Porphyria
Porphyria facts*
*Porphyria facts medically edited by William C. Shiel Jr., MD, FACP, FACR
- Porphyria is a group of diseases that are due to the deficiency of one of the enzymes needed to make an important substance in the body called heme.
- Porphyrias are often classified as acute or cutaneous. Acute types of porphyria affect the nervous system, whereas cutaneous types mainly affect the skin.
- Most porphyrias are inherited disorders.
- People with cutaneous forms of porphyria develop blisters, itching, and swelling of their skin when it is exposed to sunlight. Those with acute forms of porphyria develop numbness, tingling, paralysis, cramping, vomiting, constipation, personality changes or mental disorders, and/or pain in the abdomen, chest, limbs, or back.
- Doctors diagnose porphyria using blood, urine, and stool tests.
- 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.
Next: What is porphyria?
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