingredient in blood. Porphyria is a very rare genetic disorder and is not contagious."
● What Is Porphyria? from WiseGeek. "All types of porphyria are rare, and the condition is often misdiagnosed . . . Diagnosis is made through analysis of urine, blood, or stool samples, and tests . . . There is no cure for porphyria, but it can be managed through diet and drug therapy . . . Biochemist David Dolphin speculated in a 1985 speech that erythropoietic porphyria cases may have been the basis for vampire legends, due to the sufferers' sensitivity to light and strange appearance. He also suggested that people with porphyria may have craved and ingested blood in the belief that it would alleviate their symptoms and that they have an aversion to garlic, but neither of these speculations has ever been substantiated."
● Vampires/Dracula from Castle of Spirits by Rowena Gilbert. "Another medical condition attributed to vampires publicly aired by Professor David Dolphin (Canadian biochemist) in 1982 is that they could be suffering from a congenital blood disorder known as iron-deficiency porphyria now dubbed 'Dracula Disease'. The metabolism of sufferers is very inefficient in combining iron with complex compounds called porphyrins to yield haem, an much needed component of the blood pigment haemoglobin. The disease results in their skin becoming increasingly impregnated with iron-free porphyrins, which are stimulated by daylight to incite a chain of reactions causing skin lesions and other disfigurements. To avoid this, sufferers tend to only come out at night - they also suffer from gum tightening which causes the teeth to protrude - giving them vampire-like appearance and habits. Even more fascinating is that garlic activates a killer enzyme which destroys that which is most valuable to them - the precious haem which their bodies is lacking - hence they are pretty much allergic to it!"
● Step 7 - Medical Information: The "Dracula Disease". "This rare disease known as the 'vampire' or 'Dracula' disease, or by its proper medical name, porphyria, is thought to be one of the reasons for the vampire scares throughout time in cultures around the world."
● Born to the Purple: the Story of Porphyria by Nick Lane, Scientific American. Published 16 Dec. 2002. "Porphyrins are light-activated chemicals that can be used to combat ills including tumors and diseases of the eye. But they have a dark side: when the wrong forms of them build up in the body, they cause a disease called porphyria ... Porphyria is named from the ancient Greek word porphura, meaning purple."
● Vampires: Fact, Fiction and Folklore. The Real History of Vampires by Benjamin Radford, LiveScience Contributor, 29 Oct. 2012. "Vampire Origins: The vampires most people are familiar with (such as Dracula) are revenants - human corpses that are said to return from the grave to harm the living; these vampires have Slavic origins only a few hundred years old. But other, older, versions of the vampire were not thought to be human at all but instead supernatural, possibly demonic, entities that did not take human form."
● Porphyria the Vampire Disease That Started the Legend by Melanie Gueco, Knoji - Consumer Knowledge. "The Vampire Disease, or porphyria in scientific term, is a set of genetic disorders characterized by the malfunction of the hemoglobin production. It is a rare disease that is said to originate from the intermarriages of the European nobility. The good news is, it is not contagious. Unfortunately, it is not curable.
While the term 'porphyria' is relatively new, the disease itself has been in existence since the beginning of time. It is referred to, before, as a liver or a blood disease due to its symptoms. It was later called the 'Vampire Disease' and was actually the start of the vampire legend."
● 16th century 'vampire' unearthed - complete with a rock in its mouth to stop blood sucking and a stake driven through its LEG by Jonathan O'Callaghan, from DailyMail.co.uk, 13 May 2014. "Archaeologists in northwestern Poland have a found a suspected vampire. The burial was found in a cemetery in the town of Kamien Pomorski. A stake had previously been driven through one leg of the skeleton. This was designed to stop it rising from the grave after its death. It also had a small rock in its mouth to stop it sucking blood from victims."
● Diseases and Conditions: Porphyria from Mayo Clinic. Definition, Symptoms, Causes, Complications, Preparing for your appointment with the doctor, Tests and diagnosis, Treatments and drugs, Lifestyle and home remedies, Prevention.
● Painful porphyrins by Julie L. McDowell, Diseases and Disorders. "I was only 17 years old when I suffered my first attack of porphyria. The onslaught of pain was rapid and vicious. When I was asked by the attending physician to describe the pain, I likened the agony to that caused by a thousand flaming swords embedded deeply in my abdomen."
"Porphyrins are complex molecules in the body that combine with iron to produce heme, which is responsible for giving blood its red color and combines with globin to form hemoglobin. Besides delivering oxygen through the body's circulatory system, heme is important in metabolism and human physiology.
Porphyria is a genetic disease that is caused by an enzyme deficiency in heme production. Heme is synthesized from smaller molecules through several enzyme-catalyzed steps in a biochemical pathway. An enzyme deficiency in any of these steps inhibits heme production, causing porphyrins to accumulate and clog the pathway. The high level of porphyrins is responsible for the physical symptoms, such as port-colored urine, sensitivity to sunlight, and the mental instability that sometimes accompanies this disease."
● Porphyria from British Liver Trust. What is Porphyria? What are the symptoms of porphyria? Diagnosis. Prevention. Treatment. Looking after yourself. Who else can help?
● Porphyria Overview from the Porphyrias Consortium. The Porphyrias, Classification of the porphyrias (Porphyrias are classified as acute or cutaneous depending on whether the symptoms are neurological or cutaneous. They are also classified as hepatic or erythropoietic), The Acute Porphyrias, The Cutaneous Porphyrias, Inheritance of the Porphyrias, Treatment of the Porphyrias, Diagnosis of the Porphyrias. What is the Porphyrias Clinical Research Consortium?
● Porphyria - Greek for "Purple Urine" from Mall-net. "Diseases characterized by problems in the heme synthesis biochemical pathways. This is often the base cause of Multiple Chemical Sensitivities (MCS), light sensitivity, some forms of skin problems, and wine colored or purple urine; but is not the only condition that can cause these problems."
● Porphyria Awareness Week April 20-26, 2014 from American Porphyria Foundation (APF).
● Treatment Options from American Porphyria Foundation.
● Acute porphyrias - patients' stories. YouTube video, 4:25 min. Published 28 Jan. 2014. "Porphyrias and acute porphyrias can be typified by unexplained/acute abdominal pain, neurological or psychological manifestations and urine that turns red when exposed to light ... Urine darkening during acute attacks of porphyria is very likely but is not necessary."
● Genetic Disease, Porphyria (Also known as the Vampire Disease). YouTube video, 6:46 min. Uploaded 14 Apr. 2011.
● vampire disease. YouTube video, 3:44 min. Published 12 Dec. 2012 by TyannaLashae.
● Porphyria: All Information from University of Maryland Medical Center. Overview, Symptom, Treatment, Prevention.
● Porphyria Synonyms from ClinicalKey.com, Hematology. Synonyms of Porphyria:
● ALAD porphyria
● Delta-aminolevulinic aciduria
● Erythrohepatic protoporphyria
● Gunther disease
● Intermittent acute porphyria
● Porphyria variegata
● Royal malady
● South African porphyria
● Swedish porphyria
● Toxic porphyria
Plus: ● Twilight phenomenon.
● Porphyria from Genetics Home Reference, U.S. National Library of Medicine, National Institutes of Health.
● Guide to Porphyrias: A Historical and Clinical Perspective by Stacy E. Foran, MD, PhD, and György Ábel, MD, PhD. "Porphyrias often are misdiagnosed because patients have vague symptoms. However, acute forms of porphyria can be life-threatening, so it is important to make an accurate diagnosis and initiate proper medical management. We discuss the history, pathogenesis, clinical manifestations, diagnosis, and treatment of porphyrias and then briefly describe the 8 types of porphyrias and their distinguishing features."
"Porphyrins were named for the Greek root for "purple" (porphyra). The name porphyria commonly is credited to Schultz, who was a German medical student in 1874. B.J. Stokvis, MD, made the first clinical description of acute porphyria in 1889. In 1930, Hans Fischer, a Nobel laureate, described heme as the crypt that makes blood red and grass green. In 1937, Waldenström in Sweden published his findings on one specific type of porphyria, acute intermittent porphyria (AIP). By the 1960s, all known types of porphyria had been identified and environmental factors were shown to affect the disease course. Research in the 1980s and 1990s led to the identification of the molecular defects in each type of porphyria. Currently, scientists have focused on gene therapy as a treatment for porphyria."
● Porphyria from MedlinePlus.
● Porphyria from National Digestive Diseases Information Clearinghouse (NDDIC), a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health (NIH).
● Porphyria: Acute, Biochemistry, Genetics, Unsafe drugs, Acute Intermittent Porphyria includes photo, from Washington University in St. Louis, Department of Neurology.
● Porphyria from the Doctor's Doctor, a technical article intended for the medical profession.
● Porphyria from Better Health Channel, Australia. "Summary: Porphyria occurs when the body cannot convert naturally occurring compounds (called 'porphyrins') into heme (or haem), which contains iron. Porphyria can affect the skin, gastrointestinal system, nervous system or all of these. Diagnosis can be delayed because porphyria mimics other conditions such as Guillain-Barre syndrome, eczema, multiple sclerosis and irritable bowel syndrome." Symptoms, Porphyrins build up in the body, Inherited genes, A range of triggers (Common triggers include: Prescription drugs such as barbiturates, tranquillisers, sedatives, oral contraceptives and some types of antibiotics Female sex hormones, Sunlight, Alcohol, Cigarette smoking, Infection, Surgery, Fasting), Common complications, Diagnosis, Treatment - acute porphyria, Treatment - cutaneous porphyria, Self-care options, Where to get help, Things to remember: 1. Porphyria is the umbrella term for a group of rare disorders that involve a particular molecule called ‘heme’ or ‘haem’. 2. Porphyria can affect the skin, nervous system, gastrointestinal system or all of these, depending on the specific type. 3. There is no cure, but medical treatment and lifestyle changes can usually manage the symptoms.
● Porphyrias. YouTube video, 12:06 min. Published 1 Oct. 2011. Dr Tony Talebi discusses the Porphyrias chapter of "Hematology and Transfusion Medicine Board Review Made Simple."
● A Doctor suffers from AIP (Acute Intermittent Porphyria). YouTube video, 6:22 min. Published 31 Mar. 2014 by (American Porphyria Foundation (APF). Physician, Dr Lisa Kehrberg suffers from (AIP) Acute Intermittent Porphyria.
● What is Porphyria?? (The Disease). YouTube video, 5:14 min. Uploaded 29 Dec. 2008. "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. This is, however, not the main problem; most enzymes - even when less functional - have enough residual activity to assist in heme biosynthesis. The largest problem in these deficiencies is the accumulation of porphyrins, the heme precursors, which are toxic to tissue in high concentrations."
● Porphyria Cutanea Tarda Treatment & Management by Maureen B Poh-Fitzpatrick, MD; Chief Editor: Dirk M Elston, MD, from eMedicine Medscape.
● Variegate Porphyria Treatment & Management by Maureen B Poh-Fitzpatrick, MD; Chief Editor: Dirk M Elston, MD, from eMedicine Medscape.