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Tests and diagnosis
By Mayo Clinic staffMany signs and symptoms of porphyria are similar to those of other more common diseases. Also, because porphyria is rare, many doctors have not seen cases of the disorder before, making it more difficult to diagnosis. Because porphyria's signs and symptoms usually aren't distinctive, laboratory tests are required to make a definitive diagnosis of porphyria and to determine the form of the disease you have.
If your doctor suspects porphyria, he or she may recommend the following tests:
- Urine test. If you have a form of acute porphyria, a urine test may reveal elevated levels of two substances: porphobilinogen and delta-aminolevulinic acids, as well as other porphyrins.
- Blood test. If you have a form of cutaneous porphyria, a blood test may show an elevation in the level of porphyrins in the liquid part of your blood (plasma).
- Stool sample test. Analysis of a stool sample may reveal elevated levels of some porphyrins that may not be detected in urine samples. This test may help your doctor determine your specific type of porphyria.
- Porphyria. National Digestive Diseases Information Clearinghome (NDDIC). http://digestive.niddk.nih.gov/ddiseases/pubs/porphyria/. Accessed March 24, 2009.
- Porphyria. Genetics Home Reference. Accessed March 24, 2009.
- Sassa S, et al. Understanding the porphyrias. http://www.uptodate.com/home/index.html. Accessed March 24, 2009.
- Learning about porphyria. National Human Genome Research Institute. http://www.genome.gov/pfv.cfm?pageID=19016728. Accessed March 24, 2009.
- About porphyria. American Porphyria Foundation. http://www.porphyriafoundation.com/. Accessed March 24, 2009.
- Anstey AV, et al. Liver diseases in erythropoietic protoporphyria: Insights and implications for management. Gut. 2007;56:1009.
- Sassa S, et al. Porphyria cutanea tarda, hepatoerythropoietic porphyria, and toxic porphyria. http://www.uptodate.com/home/index.html. Accessed April 2, 2009.
