Porphyria: The Elusive Diagnosis

Do you or a loved one experience any of the following symptoms that do not respond to standard treatments? Blistered skin. Severe gastrointestinal/liver/kidney/uterine pain. Nausea, vomiting, and diarrhea. Numbness and/or tingling. High blood pressure. Depression and personality changes. Seizures and paralysis.

If you have any of these symptoms, then you need to be aware of a rare, hard-to-diagnose condition called porphyria. Porphyria is a group of primarily inherited disorders with symptoms that can be triggered by sunlight, food, pollutants in the air, medications, hormones, infections, alcohol, fasting, and other things. What is actually happening to you is the overproduction and accumulation of porphyrins by your body due to a lack of controlling enzymes that are involved in the production of red blood cells. High levels of porphyrins commonly cause skin problems, abdominal pain, and/or neurological complications. Because the symptoms of porphyria mimic many other disorders and interpretation of the testing can be complex, this condition can be very difficult to diagnose. And because many medical personnel are not even aware of its existence in the world, testing for porphyria is not generally considered. If you suspect that you might have the condition, be sure to speak to your health care practitioner about it.

My personal story demonstrates how the lack of an accurate diagnosis can have devastating consequences, including decades of pain and mistreatment by family, friends, and health professionals. Please see my life as an example of why you should become aware of the clues. After you’ve read my story, if you know anyone you think may be suffering from porphyria, encourage them to become knowledgeable about the causes and treatment and to locate appropriate medical support.

My symptoms began as soon as I was born. I had abdominal pain, vomiting and diarrhea after eating. My skin blistered when exposed to sunlight. Doctors told my parents (a Lithuanian mother and an Italian father) that I might have a “microscopic bug” eating my skin. They speculated that I might be suffering some sort of adrenalin disorder.

After my mother stopped breast feeding me when I was ten months old, my abdominal pain, vomiting, and diarrhea continued, but not after every meal. My skin blistering became limited to just the backs of my hands and my legs. Those who understand porphyria might explain that my mother’s cooking, which was meant to please my father, was heavy in tomatoes. The tomatoes triggered porphyria symptoms in her, and she shared both tomatoes and symptoms with me through her breast milk. Once I was eating on my own, however, symptoms varied according to whether or not I ate tomatoes, grapes, vinegar dressing, the meat of animals fed on corn (also their milk products), or farm-raised seafood. Food containing sulfites/sulfur, even those grown organically, can also be dangerous for a person with porphyria. We should, for example, avoid bananas.

When I was a young child and teenager, the skin on my fingers was always blistered, oozing, and infected. Treatments included soaking my hands in boric acid, potassium permanganate, and other solutions or dressing them with lanolin, cortisone, and other salves. The doctors also exposed my skin to low-level radiation.

But the condition was stronger than the treatments. By the time I was a young adult, I was being prescribed beta blockers and tranquilizers. I was wearing rubber or plastic gloves when preparing food for my family. Neither the gloves nor copious bandaging, however, relieved the disfiguration of my fingers.

The severe abdominal pain also continued. When I was a young bride, I was frequently taken to emergency rooms because of the overwhelming abdominal pain. But the doctors who cared for me knew little or nothing about porphyria. They admitted me to the hospital, where for three days I was put on a nutritional IV, which was basically a ten liter bag of sugar water, and the abdominal pain went away! The doctors then told my husband that my complaints were only an attempt to gain extra attention, and so my loving, well-intentioned husband began to resist taking me to medical care facilities. This went on for many years.

With each of my five pregnancies, however, the symptoms disappeared, only to return when each child was weaned. Those who understand porphyria will explain that hormonal changes during pregnancy and nursing include the production of a hormone that helps women gestate and lactate. For me, evidently, this hormone diminished the production of porphyrins.

When I reached my early thirties, I was diagnosed as diabetic and put on diabetes medication. But the prescribed drug triggered my body to make huge amounts of porphyrins. The porphyrins attacked my brain. I developed symptoms of paranoid-schizophrenia. I was so depressed I tried to commit suicide. Soon a psychiatrist diagnosed me as insane and the court committed me to a locked mental facility. This was actually helpful, as the facility staff did additional testing and determined that I was not diabetic. Two weeks after they took me off the diabetes medication, it was out of my system. My depression went away and my personality returned to its cheerful normal state. I now understand that this diabetes medication was later removed from the market because it caused severe depression.

Nevertheless, I continued to suffer. Through the years I heard innumerable theories that tried to explain my symptoms. I was miserable, and no one really had a clue. Attempts to find out what was going on included upper and lower GI’s, sigmoidoscopies, colonoscopies, waking and sleeping EEGs, two MRI’s, one CAT scan, tranquilizers, various digestive aid products, and avoidance of all cow’s milk products. I was told I had a “depressed frontal lobe.” “An overactive adrenaline system.” “Thyroid malfunction.” What did the most honest doctor tell me? “I haven””t the faintest idea what is causing your depression.”

After I finished menopause in my mid-fifties, my blistered skin healed completely and my emotional symptoms all but disappeared. But then I developed a new symptom. It felt like an adrenalin rush to the brain that only lasted a few moments, but left me unhappy, uncomfortable, severely fatigued, and barely able to focus and think clearly.

But the other physical symptoms had never gone away. I was still experiencing abdominal pain, vomiting, and diarrhea after eating. My most dramatic dietary reaction happened when I was in my early sixties. I was away from home at a conference, and because I didn’t know any better, I ate and drank what was served. Everything on the menu was full of sulfites. Sulfites boost production of porphyrins. My body’s reaction was a major intestinal spasm that tore my intestines away from my colon. The next thing I knew, I was getting emergency colostomy surgery to repair my separated intestines. Surgeons had to remove several inches from my colon, and I wore the ostomy bag for several weeks while my body healed.

It wasn’t until I turned sixty-five that I reached a turning point after attending a Healing Mass at my church. The next day, as I was enjoying lunch with a friend, I “just happened” to mention my symptoms to her. That evening, my friend repeated my symptoms to her husband, who is a retired New York physician. In his thirty-five years of practice, he had had two cases of porphyria. Later that night, my friend called me and urged me to be tested for porphyria.

I went right to my HMO. The staff said there was “no such condition as porphyria.” When I heard that, I started researching on my own. I read everything about porphyria I could find in books and on line. Then I went back to my HMO with my findings. This time, I did get tested. However, when the test results came back, the doctor reading the results concluded that I did not have the condition.

I was totally mystified. I turned to the author of one of the books on porphyria I had read, and the author referred me to William Morton, M.D., a now-retired Oregon physician. Dr. Morton understands the condition and is currently writing a book that will include information regarding porphyria. After reviewing my test results and realizing that the HMO doctor had misinterpreted them, he promptly sent a letter to my local doctor to educate him and recommend appropriate treatment. The local doctor actually paid attention. He put a diagnosis of porphyria in my file. He also started a treatment program of intravenous dextrose treatments. Experimenting with different frequencies, we found that weekly intravenous dextrose treatments would keep my symptoms in check, as long as I watched my diet and other triggers. The doctor explained to me that the dextrose flushes the porphyrins out of the cells throughout the body.

I am now in my mid-seventies. I am more mentally alert, have more stamina, and am very active in the business world and the community. Now I know that what I have been suffering from all my life is porphyria. Now that my symptoms are under control, I am having a wonderful life.

I have often wondered, why me? As I have learned, this condition is primarily inherited. I looked back in my family for indications and symptoms. It appears that my mother, my maternal grandmother, her sister, my paternal grandfather, and one of my father’s brothers all had porphyria. It looks like I got it from both sides.


Porphyria is not a single disease, but a group of a number of different disorders that can differ considerably from each other. The body’s normal production of porphyrins does not usually accumulate. However, when there is a deficiency of the enzyme that controls this buildup of porphyrins, the condition develops. Which enzyme is missing determines which type of porphyria it is.

The symptoms of porphyria mostly affect the nervous system and/or the skin. When our nervous system is attacked, we experience abdominal pain, vomiting, acute neuropathy, and seizures and mental disturbances, including hallucinations, depression, anxiety, and paranoia. The skin manifestations can include burning, blistering, and scarring of skin exposed to the sun.

To reach an accurate diagnosis of porphyria, testing must include laboratory tests of the patient’s blood, urine, and stool for existence of porphyria in the system. There are so many variables that it is important to locate both a laboratory skilled in performing tests for porphyria and a physician skilled in interpreting the test results. If the patient does have porphyria, it is important to determine exactly which type in order for the correct treatment to be prescribed. Keep in mind that because many labs are not equipped to conduct the testing, there can be false results. It can also happen that the patient’s form of porphyria is not precisely in the lab’s diagnostic repertoire or that the samples do not meet some arbitrary standards for diagnosis.

Once the patient understands which type of porphyria he/she has, it is important, first, to find out what triggers the excessive production of porphyrins and, second, to avoid those triggers. Think of it as having an allergy to something and staying away from that trigger. Porphyria triggers include sunlight, food, pollutants in the air, medications, hormones, infections, alcohol, fasting, etc. In some cases, even Agent Orange has been the culprit.

Treatment options can be a combination of avoiding triggers, removing porphyrins, and/or adding missing enzymes. The most common treatments are intravenous dextrose (to remove the excessive porphyrins) and intravenous hematin (to add a blood product that contains the missing enzymes). Careful diet choices can also be very helpful. High carbohydrate and vegetarian diets work well for many. When eating meat, poultry, or fish, consider what they were fed. Most farm-raised animals have corn in the feeding program, and that corn can trigger porphyria in persons sensitive to sulfites.

If you have porphyria, consider this: you are in exalted company. A bishop of Gaza, Saint Porphyrius, is believed to have suffered from this condition. Many in the British royal family are suspected, particularly “Mad King George.” Ever wondered about those pictures of Napoleon with his hand in his jacket? There is strong DNA evidence that he had porphyria. As my family line traces back to Napoleon, it does make me wonder.


Find accurate information. Although other sources exist, the best source of information in the United States is the American Porphyria Foundation. Check out their web site at www.porphyriafoundation.com or call the APF toll free at 1-866-APF-3635. There are also a number of local support groups, such as the one I started in Orange County, California.

Get involved. Tell others about this condition. Help sufferers discover how to control their symptoms and alleviate their pain and discomfort.

There are many books on porphyria. Three that were particularly helpful to me are:
The Turnstone Bird by Geoffrey Dean, M.D.
Porphyria: The Unknown Disease by Diana Deats-O’Reilly
The Porphyrias by J. Lyndal York, Ph.D.

Locate a healthcare professional who has experience with porphyria. The American Porphyria Foundation web site home page has some essential information about porphyria, types, testing, etc. Near the bottom of the screen click on “document” for a PDF file of their 30-page booklet that includes references to labs and doctors on pages 24-26. You can also contact other people with porphyria and ask if they have located physicians who are able to diagnose and treat porphyria.

Continue in your search until you find what works for you. Be empowered. Stick to your guns!