I have just been diagnosed with porphyria?

December 20, 2008 | By admin In New Diseases |
rare disease
sandy

I am researching it, but I am wondering if anyone has this quite rare disease, and if so, what are your experiences with it. Thanks.

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3 Comments so far

  1. gangadharan_nair on December 20th, 2008

    Porphyria is a disorder caused by a change in the amount of porphyrins found in the blood. This can cause abdominal pain, skin lesions, light sensitivity, anemia, and neurological changes.
    Porphyria is a group of inherited disorders involving abnormalities in the production of heme pigments (the base material responsible for hemoglobin (red blood cell pigment), myoglobin (reddish muscle cell pigment), and another group of materials called cytochromes.(MedlinePlus)
    Porphyrias result from genetic deficiencies of enzymes of the heme biosynthetic pathway. These deficiencies allow heme precursors to accumulate, causing toxicity. Porphyrias are defined by the specific enzyme deficiency. Two major clinical manifestations occur: neurovisceral abnormalities (generally the acute porphyrias) and cutaneous photosensitivity (generally the cutaneous porphyrias).(Merck)
    Please see the web pages for more details and images on Porphyria.

  2. porphyrins on December 21st, 2008

    Hi,

    I was dxed with porphyria but there is so much to this disease I could never have the room here to detail.

    I am glad you are researching it because the physicians lack the education to test and treat.

    I have collected tons of information on the disease, but over the years have stopped researching because of the madness surrounding disease. I would love to share what I have, so if you want to chat, you can email me at angelique(at)porphyrins(dot)org.

  3. Nita on December 21st, 2008

    I have variegate porphyria and welcome contacts.

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