porphyria...ever heard of this?

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So my DR calls and says I have porphyrins in my 24hr urine test.  I need to go to a hematologist.  There isn't a whole lot of info on this and frankly kind of freaked out a bit.  I have been having a lot of gut issues lately along with fatigue...= apparently I may have a rare genetic blood disorder....anone know anything about this?

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  • Posted

    I heard of this in medical school, and it maybe interited condition that causes certain proteins (porphyrins) to overproduce that are required for RBC or hemoglobin production in the blood.

     It is important that the type of porphyria that you have should be identified. This is because they can have different symptoms and effects on the body. Symptoms can include tummy (abdominal) pain, nervous system problems, mental health problems and skin problems. You may need to avoid  certain medicines or alcohol that may 'trigger' an attack of porphyria.

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  • Posted

    Have you read this leaflet, it might help you.  Try not to worry.

    https://patient.info/health/porphyria-leaflet

    Good luck.

     

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    • Posted

      I have since been in contact with the porphyria foundation and their doctors.  They would like to see additional testing but the current results are only slightly elevated...range 2-24 mine are 26 and the foundation doctor said most people with the disease are in the thousands.  They also said many other problems can result in elevated porphyrins that aren't porphyria.  

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    • Posted

      I hope so.  Still have a mystery gut illness that noone can figure out. sad
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    • Posted

      Are you on any drugs?  They all have side effects & some interact with others.  This includes things that you can buy over the counter.

       

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    • Posted

      otc nexium is the only thing I take, I was recently put on this to help with the constant nausea I got after eating.  They thought it was my gall bladder, but I never had the crippling pain with that, a few weeks ago I began to run a 101+fever, the same day my dr. ordered a gall bladder ultrasound, he told me to go the emergency room.  Gall bladder is ok per ultra sound and ct scans.  They gave me a bag of iv antibiotics and the following week I felt better than I have in two years.  Noone can seem to figure it out.
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    • Posted

      I wondered whether perhaps you have a Campylobacter infection, some people can have it without  signs, other than the ones you mention.

       

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    • Posted

      I have thought some type of infection, I dont have diarrhea which is the main symptom of that. I have been scoped both ends and checked for chrones, h pylori, and celiac
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  • Posted

    Hi, I have porphyria cutanea tarda. My symptoms were red urine, unexplained blisters and skin fragility on hands, arms and face and also increased hair growth in these areas. Mine is a cutaneous (skin)porphyria. I think there are 9 types? some cutaneous like mine and some are acute and involve the nervous system aswell. It's important you find out which if any porphyria you have as acute attacks can be life threatening. Are you any further along getting a diagnosis?

    Stacie. X

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