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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 which 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 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.
References
- Puy H, et al. Porphyrias. The Lancet. 2010;375:924.
- Learning about porphyria. National Human Genome Research Institute. http://www.genome.gov/pfv.cfm?pageID=19016728. Accessed March 22, 2011.
- Porphyria. National Digestive Diseases Information Clearinghome (NDDIC). http://digestive.niddk.nih.gov/ddiseases/pubs/porphyria/Porphyria.pdf. Accessed March 22, 2011.
- Anderson KF. Porphyrias: An overview. http://www.uptodate.com/home/index.html. Accessed March 22, 2011.
- Porphyrias. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merckmanuals.com/professional/print/sec12/ch155/ch155a.html. Accessed March 22, 2011.
- Desnick RJ, et al. The porphyrias. In: Fauci AS, et al. Harrison's Online. 17th ed. New York, N.Y.: The McGraw-Hill Companies; 2008. http://www.accessmedicine.com/content.aspx?aID=2883658. Accessed March 22, 2011.
- Singal AK, et al. Porphyria cutanea tarda and hepatoerythropoietic porphyria. http://www.uptodate.com/home/index.html. Accessed March 22, 2011.
- Wolanskyj AP (expert opinion). Mayo Clinic, Rochester, Minn. April 5, 2011.
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