Thursday, June 3, 2010

Close, But No Cigar

I received the results from my porph screen, read about it here. This is what it says:

Tests ordered: Porphyrins, Qn, Random U

Uroporphyrins (UP) 23 H
normal range: 0 - 20 ug/L
Heptacarboxyl (7-CP) 11 H
normal range: 0 - 2 ug/L
Hexacarboxyl (6-CP) <1
normal range: 0 - 1 ug/L
Pentacarboxyl (5-CP) 2
normal range: 0 - 2 ug/L
Coproporphyrin (CP) I 26 H
normal range: 0 - 15 ug/L
Copropphorphyrin (CP) III 7
normal range: 0 - 49 ug/L

When I took the phone call from Dr. Premier, I was so excited to hear that my levels came back high. Then he explained to me that they are not high enough to get a diagnosis. This I don't understand... and still don't. After all, my heptacarboxyl level is more than 5 times over normal limits. Does that not mean anything? Apparently not enough.

Dr. Premier explained that in order to receive a porphyria diagnosis, my levels need to be greater than 10 times the normal limits. So we were close, but no cigar. How do I get my levels that high? I have to be in an attack... that's right, these levels represent me NOT in an attack. I was disappointed, but I also felt validated. For almost 2 years I have been telling doctors, nurses, family, friends, even myself, that something is wrong. That I don't feel like myself. Now I know that I was right, and that feels good.

Side note: I still don't understand why 5 times the normal limits doesn't get a person diagnosed. I asked my doctor these questions about porphyria.
me: "What else causes elevated porphyrin levels?"
Dr: "Nothing."
me: "What else causes urine to turn purple?"
Dr: "Nothing else I can find."
me: "So if there's nothing else that causes these things, why can't I get a diagnosis?"
Dr: "Well...(long pause)...the geneticist (from Mayo who has been consulting) has told me that normal, healthy people can have slightly (key word) elevated prophyrin levels. So that's why the porphyria diagnosis must be 10 times the levels to distinguish between normal and porphyria."
me: "Can a normal, healthy person have elevated levels 5 times?"
Dr: "I don't think so."

So what I took away from that conversation is that there is no research about porphyria. I can accept that some normal people can have elevated levels. I can accept that you want to make sure that there is a distinguishing point between normal and porphyria. But who came up with 10 times? It seems like a large gap. I've read on other's blogs and forums that when you go into attacks, your levels skyrocket... but why should we have to go through that in order to be diagnosed and get help? I'm sick now, with levels 5 times the normal limits, but can't get treatments. This is wrong, and I told Dr. Premier that...and he agreed.


  1. Jan,
    Was the test they ran for this in a light blocking container and was the sample kept cold? I just had a screen and the container was a regular sample container and they were not going to keep it cold. My urine was the color of copper and I was sure I was in an attack.

  2. These test results were actually not from a 24 hour urine catch. I was planning on doing a sunlight test, and when I saw what color my urine was already, I thought Dr. Premier would be interested in seeing it in person. Until this point he had only seen pictures. So I took my glass jar of pee over to his office. Because it was already dark, he did a basic screen on it.

  3. I personally do not understand this stuff myself I was just 'diagnosed' according to my doctor with this prophyria - my levels are higher yet not at that 10 times that you speak of.

    For instance my Coproporph is 114, Uroporph is 80, Heptacab is 27. ALL the other levels are elevated to at least triple as well. I have had leg, arm, hand, back and neck pain for a long time and currently being treated for Hemochromatosis and possibly have cellular carcanoma/Liver cancer (spelling probably off). One dr says I have it another said I dont, and with my insurance (county paid) I really do not get the benefit of a 2nd opinion unfortubatly so my life is litterally in the balance of the right one being correct. It is a 4cm mass that is growing on my liver - one claims it is just a mass of blood vessels while the other says it looks like cancer and needs to be checked.

  4. I have heptacarboxyl porphyria. What is this? What are the symptoms.

  5. I have been dealing a plethora of health problems myself for over 5 yrs now with many diagnosis but no doctor able to find a root cause. Recently I switched to a doctor who is known for his rather unorthodox approaches to traditional medicine. He has tested me twice w/a 24hr porphyrin urine collection. Both times it came back with some measuring high. He explained that when the levels are high and yet the subject feels relatively healthy, it can mean they have recently had an attack or that the person has been exposed to heavy-metal toxicity. I hope this information helps.