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How is porphyria diagnosed?

Dr. Mehmet Oz, MD
Cardiology (Cardiovascular Disease)
Your doctor may use blood, urine, and stool tests to diagnose porphyria. Porphyria is one of a group of disorders caused by problems with how your body makes heme, an iron-containing chemical that gives blood its red color. Some types of porphyria affect the body's nervous system. Other types of porphyria, called cutaneous porphyrias, cause itching, swelling, and blistering of the skin, usually when you have been out in the sun.

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.

This answer is based on source information from National Institute of Diabetes and Digestive and Kidney Diseases.

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