Porphyria

Overview

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.

Why choose Mayo Clinic

• Expertise and team approach. At Mayo Clinic, a team of specialists from hematology, dermatology, gastroenterology and sometimes neurology and other areas work together to consider your symptoms, determine what tests you need, and provide diagnosis and personalized treatment.
• Latest diagnostic and treatment options. Porphyrias are so rare that many doctors have never seen cases before, making diagnosis difficult. Misdiagnosis can occur because symptoms may be vague and test results can be hard to interpret. At Mayo Clinic, experts specialize in accurate testing, diagnosis and treatment of porphyrias, using the latest tools and technology.

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At Mayo Clinic, we assemble a team of specialists who take the time to listen and thoroughly understand your health issues and concerns. We tailor the care you receive to your personal health care needs. You can trust our specialists to collaborate and offer you the best possible outcomes, safety and service.

Mayo Clinic is a not-for-profit medical institution that reinvests all earnings into improving medical practice, research and education. We're constantly involved in innovation and medical research, finding solutions to improve your care and quality of life. Your doctor or someone on your medical team is likely involved in research related to your condition.

Our patients tell us that the quality of their interactions, our attention to detail and the efficiency of their visits mean health care — and trusted answers — like they've never experienced.

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