porphyria symptoms

[justwanttohelp09]

My niece is being tested for porphyria. I have read up on the disorder, but could not find any reference to severe pain after eating. She gets severe pain in her abdomen and extreme burping after eating. Then she goes in and out of a "faint" for 45-60 mins, alternating with panting and belching, and waking up to moan and scream, then slump over again. When she comes to, she is very confused, doesn't know her own mother, where she is., etc. Then she will snap out of it, and cannot remember what she ate. She will giggle about it. Does any of this sound like porphyria? I think some symptoms do, but would love to hear from anyone who has it or takes care of someone with it. Thanks.

[Patti100465]

I started having some of these symptons about 2 years ago. I was put in the hospital. They took out my gallbladder. The symptons did not go away. I have been to the ER so many times they all say we don't know what is wrong with you. I have had CT's, ultra sounds, blood test, colonoscopy and endoscopy many times. NOTHING! I wen to 2 differant ob/gyn's. The last one asked have you ever been tested for Porphyria. He told me to go home look it up on the internet and sent to gastroloist. I told him everything that was going on, He stated in needed to seek thearpy. No one will listen to me. I don't know what to do. I feel like I am going crazy, like you said a brain fog.

[Bethany32]

Yes, that is all common amoung porphyria patients. It is a very hard disease to find, do a dna test to be sure. Several things can happen to mess up pee tests, like if was exposed to light, or was not put on ice. These factors will effect the results and make the results 'look' negative, even if she is positive. All her reactions are one's I suffer from. When in the midst of an attack her personality make change momentarily. Also, children with porphyria are emotionally challenged. An odd effect of a child with Porphyria is their personality change change to flirtatious and they do not realize it, and are more at risk of being molested if not watched properly. A simple way to stop her attacks is cut down on salt, and their is salt in almost everything. Not completely, but salt makes our bodies go into attack. Too much salt her vision will blur, her taste buds will be off, she will have seizures. Too little salt, she will shake. But it is more likely to make too much salt then too little. Then inbetween her regular meals give her a blueberry muffin, or a bowl of raisin bran cereal, apples, oranges, to pump up the amount of carbs in her system. At least 500-700 carbs a day, plus a multivitamin, a low iron pill, a vitamin D pill, a vitamin c pill, and stay out of the sun. This will make her 100% in no time. Attacks happen naturally whenever porphyrins accumulate in the system, but this will help keep them away and stop attacks when they are happening. I hope this helps xo. I have porphyra, and so do both my girls, its so sad to see them suffer.

[Porpher]

Duh - it seems like the NDRF adress/link didn't post earlier, it is simply:
ndrf.org

[Porpher]

I'm moving some questions by justwanttohelp09 from another thread (in the ED forum) here, because it is easier to keep it in one forum and it is more on-topic here:

"When you had symptoms as a teen, how long would you say it lasted?"

They were usually isolated (max 2/week, but usually in clusters), and lasted for just a few hours (2-6). And much less severe than your niece's. Usually they started with pain or nausea after eating something (though not always), then vomiting, diarrhea and fainting. No paresis or altered mental states. The pain would usually go away rather quickly, and from descriptions of porphyria abdo-pain I would say that my pain was much more likely just from air or stuff in my guts.

"I know she did have the 24 hour urine test, so if her episodes are several times a day, would this count for testing during an attack?"

That would be a reasonable assumption.

[Porpher]

Yes, I've looked at most reputable porphyria orgs, including APF. But thank you.

Two negative tests makes porphyria unlikely for your niece I would think - though not impossible (I think I had some simple test as a pre-teen, and then at fifteen - both negative. But I wasn't having serious symptoms then.
Another thing that seems to point to it not being at least AIP or VP (other porphyrias shouldn't cause acute or neuro symptoms?) would be that upping the glucose seems to make no difference.

Genetic testing is probably more difficult when you don't have something known to test against, or a complete panel that shows porphyria (that's how "our gene" was found, I think my mother's battery of tests were definite enough for a dx VP, so they knew where to look - I don't think they'd been found it if they'd searched just based on my grandmother's faulty dx of AIP).

Neurology can be so weird, have you looked at dysautonomy (umbrella term for POTS etc)? The National Dysautonomy Research Foundation has a good website, with some lively forums:

[justwanttohelp09]

Have you tried searching the American Porphyria Foundation ? Maybe there is some info. for you there.  www.porphyriafoundation.com

[justwanttohelp09]

Thanks for your responses. My niece was tested for porphyria twice by 2 different doctors. Once, the test had to be sent out of state for results because we don"t have a place here in our state that does this. The second time she actually went to Cleveland Clinic for the test. All were negative for porphyria. She continues to have symptoms. But, her symptoms keep changing, with the latest being that she will always pass out immediately after eating or during eating, and then speak in this strange voice , like an adult trying to sound like a young child. her arm is somewhat paralyzed during the episode, a newer symptom. After awhile she will snap out of it and seem normal. I don't know how long an attack of porphyria usually lasts, but she has had these episodes several times a day since Dec. She has tried drinking those glucose drinks, eating high carbs, but is still having daily episodes. She cannot be left alone, and her school will not let her attend because when she passes out, she will fall if not led to a chair or couch by someone. Her mother still believes this could be porphyria, and has an appt. with a nephrologist tomorrow. Does anyone know if it could still be possible she has porphyria after 2 negative tests? Or will genetic testing be the only way to know for sure? Thanks.

[Porpher]

I think I already commented on this question in another forum here. I have the gene, and it is starting to look like it is definitely active, even though I've never had what I would consider a severe attack.

Sometimes digestive issues are not considered to be due to porphyria, sometimes they are - there really doesn't seem to be any concensus about porphyria symptoms except for the most severe and un-equivocal. (My personal guess is that once genetic testing becomes more common this will change somewhat. Without a family history I would never even have been tested, and the tests done (not during an attack) back in the mid 80ies were negative. Genetic testing around 2000 was positive.)

Neurological symptoms are really hard to find substantiated descriptions of, except for the most severe, often in combination with classical abdominal pain attacks.

I have the gene (PV), I sometimes feel really lousy for days or weeks and then pee red and start feeling better. I've been brushing off the red pee as probable contamination (skeptic as I tend to be :-)), while keeping in eye on med-lists etc just to be on the safe side (some lists seem waaay too inclusive).

But... there are a few instances of red urine that just in no way can be attributed to menstrual contamination or eating beets or something like that, and have happened when various silly neuro/psych symptoms ("brain fog", depression - but not like "real depression", just the "mentally frozen" part,  various weird feelings of "creepy crawlies") started to abate.
And consciously trying to eat stupid amounts of sugary stuff when feeling "crappy" does seem to help.

Anyone have any experience, anecdata or links, concerning this type of mild(?) intermittent neurological symptoms in people with confirmed porphyria, NOT directly related to classical attacks?

[DrNoopurMD]

Hi,

Porphyria can result in symptoms that you have described for your niece. It can cause severe abdominal pain, seizures, and mental disturbance. From your post it does seem that your niece is getting seizures due to porphyria. These effects occur because porphyria affects the nervous system.

http://en.wikipedia.org/wiki/Porphyria

Thanks

[arachnaphob]

When I was in hospital once, the girl in the next bed did things that sound similar to your niece.  She had confirmed porphyria.  She had to be kept in the dark to help with the pain and abdo problems. I'm afraid that is as much as I know.