HWN Suggests

What Would a Porphyric Do?

I’ve been getting a lot of messages and emails lately from people who are new to the world of porph, or who are waiting for a diagnosis. It’s driving me nuts. Not that I’m getting contacted,  (AT ALL! Keep ’em coming!) but that so many people have one of the same two stories: 1. They’ve been diagnosed, and now are facing a world of doctors with no information for them, or B. They’ve done their research, their symptoms match up, and they’re desperately seeking a medical professional to believe them and test them PROPERLY, so that they can get a diagnosis.

I have to say, I’m pretty darn lucky that my story went the way it did. I only spent 4 agonizing hospitalized days before I was…

read full article

Featured

 Born to the Purple: the Story of Porphyria

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.

Articles of Interest

Birth Family History: Sometimes You Get It, Sometimes You Don’t

After decades of misdiagnosis, including Polycystic Ovarian Disease, Endometriosis, Crohn’s Disease and depression, a 24-hour urine sample revealed Coproporphyria (one of the many porphyrias), a rare genetic blood disorder that 50% of ER physicians have never heard of.

Doctors Examine Vincent Van Gogh

Mr. Naifeh says that some doctors cherry-picked the artist’s symptoms to suit their own specialties. He cites some diagnoses, made over the decades, that he considers unlikely. One is acute intermittent porphyria, a metabolic disorder that can cause delirium and may have caused British King George III’s bouts of insanity.

From An Enlightenment King To Enlightened Princes: Mental illness And The Royal Family

So why did the theory of porphyria gain such traction over the years? MacAlpine and Hunter were disillusioned. They were fed up with psycho analysis, and instead believed that most mental disorders were caused by either known (such as porphyria) or as yet unknown organic physical conditions. Diagnosing an organic metabolic disorder in one of the most famous “madmen” in history would be a wake up call to modern psychiatry, and also remove the stigma or taint of mental illness from the Royal Family.

My Porphyria Story

My mother had struggled for several years after I was born to get doctors to talk to her about porphyria, but their lack of knowledge of this rare disorder and unconcern led her to reluctantly drop it. And that side of my family never talked about porphyria or the possibility that I could have inherited it.

New Light on Medicine

Pigments that turn caustic on exposure to light can fight cancer, blindness and heart disease. Their lightinduced toxicity may also help explain the origin of vampire tales.

Nutrients and Porphyria: An Intriguing Crosstalk

Porphyria is a group of hereditary metabolic defects in heme biosynthesis that involves eight functionally interlocked enzymes required for the conversion of glycine and succinyl-coenzyme A to heme. Heme is required for a variety of hemoproteins that are synthesized in response to metabolic needs. The hemoglobin synthesis in erythroid precursor cells accounts for about 85% of the daily heme synthesis in humans.

Perplexing Pain

“Has anyone ever mentioned the word porphyria to you?” he asked. She’d never heard of it. He wasn’t certain that’s what she had; he hadn’t examined her or reviewed her medical records, but the involvement of both types of nerves suggested this rare disease, and he thought she should discuss the possibility with her doctors.

Porphyria the Real Life Vampire Disease

When we think of vampire folklore we tend to be reminded of several qualities that signify that someone or something is a vampire. Aside from biting, vampires are also known for avoiding sunlight, hating garlic, and having long sharp fangs. However, did you know that there is a real-life disease that can explain some of these unnatural symptoms? Sometimes known as the vampire disease, Porphyria, is a blood condition that sparked some of the key characteristics of vampires.

Porphyria: the facts behind the so-called vampire disease

It is possible that a rare inherited blood disorder, called porphyria, gave rise to the myth of vampires and in turn, porphyria has the nickname the vampire disease. Porphyria is actually a group of disorders some of which cause skin blisters and other cutaneous symptoms when skin is exposed to sunlight; it is this fact that is often used to connect porphyria and vampires.

Porphyrins: One Ring in the Colors of Life

It should come as no surprise then, that when the porphyrin pathway is disrupted, there can be remarkably far-reaching consequences. Derangements of porphyrin metabolism may have left their marks on the legacy of King George III and the founding of the United States, and on the legend of Dracula. Disruption of porphyrin metabolism can also be useful—for example, in the development of herbicides.

The wolf man

First his face started getting hairy. Then he became allergic to the sun. What on earth was happening? Ed Walker on contracting porphyria. There are many forms of porphyria, some congenital and some acquired in adult life. Mine - porphyria cutanea tarda, or PCT - is one of the milder, acquired types. The porphyrins are a family of molecules produced from red blood cells gone past their use-by date. The red pigment, haemoglobin, is metabolised in the liver and normally ends up as yellow or brown pigment, giving urine and faeces their characteristic colours. But if for whatever reason the liver cannot complete this reaction, levels of intermediate byproducts including porphyrins accumulate in the body.

What are the porphyrias?

The porphyrias are a group of metabolic conditions which can be either genetic or acquired. The porphyrin pathway is involved in haem synthesis. Haem is the red pigment in haemoglobin in blood cells and carries oxygen in the blood. A deficiency or block of one of the enzymes in the porphyrin pathway results in a build-up of the corresponding precursor protein or intermediate molecule. The porphyrias can be broadly classified as acute or cutaneous.

Resources

International Porphyria Network

An international network of experts working together to improve healthcare services for porphyria patients.

Porphyria Sucks

This is an OPEN Group. That means anyone can see what you post. This is so others can read and understand the truth about Porphyria.

Porphyria's Hater

Occupying Porphyria one post at a time.

Porphyria.com (Acute Hepatic Porphyria)

The good news is that there is support available and there are ways to test for AHP. This website provides education, resources, and information on the signs and symptoms of AHP, living with AHP, tests to help diagnose AHP, so you can start a conversation with your doctor and get answers.

The Adventures of Sabrina: Porphyria and All

A whole entire blog about my swell disease.

United Porphyrias Association

We are committed to improving the quality of life of the porphyria community and focused on advancing disease awareness, research, and therapies for all the porphyrias.

American Porphyria Foundation

The APF is dedicated to improving the health and well-being of individuals and families affected by Porphyria.

British Porphyria Association

Our primary aim is to support and educate patients, relatives and medical professionals about the porphyrias, so as to improve the lives of those living with the effects of the conditions. Additionally, we aim to promote research into this group of rare conditions.

Caities Porphyria

This blog is all about Caitie and what she and her family go through each and every day...

Canadian Association for Porphyria

Raising awareness of porphyria and its impacts using social media, patient stories and outreach to medical professionals.

My Porphyria Blog

I have a rare blood disorder called Acute Intermittent Porphyria. It's one out of a group of eight porphyrias. Aip is an inborn error of metabolism. Basically, my body has a problem making heme, which is essential to bind oxygen and iron to blood cells. It causes, simultaneously, anemia and iron toxemia; also porphyrin presursors can build up in your blood to a toxic level

Porphyria South Africa

The Professionals section contains the same information in more technical terms, as well as a lot of additional information about specific areas of porphyria. Lay people will want to browse through these pages to find more detailed information once they have used the For patients pages to gain an understanding of the underlying concepts and the terminology.

Porphyria: A Royal Pain in my Ass

We now know that there are at least eight types of porphyria, and that the clinical manifestation of each type is not the same. A common feature of all porphyrias is the accumulation in the body of "porphyrins" or "porphyrin precursors." These are normal body chemicals, but they do not normally accumulate. Each type of porphyria is determined by deficiency of a different enzyme.