National Porphyria Awareness Week

If you watch House (for some reason the writers of that show love porphyria) or if you’ve ever seen The Madness of Kind George, you’ll be familiar with the rare medical condition known as porphyria. But you’d be amazed by how many doctors in this country don’t know about it, or have only the fuzziest idea what it involves or how to deal with it. And that’s a problem, because a leading cause of death among porphyria carriers is doctors and the drugs they prescribe.

March 28-April 4 is National Porphyria Awareness Week, which attempts to raise awareness of porphyria among both the medical community and the population at large. Basically, porphyria is a metabolic disorder, usually hereditary, that interferes in the production of heme. Heme is best known for its presence in hemoglobin, but it’s also a necessary component in other things beside blood and the delivery of oxygen. There are actually eight different forms of porphyria, which differ from each other in significant ways. They’re all called “porphyria” because when certain enzymes involved in the production of heme don’t do their job, the precursors of heme—known as porphyrins—build up in the body. Although porphyrins are normally present in small amounts, when they build up they can cause big problems—the biggest of all being death.

Porphyria is challenging not only because it is deadly and rare, but because its symptoms are so elusive. It is possible for a person to live their entire life with porphyria and never know it. Then, out of the blue, something can happen to provoke a porphyria attack. What does a porphyria attack look like? Depending on the type of porphyria, it can include severe abdominal distress (think the worst kind of stomach flu), a skin rash that results from exposure to the sun, weakness, faintness, peripheral neuropathy, mental confusion, hallucinations, coma, and death.

What can provoke an attack? A low protein diet or fasting. Hormonal fluctuations (menstruation or pregnancy). A viral or bacterial infection. Stress. Chemical exposure (“chemicals” including everything from pesticides to over the counter drugs to chemotherapy).

Thanks to the madness of good ole King George, having porphyria is sometimes seen as something of a stigma. But the truth is, porphyria didn’t make George III crazy; what drove him mad was the arsenic his doctors gave him to treat his porphyria (clever guys, they were treating his attacks with a substance that just gave him more attacks; the man must have had the constitution of an ox to survive with even half his marbles). Yes, having a bad porphyria attack can make porphyria sufferers a little fuzzy for a week or so, but we—usually—come back.

And yes, I said we. I discovered I suffer from porphyria when doing the research for my first Sebastian book. Curious to know more about the disorder that affected the Hanovers, I Googled porphyria and found myself reading a list of the seemingly disparate symptoms that had plagued me since adolescence. This is an example of serendipity at its most precious, since the discovery helped me save the life of one of my daughters when she suffered a horrendous attack after Katrina and the area’s emergency rooms were unimaginable, indescribable nightmares.

So here’s to raising national awareness of porphyria. You can read more about porphyria, and what can be done to help increase awareness of this problem here.

Check it out. You or someone you love might have this condition and not know it.

The Prince Regent's Deadly Secret

(Above: the Prince Regent, photo from Wiki Commons)

I’m reading PURPLE SECRET: Genes, ‘Madness’ and the Royal Houses of Europe, by John Rohl, Martin Warren, and David Hunt (London: Bantam Press, 1998). The purple secret is, of course, the metabolic disorder porphyria, which entered the royal house of Britain (and therefore the rest of Europe) though Mary Queen of Scots.

The “Mad” King George III has unarguably done more to popularize porphyria than anyone else. Unfortunately, his well-known identification with “madness” has led the disorder to be associated in the popular mind with insanity. In fact, a porphyria attack can cause depression, anxiety, and confusion (because it interferes with the serotonin pathways). But full-blown mental illness caused by porphyria is rare and typically associated with some other, simultaneously occurring condition.

Porphyria is a genetic disorder affecting the enzymes responsible for the synthesis of porphyrins into heme. There are various types of porphyria, depending upon which enzyme in the pathway is affected. Some types of porphyria are associated with abdominal pain (acute porphyria), others can cause the skin to develop a weeping rash when exposed to the sun (cutaneous porphyria). George III undoubtedly suffered from variegate porphyria, which causes both. Symptoms of acute porphyria include attacks of severe abdominal pain and peripheral neuropathy, which basically means it effects the body’s non-conscious functions such as the heart, lungs, etc, causing general muscle weakness, numbness, difficulty breathing, and an increased heart rate. In other words, it’s like being hit with the worse case of flu or food poisoning you can imagine. Porphyria attacks can be triggered by exposure to chemicals (including heavy metals, alcohol, and many pharmaceuticals), female hormones (either during a woman’s regular cycle or pregnancy), fasting or high protein/low carbohydrate intake (i.e., Atkins or South Beach diets), fever and viral infections, or stress. An attack sometimes—but not always—causes the urine to take on a reddish tinge as the body attempts to throw off the accumulating porphyrins (which are toxic in large quantities); hence the “purple” secret.

George III’s five bouts of “madness” are notorious, but less well known are the life-long sufferings of most of his 13 children, including the Prince Regent himself. The authors use the royal family’s personal letters and doctors’ reports to detail the long illnesses of the princes and princesses. It makes for scary reading (the treatments often being scarier than the symptoms they were used to treat). In fact, the illnesses of George III’s children were of such long duration—sometimes lasting years—and so extreme that I personally think something else was going on there in addition to the porphyria.

As for George III, recent chemical analysis of his hair has shown that the poor man was suffering from arsenic poisoning. A 2005 article published in the British medical journal LANCET (written by Martin Warren, one of the authors of this book) reported the presence of arsenic at over 300 times the toxic level in George III’s hair. At the time, arsenic was used in both skin creams and wig powders, but even that couldn’t account for George III’s high levels. It seems that the King’s doctors were treating his porphyria attacks by giving him something called “James’ Powders,” which was made from antimony containing significant traces of arsenic. Like a good king, he took what his doctors ordered, several times a day. Ironically, arsenic is one of the triggers for a porphyria attack. In other words, they were treating his porphyria attacks with a substance that causes porphyria attacks, in addition to being toxic itself. Another common remedy of the time, mercury (“calomel”) also causes porphyria attacks (which is why anyone with porphyria should avoid modern vaccines containing traces of mercury and get rid of their mercury fillings, if possible).

The royal houses of Europe obviously decided long ago to close ranks on the subject of the “family” malady. The authors (a combination of historians and microbiologists) were repeatedly refused access to papers and medical samples. But they have easily traced the symptoms of the disorder down through Queen Victoria, to her children and grandchildren, all the way to Princess Margaret. Only Prince William of Gloucester (a grandson of George V) made no secret of his diagnosis of porphyria, which manifested itself after he took chloroquine to prevent malaria in Africa.

Unfolding like a detective story, the book makes fascinating reading, even if you don’t suffer from porphyria. The royal families’ secrecy on this subject is unfortunate, since they could help to publicize the truth about a disorder that has become associated in the popular mind with madness, werewolves and vampires. The disorder is actually far more common than was previously thought. Unfortunately, most American doctors are woefully unfamiliar with porphyria, and most people don’t know they have it until they take something that almost kills them.