Article printed on page 23 in the October 29-30, 2005 issue of The Mississauga News under the feature: Health & Wellness, Medical Matters.
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.
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 CNN Health. Symptoms, Causes, Complications, Tests and Diagnosis, Treatments and Drugs, Lifestyle and Home Remedies, Prevention.
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."
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."
Porphyria and the Vampire Legend by Doreen Bradley Satter, RN. "Explaining Porphyria: Vampire characteristics are similar to those of porphyrics and this may have led to the misconception in the early 1400-1600's that porphyria sufferers were vampires . . . Porphyria comes from the Greek word meaning purple."
How Vampires Work from HowStuffWorks. "One of the most interesting 'vampire diseases' is porphyria . . . 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."
Porphyria: A Patient's Guide. Drug lists, diagnosis, management and therapy, by Professor Michael R. Moore at the Porphyria Research Unit, University of Queensland, Australia.
National Porphyria Day: June 1st. The Canadian Porphyria Foundation (CPF) National Board of Directors have declared June 1st “National Porphyria Day”. Declaring a National Porphyria Day means people all across Canada will celebrate annually the mission of the CPF; ". . . to improve the quality of life for those people affected by porphyria.”
A Guide to Porphyria by Barry A. Tobe, MD, Ph.D, FRCP(C), Prepared for the Canadian Association for Porphyria. Introduction, Causes & Types, Affects & Symptoms, Diagnosis & Treatment, Surgery & The Future, Types of Porphyria, Heme Pathway, Safe & Unsafe Drugs.
A Guide to Diet & Porphyria by Brenda L. Kuzyk, B.Sc., RD, Prepared for the Canadian Association for Porphyria. Diet & Carbohydrates, Carbohydrates Chart.
A Guide to Porphyria by Barry A. Tobe, MD, Ph.D, FRCP(C), Canadian Porphyria Foundation. Contents: Introduction, Causes & Types, Affects & Symptoms, Diagnosis & Treatment, Surgery & The Future, Types of Porphyria, Heme Pathway, Safe & Unsafe Drugs, A Guide to Diet.
Porphyria by Dr Trisha Macnair. Article medically reviewed by Dr Rob Hicks. From BBC.co.uk Health - Conditions.
Porphyria: A Patient's Guide. Acute Porphyria, Drug lists, Diagnosis, Management & Therapy, Prevention, Testing, by Michael R. Moore, Department of Medicine, University of Queensland, Australia.
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.
