Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen.
Porphyrias affect the skin or the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The nervous system type is called acute porphyria. Symptoms include pain in the chest or abdomen, vomiting, and diarrhea or constipation. During an attack, symptoms can include muscle numbness, tingling, paralysis, cramping, and personality or mental changes. Certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress and sun exposure. Attacks develop over hours or days. They can last for days or weeks.
Porphyria can be hard to diagnose. It requires blood, urine and stool tests. Each type has a different treatment. It usually involves medicine, treatment with heme or drawing blood.
National Institute of Diabetes and Digestive and Kidney Diseases
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|Date last updated: 14 July 2008
Topic last reviewed: 11 August 2008