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What are the symptoms of porphyria?

People with cutaneous forms of porphyria develop blisters, itching, and swelling of their skin when it is exposed to sunlight. Symptoms of acute forms of porphyria include pain in the abdomen, chest, limbs, or back; numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. Acute attacks of porphyria can develop over hours or days and last for days or weeks.

Symptoms can vary widely in severity. Some people with gene mutations that can cause porphyria have no signs or symptoms of the disorder. These people are said to have latent porphyria.

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.

How is porphyria treated?

Each type of porphyria is treated differently. Treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. People who have severe attacks may need to be hospitalized.

Medically reviewed by Jeffrey A Gordon, MD; American Board of Internal Medicine with subspecialties in Oncology and Hematology


National Digestive Diseases Information Clearinghouse (NDDIC). "Porphyria." National Institutes of Health (NIH). July 2008. <http://digestive.niddk.nih.gov/ddiseases/pubs/porphyria/>.

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