Many signs and symptoms of porphyria are similar to those of other more common diseases. Also, because porphyria is rare, it can be more difficult to diagnosis. Lab 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 these tests:
- Urine test. If you have a form of acute porphyria, a urine test may reveal elevated levels of two substances: porphobilinogen (por-foe-bih-LIN-uh-jen) and delta-aminolevulinic (uh-me-no-lev-yoo-LIN-ik) 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.
More tests may be needed to confirm the type of porphyria you have. Genetic testing may be suggested in the family of a person with porphyria.
May 20, 2014
- Information for professionals. The Porphyrias Consortium. https://rarediseasesnetwork.epi.usf.edu/porphyrias/professionals/index.htm. Accessed Feb. 7, 2014.
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- Overview of porphyrias. The Merck Manuals: The Merck Manual for Health Care Professionals. http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/porphyrias/overview_of_porphyrias.html. Accessed Feb. 7, 2014.
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- Riggin, EA. Decision Support System. Mayo Clinic, Rochester, Minn. Nov. 21, 2013.
- Panhematin hemin for injection (prescribing information). Lebanon, N.J.: Recordati Rare Diseases, Inc.; 2013. http://www.aiporphyria.com/. Accessed Feb. 12, 2014.
- Porphyrin tests. Lab Tests Online. http://labtestsonline.org/understanding/analytes/porphyrins/tab/sample. Accessed Feb. 17, 2014.
- Tracy JA, et al. Porphyria and its neurologic manifestations. Handbook of Clinical Neurology. 2014;120:839.
- Pittelkow MR (expert opinion). Mayo Clinic, Scottsdale, Ariz. March 17, 2014.
- Solberg LA Jr. (expert opinion). Mayo Clinic, Jacksonville, Fla. March 18, 2014.
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