Porphyria (poor-FEAR-ee-uh) refers to a group of metabolic disorders caused by deficiencies in enzymes that produce heme. Heme contains iron and gives blood its red color. Porphyrins are normal body chemicals, but if they build up, they can make you sick. Abnormal amounts can be detected in your blood, urine or stool. Some types of porphyria are mild, but others can be severe.
Cutaneous porphyrias affect the skin, causing symptoms such as blisters, itching and skin swelling (edema). Acute porphyrias affect the nervous system and can cause physical symptoms such as pain, vomiting and numbness, as well as mental health issues, such as hallucinations or paranoia.
Most porphyrias are inherited. But the most common type, porphyria cutanea tarda (PCT), usually is acquired, most often when people develop liver disease. In the U.S., acute intermittent porphyria is the most common type of acute porphyria. Porphyria cutanea tarda is the most common porphyria that affects only the skin.
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