Porphyria - Diagnosis

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How is porphyria diagnosed?

Doctors diagnose porphyria using blood, urine, and stool tests. Interpreting test results can be complex, and initial tests may be followed by further testing to confirm the diagnosis. Diagnosis may be delayed because the symptoms of porphyria are similar to symptoms of other disorders.

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See what others are saying

Comment from: Sands33, 35-44 Female (Patient) Published: February 04

At 17, I developed an intense ache in my lower legs. For the next 15 years, no one was able to diagnose my small fiber unmyelinated, autonomic neuropathy. I was treated for the pain and the nerve damage, but it never seemed to get better. My pain doctor was getting ready to put a pain pump in me, but I felt something was still missing. I went to see a new neurologist and after routine lab tests and eliminating lead and other toxins, he said, 'it's probably not this disease, but let's test you for porphyria.' He couldn't even interpret the results. He sent me to a hematologist, who also didn't know what to make of the results. I wasn't going to give up when after all these years, to finally know what was/is wrong with me! I asked to be sent to someone who knows about this disease. I was fortunate to go to a University where this is studied, and given a confirmation of AIP (acute intermittent porphyria). I'm finally going to start my infusions this month. My take away from my experience is that not all doctors finish at the top of their class. And don't give up on your health. If you know something is wrong, be the biggest advocate for yourself, no one else will.

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