Porphyria

Overview

Mayo Clinic specialists in hematology, neurology, and dermatology have expertise in treating porphyrias. They take a compassionate approach and provide excellent treatment to patients with the various types of porphyrias.

Diagnosis

Porphyrias are often difficult to diagnose because the symptoms can be vague and similar to those of other disorders. Mayo Clinic specialists consider clinical symptoms to determine which tests can confirm the presence of the disorder. Depending on the enzyme deficiency suspected, the specialists order tests that measure porphyrins in the blood, urine, or stool. When initial tests confirm an accumulation of porphyrins, specialists use additional tests to quantify the enzymes.

Treatment Options

Hematologists, neurologists, dermatologists, and other specialists at Mayo Clinic help patients manage the disease with the most appropriate treatment possible. For patients with the most common non-acute porphyria (porphyria cutanea tarda [PCT]), physicians screen for other diseases and prescribe measures to decrease the skin's sensitivity to light. Patients with the rare acute intermittent porphyria (AIP) are often hospitalized. Read more about porphyria treatment options.

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About Porphyria

Porphyria is not a single disease, but a group of metabolic disorders caused by deficiencies of enzymes involved in the production of heme. Heme is a chemical compound that contains iron, gives blood its red color, and is the key component of several important proteins in the body. Different porphyrias have different symptoms, and each disorder requires a different diagnostic test and treatment. The two most common types are porphyria cutanea tarda (PCT) and acute intermittent porphyria (AIP). Erythropoietic protoporphyria is the third most common porphyria.

A common feature of porphyrias is an accumulation of porphyrins, normal body chemicals. Most types of porphyria are hereditary, but 90 percent of those who carry the disease have no clinical symptoms.

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