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9 Replies
Cher0208 - March 27

Hi all,

So the numbness spread to my whole body. I feel desensitized. It's so annoying, scary, uncomfortable. Went to my GM who decided to recheck my thyroid and decided just as she was walking out that she was going to test me for Porphyria. She said "Now don't go googling it, let's just wait for the results." LoL. I didn't even make out the name so I didn't research it and I was sure I didn't have whatever she said anyway. Well results came back abnormal and now i have to go to the lab for special blood work and a do a 24 hour urine test at home. So long story not so short. Anyone have this or know about it? I'm scared and my anxiety is through the roof again.



January - March 27

Hi Cher - It sounds like you have a great doctor! Lucky you. All of us suffer from symptoms that are called "weird" but before we can be adequately treated, we need a proper diagnosis. And sometimes we have several weird diseases! Porphyria is supposedly somewhat rare, so it's amazing that she thought to test you for it! I'm sure by now you've googled it - there are different forms. Thanks for sharing the info so we can read up on it. Some of the symptoms overlap with fibro symptoms.

I also googled "porphyria and gluten" and found a few people on the forums there who have it. Yes, it looks like porphyria HAS been linked with celiac in some people. (I can hear Noca laughing….)

There was a very good post 4th down on the 1st google page, with readable information, under

Strange site and graphics - but very good information explaining porphyria. (Anyone being treated for depression with a psychotropic drug might like to know that it can set off porphyria which can be VERY painful!)

Whatever it is, Cher - getting a diagnosis is the first step towards treatment. Wishing you the best of luck with it. I wish I had a doctor as thorough as yours! Deep breaths!


fibromite.u.k. - March 27

I think porphyria is a disease that the British Royal family have occasionally had. I know that George III suffered from it and there have been suggestions that Prince William of Gloucester (who died in 1972) also had it. I think that in some cases it can turn the blood blue. I think it is very very rare.


January - March 28

Hi Cher - I dragged out my Merck Manual for med professionals - it's 5 years old so not cutting edge. But I learned some things. Porphyria occurrence = 1/10,000, supposedly. (I think these "rare" numbers are often cited because diseases go undiagnosed, so it may be more common.)

Google "heme" for some information on protein molecules (like hemoglobin) which have iron included. There is one article under (no w's) themedicalbiochemistrypage(dot)org which looks good, if you know some chemistry. I am NOT a doctor, and it's been long time since I was in class, but here goes...

There are 8 different enzymes involved in the synthesis of heme, and they produce and transform molecules called porphyrins; there are 7 types of porphyria, tied to 7 enzymes (problems with the 8th enzyme causes sideroblastic anemia). Urine screening is the best test to start with. You can then get genetic testing to confirm the diagnosis.

Symptoms can range from mild to severe and can wax and wane.

One type of porphyria (cutaneous), the result of 2 possible malfunctioning enzymes, mainly affects the skin (fragile skin and blistering, sun sensitivity). This tends to be chronic.

The second type of porphyria (acute), caused by a problem in one of the other 5 enzymes, is called neurovisceral, and can be set off by any number of drugs, physical or emotional stress, alcohol, hormonal changes or low-carb or fasting diets. Here is what the Merck Manual says - signs and symptoms: "…involve the nervous system, abdomen OR both…. Attacks develop over hours or days and last up to several weeks. Some gene carriers experience few attacks in their lifetime. Others experience recurrent symptoms. In women, attacks often coincide with phases of the menstrual cycle."

Also, From the Merck Manual of Diagnosis and Therapy, 18th Ed., 2006, pp.1227-1228, The caps are my added emphasis for fibro patients to note!

"The acute porphyric attack: Constipation, fatigue, irritability, and insomnia typically precede an acute attack. The most common symptoms with the attack are abdominal pain and vomiting. The pain may be excruciating and is disproportionate to abdominal tenderness. Abdominal manifestations may result from effects of visceral nerves or from local vasoconstrictive ischemia…there is no inflammation…Temperature and WBC count are normal or slightly increased. Bowel distention may develop…. The urine is red or reddish brown and positive for PBG during an attack.


"CNS INVOLVEMENT MAY PRODUCE SEIZURES OR MENTAL DISTURBANCES (EG., APATHY, DEPRESSION, AGITATION, FRANK PSYCHOSIS, HALLUCINATIONS)…. [some of these may be due to low sodium or magnesium] which can also contribute to arrhythmias [or heart palpitations].


I found this very interesting, as when I became severely ill during the last decade, I repeatedly experienced some of these symptoms, including the reddish urine (which is diagnostic during an attack!). I was at the time undergoing surgeries and therapy with an antibiotic that is listed as UNSAFE for people with porphyria.

Analgesics which are listed in the Merck as UNSAFE in porphyria are: dextropropoxyphene, propoxyphene, diclofenac, meprobamate. Unsafe Anesthetics are lidocaine and certain barbiturates. A number of antibiotics (chloramphenicol, clindamycin, erythromycin, ketoconazole, sulfonamides, and others) are included on the list, as well as ergot for migraines, the hormones Danazol and progesterone, and muscle relaxants Carisoprodol and orphenadrine.

Here's the information about reddish urine which is interesting:

"Reddish or reddish-brown urine, not present before onset of symptoms, is a cardinal sign and is present during full-blown attacks. A urine specimen should be examined in patients with abdominal pain of unknown cause, especially if severe constipation, vomiting, tachycardia, muscle weakness, bulbar involvement or mental symptoms occur." (Ibid. p.1228)

(I would think that you could check this at home by peeing in a clear jar and keeping it around for a day or two to see if a reddish ring develops on the glass… just a wild guess, not a medical opinion!)

Urine should be tested for PBG, and if positive, a quantitative test for PBG and ALA. If PBG and ALA are normal, another diagnosis is considered. However, "Elevated ALA with normal or slightly increased PBG suggests lead poisoning or ALAD-deficiency porphyria. Analysis of a 24-h urine specimen is not useful. Instead a random urine specimen is used, PBG and ALA concentrations being corrected for dilution by relating to the creatinine concentration of the sample. Electrolytes and [Magnesium] should be measured. [Low sodium] may be present from excessive vomiting or diarrhea with hypotonic fluid replacement or from the syndrome of inappropriate ADH secretion (SIADH)." (ibid. p.1228)

Thank you for sharing your info Cher! I have learned something today. SIADH is another avenue for me to study up on, as I suspect I had a problem with this myself. (And I TOLD them so!) ADH is anti-diuretic hormone - if your body isn't producing ADH, you can drink liters of water, but your body cannot retain fluids, they go right through you - and you get severely dehydrated.

I became so extremely ill from "medical treatments" that I have PTSD and cannot even consider minor surgery or antibiotic use in the future. No doctor took my opinions seriously, and no one has ever been able to explain what was so wrong with me for close to a decade. I healed myself, somewhat, and now avoid "medical treatment" as much as possible.

I apologize for this long post, but I'm sure there is SOMEONE out there with porphyria (maybe NOT you or I!) who is not being diagnosed correctly, so I hope this can help someone else out! For fibro patients who see themselves in this information, it wouldn't hurt to ask for a simple urine test to check your PBG levels!

Best of luck with the testing Cher. Don't think you need to be scared. This can be managed if you have it. Hang in there!


Cher0208 - March 29


Thank you so much for posting that!!! I am truly grateful to you for providing so much information. Of course, I did a lot of research and was not really understanding what I read. But I have a much clearer view from what you posted. I cannot tell you what you it means to me to have the support that is here on this forum.

I'm sure there are a lot of people that have this and have no idea. I hope that anyone with these symptoms goes to get checked out. Even though I was scared a few days ago, today I just feel ready to finally have an answer for all this. An answer and hopefully a solution. I completed my 24 hour urine and brought it to the lab today and they did a "special" blood test. Last summer, my urine turned very dark brown. I went to this same doctor and cried. I wound up going to see a Nephrologist. At that time there was protein and bacteria in my urine. They also told me I was dehydrated even though I drink water all day long! Nothing ever came from it and eventually my urine seemed to lighten up. As of the past few days, I have had constipation, fatigue, irritability, and insomnia.

Another interesting note: About 4 years ago I woke up one night with pain in my stomach like nothing I had ever experienced. I barely made it to the bathroom. I felt like I was going to vomit and have the runs. None of which ever happened. I felt like I was losing consciousness from the pain and I saw the blood drain from my face when I looked in the mirror. I laid on the bathroom floor and screamed for my boyfriend. At the time I was around 22 yrs old and smoked pot frequently. He woke up and I don't know what made him think of it but he had me smoke and immediately I had major relief. That was the first of many, many attacks to occur over the next two years. I had every test done by the Gastroenterologist. I was diagnosed with chronic gastritis and given prevacid which I did not take. Whenever it happened, I smoked and that was the only thing that relieved me. I thought maybe this was really bad gas. It should also be known that at this time I had no symptoms of fibro except maybe that I was tired all the time. Once I stopped eating meat it seemed to completely stop. I have not had that type of attack in a long time. Looks like this is all related.


Thanks, again January. I will definitely let you all know what the results are. Keep me in your prayers as you are all in mine.


January - March 29

So glad you saw the post Cher - and it sure seems to line up. Please let us know what else you learn! I am so glad you mentioned porphyria, as it got me researching it and I learned a lot too! Interesting, as just in the last couple years, I've had episodes of very severe stomach pain (not abdominal) that woke me up at night - incredibly bad pain, radiating to the back. I don't know what caused it. I treated it with Pepto-Bismol, yogurt and organic honey and a capsule of flaxseed oil - which stops the pain in 10-15 minutes.

The dr. prescribed a daily dose of proton-pump inhibitor (bad for your bones) - I never took it.

Ohh, that ole monster devil pot! A great herbal drug used in many cultures for many centuries - used to heal gastric disturbances and alleviate pain, among many other things. Criminalized for what reason?

If you test positive, that dr. of yours needs a big bouquet for being on top of her game! Glad you have calmed down. I'm sure this can be managed, IF you have it.


January - March 31

Cher - I hope you read this post. Don't know if you've gotten any final diagnosis, but I read a little extra and here's what I learned!

As this is a disorder of heme - too much iron can set it off -- so no iron supplements, or eating food with iron like red meat! (Didn't you say you felt better off meat? And so have I.)

I also read that estrogen and progesterone can set off attacks - which explains why I used to have short episodes of what I think might have been porphyria attacks when I was younger - and why I could not tolerate birth control pills or HRT - nausea and migraines to die for! I was treated with Cafergot for migraines which made me so sick I seriously thought I would die (and the ergot drugs are UNSAFE for porphyria).

Also lidocaine is bad, and I've been using that for years. If anyone wishes, I can post the entire list of antibiotics from the Merck Manual that are deemed UNSAFE. Some are rather commonly used, like Erythromycin and Clindamycin.

Interesting, that treatment for porphyria includes glucose and high carbohydrate meals. My gluten-free diet probably falls in this category!

Some interesting overlaps. So glad I learned about this from you!


Cher0208 - April 4

Hi January,

Here is my update:
All tests from Neurologist including MRI of the brain and spine came back normal. I mentioned that I did a 24 hour urine and special blood test for Porphyria and she said it all came back negative. Now she wants to test me for iron and led. Can you believe that I am seriously disappointed? I know it sounds sick but I thought I was very close to having an answer for all this. I have to speak to her tomorrow and bring up the fact that Porphyria has to be tested for at the onset of an attack. So why is she so ready to move on?? When I called earlier today for results her nurse told me that she had to look up on the computer something that was on my test results. She doesn't know too much about this.

*big sigh*

What do you think? I will go get tested for iron and led but I feel at a loss now. Guess I have to do more research and see if she will test me again when I suspect I am beginning to have an attack.


January - April 5

Hi Cher - Almost NOBODY knows much about porphyria! It's complicated and "rare." But I would keep at it until you are sure. Google "porphyria awareness" - it will get you to a wonderful site, the American Porphyria Foundation. I called them today and they were amazing! They will send a packet of detailed medical information to your MD - but only one packet to one MD because it is expensive.

I also got a call back from the Director of the Foundation (how NICE was that!!) She told me it is VERY hard to diagnose, especially when you aren't suffering an attack - and that there are exactly EIGHT (8) "experts" in the entire US. She has a list of them. One is in Texas, one in Charlotte, NC, etc. Maybe there is someone near you - or someone who will work in close consultation with your doctor. Some of them will do that.

Proper diagnosis includes testing of urine, blood and stool. Also, there is a DNA test. She warned me that you have to be careful with most laboratories - test results are often incorrect because labs can leave samples sitting around in bad conditions and they degrade before the testing is complete, or they aren't done properly because they don't know about porphyria! She recommended getting tests drawn at Quest Labs, then packing the biological material yourself, in dry ice, and shipping it to the Quest Lab in California. I hope I am remembering this all correctly - you can call them for specific information. The phone numbers are on the website, and they were very helpful people.

I am going to do some more checking. There are different types of porphyria - and some of the symptoms really line up with fibromyalgia symptoms. There's info on the website; in fact April 17-24 is Porphyria Awareness Week! Maybe it's not so rare, maybe just complicated and nobody knows about it, and so people don't get diagnosed (where have we heard that before?) The type you (and I?) may have is called Acute Intermittent Porphyria. So, it comes and goes. If you have it, you can become very seriously ill, especially if nobody knows what is wrong with you or what to do! The good news is there are treatments! And now you know to ask for testing!

Hopefully, people will get educated about asking for a PBG urinalysis if they are in serious pain, and they have reddish-brown pigment in the urine! Or if they become ill while taking the drugs listed under "porphyrogenic drugs." etc.

Glad to hear the MRI was clear for you. Of course, that says nothing about your biochemistry! It sounds like you have a good doctor - the fact that she even thought to test you for porphyria is impressive. And yeah, I get it about being frustrated that you don't have a clear diagnosis yet. Hang in there. I'm looking forward to learning more about this very complicated disease - and I'm going to mention it to my doctors and try to educate them about it a little, if they'll listen! It is up to us! Testing for iron and lead sounds reasonable. Iron is linked to porphyria, and I think lead poisoning symptoms can have some overlap. If you have to undergo chelation, be aware that you need to supplement with minerals, as chelation pulls all the minerals out of your body, including the good ones. Good luck with it!

Got a really busy month, so may have to wait a while on following up on this myself -- but I'm so grateful to have a clue about porphyria -- thanks to you, Cher! I'm sure somebody else will read this post and be helped!


January - April 5

PS. The material I read today states that lidocaine is OK to use in porphyria so I don't know which is correct….



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