Porphyria?

I am at my wit's end with Doctors and havent been to one in six  years until last week. She seemed at least interested in helping me and was very compassionate. I suggested to her maybe porphyria even though its rare, and she is testing for it, but she said you dont need to do the testing during an attack, but everything I read says you do. I am trying to wait until one comes just to be safe.  Immediately after I had my gall badder removed(15 years ago) I got the worst pain I ever had in my upper abdomen going through to my back , nausea, vomiting, profuse sweating.  called the surgeon and he said it was just gas from the surgery. the following week- same thing, called surgeon referred me to family doctor, who put me through a ton of tests-nothing.  I have switched doctors like 5 times have been referred to heart doctors, oncologists, gastro's, general surgeons, etc.  I keep telling people it is somehow related to my gallbladder  surgery, but I dont think anyone wants to hear that.
anyway, along the 15 years that I started having symptoms I have noticed these also.  Every time I am in the sun, I get a lot of little red bumps on my forearms, and forehead, and my nose becomes one big bubble-even with zinc oxide.  also, I find it hard to take any medication for fear that it will bring on an attack-several meds have before. Other triggers Ive identified are alcohol, smoke, not eating,birth control pills, being ill, and some pain meds.   So i pretty much try to stay away from a lot of things and it has helped,but i still get them occasionally.  In addition, within the past 5 years, I have noticed my stomach to the right of my naval is constantly hurting when touched or palpated-it hurts to have my children hug me. When I walk, I constantly have an ache in my ur quadrant.I ave been tested for aneurysms, gerd, h pyloric, heart trouble, pancreatitis,RH,had thee upper gis, an ultrasound,several lab tests and quit going to the doctor after havig a bill of 10,000 and not a clue of anything. Now I have that bill paid, and have insurance, but do not want a bunch of the same routine tests done. Does anyone know about porphyria? I know its rare, but it has been 15 years ive been dealig with this, and am lookig for any kind of help.      Thanks so much

[Soonerman]

I did see something about it on Discovery Health I believe, and it interested me because I thought it might fit my symptoms.  But I don't remember anything about rashes or reactions to sun and it seemed that the pain would flare up.  I do remember that the way the guy in the true story was diagnosed was by exposing his urine to sunlight.  The doctor put a urine sample out on the window sill and when it was exposed to sunlight, the urine turned purple.  I know this disease results in proteins or something being released excessively in the urine.  Just something for you to try on your own I guess, there may be info on it somewhere.

[KDPFellows]

i am a porph patient. You must be in an attack for severlal. Yes, you can have skin issues and chemical ( ingested, inhaled, absorbed) also hormonal, stress, infection, dieting is a nono. AIP is one of the tee that will test pos wth ouot an attack sometimes.other types of porph to test pos must be in attack and not being treated with Glucose IV with saline.Once you start the IV it changes the results/ It is tricky. yes the urine in the sunny window helps as it is the ony thing that will cause your usrine to turn, it can be green, blue, pink, red, pepsi color or in between. Do not give up . Go on line and join a porphyria support group they have lots of experiance and guidlines thta will help you. Good luck. The ave time from initial attack to diagnosis is 35 years (uggg) You do not have to wait that long.  Wishing you good luck. Usually a GI specialist is the best or liver spec.~
~K

[Soonerman]

KDP I was wondering what your symptoms where before you got diagnosed.  Also I am confused on which tests are used for diagnosis.  Will any normal blood or urine analysis be off if you have porpheria?  And is the urine color change a sure thing, I mean will it change everytime, or do you need to try during an episode/attack?  

[Elektra01]

My 27 year young son has RSD/CRPS and seemingly has some of the symptoms of this PROHYRIA. I was watching with keen interests about this topic on DISCOVERY HEALTH. The patient's name was Lauren Warren & Dr. Marshall.
I do so want to have this diagnosed and do not have much in funds and he is disabled due to the RSD or so the many DRS have indicated.  
Does anyone know how to reach these ppl and just how Lauren is doing now ?
TYVM for ALL of YOUR assistance & GOD BLESS U EVERY ONE!

[KathleenPhyllis]

My family and I need help for anyone that can offer any information or the name of a doctor that can help us.

My nine year old sister Mia has been recently diagnosed with AIP.  She sees a variety of  12 different doctors for her many conditions, each doctor concludes she has AIP yet her test came back negative we are waiting to have her retested during an attack and they feel as though at that time she will test positive.  None of the 12 doctors are able to treat her pain and suffering.  We have her on a high carb. and sugar diet, but her blood sugar stays between the 80's and the 90's after meals.

If any one can help my sisters many conditions consist of
- occasional headaches
- itching and the feeling of and eyelash in her eyes

- bad breath and yellowish-orange staining on her teeth

- muscle and joint pain (neck, back,knees, legs,)

- swollen stomach

- nausea

- veins visible on legs and bruising on lower legs

- fire feeling to the touch of her hands and feet

- rashes on hands and feet occasionally on arms (almost like and burn)

- jolting in her sleep

- severe abdominal pain

- can not be on her legs for more then 15mins

- very low blood sugar between the 80's and the 90's after meals

- pale stool, dark urine

- blue around her mouth

- yellowish-greenish color to her face

- shortness of breath

- extreme fatigue

- racing heart rate

- stomach ulcer, and reflux

- over emotional

- mood swings

- occasional paralysis

- rapid dehydration



Please if anyone has any information to a doctor that can help her, other then the porphyria foundation as she has not yet tested positive. They will not see her until she receives a positive result, nor as there been a documented case of an AIP at 9 years old.  Mia's symptoms have always been dormant her whole life, but only since a severe broken arm have her symptoms spiraled out of control.  Her doctors are at a loss on how to treat her as they have never encountered this disease.  Any information would be helpful and greatly appreciated.  We are located in South Florida.



Thank you,

Kathleen and family

[TrudieC]

I don't know a lot about Porphyria but do know that you can't get it unless you have a genetic marker for it.  My Maternal Grandmother's family has many people with it.  My grandmother and many of her brothers died from Porphyria.  You do inherit the marker from your mother.  My mother had a test and they determined that she doesn't carry the genetic marker so I and my son are safe.

[nenbie]

Im nenbie a Filipina, Im asking help with you guys for my sister who was diagnosed last september 2008 of having Porphyria. She was suffering for about two years,a series of pain in abdomen, back and vomiting. From early attacks some of the doctors thought that its just an ulcer so he took meds for ulcer for a year but nothings change she always have pain in the abdomen,vomiting monthly that take few days and even a week. I think as the months goes, the attacks get worse and it even get more frequent.as of now, To make her comfortable when shes in pain I inject her a pain reliever(demerol). but i know i cant do that all the time My family and I still seeking for a chance to have its confirmation. Were having a hard time to get answers if shes positive or negative with the said diagnosis because that disease here in the Philippines is not indentified yet because it was rare and there is no confirmatory test here in our country, and we dont have big money to brought her to abroad for treatment. I wish one of u guys can help us.your help is appreciated.. Godbless.. Thank you very much for ur time in reading this post..

[Barb 3]

Porphyria is a very rare condition. You can have the marker for it, but never get any active symptoms your whole life. Or.......you can have a surgery, infection, low carb diet or ? and the Porphyria will rear it's ugly head. I find the biggest problem with the disease is the complete lack of knowledge about this condition at almost every level of the medical field. I personally have been suffering with this disease and it's complex symptoms for 3 years now. A hysterectomy and ruptured ovarian cyst (10 days later) seems to be my culprit. I have had severe Neurological involvement, which started with my eyes burning like they had onions being rubbed on them!!!  The burning sensation then traveled to my sinuses, throat and chest. My heartrate shot up to 150+ when I stood, and 195 upon climbing 12 stairs!! (I am a very healthy 43 year old woman who saw her doctor maybe once every 3 years before this). I have fainted on 5 occasions, with one of those occasions resulting in an ER trip to have stitches to my head. (Incidentally, the Cardiologist insisted that I fainted because I was at the vet's office, which infuriated me, as my dog just had a shot (one of many).......and I am in the medical profession....I've seen it all! It was insulting to me to hear that, as I had felt HORRIBLE for days prior to that day and felt 'fainty' all morning!! I too have the body twitches. They are so bad at times that they keep me from falling asleep. I have severe bouts of abdominal pain,limb pain, constipation and fatigue so bad that I didn't have the strength to lift my arms. I even had a couple of red centipedes (hallucinations) running up and down my walls. All of these symptoms are very disconcerning when you have not had a proper diagnosis and all of your (common) blood tests come back 'normal'. I think the most frustrating thing about this condition though, is the fact that specialists can be shown positive results from Porphyrin testing (in my case, my Europorphyrins were 3 1/2 X what they should have been!), and yet they don't seem to know what to do with me. This disease can (in very rare cases) cause respiratory paralysis, and death, so it should NOT be taken lightly by your physician. Medic alert bracelets should be worn by those affected so that the correct treatment can be administered should you have a bad attack. Even though I have had VERY elevated porphyrin levels (two types), I have yet to be 'officially' diagnosed as having Porphyria. I am now seeing my Cardiologist again in a week because I feel like I am 'snowed' all the time on all of the Beta Blockers that I'm on. I am on Amitriptyline for the Neurological pain (my WONDER drug!!!!). I have tried Gabapentin, Lyrica and a host of other drugs to help keep the continuing eye-burning symptoms at a manageable level. The Amitriptyline has (by far) worked the best for me! I am scheduled to see a Metabolic doctor in the near future. I'm hoping that he/she can give me the answers that I crave. From everything that I read on Porphyria, you can not have Porphyrin levels which are three and a half times higher than normal, and yet NOT have the disease. It is likened to a pregnancy test.You can NOT test positive for HCG (the 'pregnancy hormone') if you are NOT pregnant!! My results were 936 for Europorphyrins, and 0-300 was considered normal range.
To everyone out there who thinks that they might have this disease......be your own advocate, and push for the tests to prove that you have this. Remember, if you are not having an 'active' attack, your results may indicate 'normal'. But........that is why this disease is called Acute Intermittent Porphyria......because it can come intermittently.
Good luck!!!

[dana88]

Mrs. Salma is one of your regular patients who has acute porphyria.  The GP is aware that there may be some drugs which may be unsafe to prescribe for her.
From the following list, which drug is safe to prescribe for Mrs. Salma?
A    Methyldopa
B    Oxybutynin
     C    Diazepam
D    Chlorambucil
E     Glipizide

[shelly439]

hi there i have acute intermittent porphyria my dads family have a histry of it my dad has been told he does not have it my bro does not have it but i do!!! 25% of people that are tested ever get a positive diagnosis, apart from when having an attack obviously it is really easy to diagnose then! some docs say my dad must be a carrier of it and when i was first tested for it i was told i did not have it and it was not until i was oregnant i got tested again and told yes you have it!! it is so difficult as nobody really knows that much about it and some docs just take the risk with drugs i went to the porphyria website and it gives you a whole list of safe and unsafe drugs and i carry this with me at all times as it helps doctors
hope this helps people