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What Causes Porphyria?

Posted on Wed, 18 May 2016

Question: I was tested for Porphyria in October of 2015. The specimen was a 24 hour urine collection that they had to repeat 3 times because they did not handle it properly. My labs were explained to be "highly suggestive" of this condition, however there was no treatment provided or additional testing to confirm. What type of doctor should I see and can you review my labs to give me advice? My symptoms match this condition clinically, but I am concerned. thank you, XXXXXXX

Answered by Dr. Shailja Puri (2 hours later)

Brief Answer:
Urine speciation of porphyrin by HPLC is required next.

Detailed Answer:
Hello,
Thanks for posting your query on HealthcareMagic.
Porphyrias are a group of disorder caused by deficiency of enzyme responsible for metabolism of heme in body.
Heme is the breakdown product of hemoglobin, the red pigment in red blood cells.
deficiency of a particular enzyme leads to accumulation of subsequent product in body.
A report 'suggestive of porphyria' should be followed by urine speciation of porphyrin by high performance liquid chromatography (HPLC).
This test identifies the enzyme which is actually deficient and the product which is being accumulated in body.
The treatment can be planned once the deficient enzyme is identified.
You need to consult a hematologist for further assistance.

Thanks and take care
Dr Shailja Puri

Above answer was peer-reviewed by : Dr. Raju A.T

Follow up: Dr. Shailja Puri (1 hour later)

Can you possibly look at my labs to see if that was done or not?
They are attached.

Also, my blood is suggestive with positive test results, but my urine did not suggest this? I don't understand how that would work, unless it has something to do with the IV fluids I was getting at the time or that it was at the end of a possible "crisis". My endocrine said she could help to treat this, but I am more concerned because I don't feel certain about the diagnosis.

Is it typical that there could be a false positive?
thanks again!

Answered by Dr. Shailja Puri (14 hours later)

Brief Answer:
There is possibility of false positive value for porphobilinogen.

Detailed Answer:
Hello and welcome again,
Your test reports show an array of various investigations.
Out of these investigations, it is seen that level of porhobilinogen is elevated which can be seen in acute porphyria, a type of porphyria which manifestes with neurological and abdominal symptoms.
An enzyme called porphyrin deaminase is elevated in acute intermittent porphyria, thus, this finding is against diagnosis of acute intermittent porphyria.
All other porphyrins are within range except porphobilinogen.
With these findings, there is possibility of false positive results.
You may take up repeat test after some time for re-confirming the value of porphobilinogen after consultation with your treating physiciian.

Thanks and take care
Dr Shailja Puri

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Above answer was peer-reviewed by : Dr. Yogesh D