Diagnosing Porphyria

What is porphyria?

Porphyria is a group of rare disorders that affect the skin (cutaneous porphyria) and nervous system (acute porphyria). It involves a buildup of natural chemicals called porphyrins in the body. Porphyrins are necessary for the production of heme, which is a part of hemoglobin. Hemoglobin carries oxygen to organs and tissues.

In order to convert porphyrins into heme, eight enzymes are needed. Without these enzymes, porphyrins build up in the body. This results in major issues, especially regarding the nervous system and skin.

Diagnosing porphyria

Porphyria often mimics other conditions, which makes the diagnosing process difficult. In addition to gathering a medical history and performing a physical exam, blood, urine and stool screenings, along with genetic testing, are needed to properly diagnose porphyria.

Medical history and physical examination

A medical history will be gathered and evaluated. This should include detailed symptoms, family medical history, and medications. A physical exam will also be conducted.

Blood, urine and stool screening

Blood and/or urine will be screened for porphyrins, or porphyrin precursors. Occasionally, a stool sample may be necessary for diagnosis or to determine the type of porphyria.

Genetic testing

A genetic test of a blood sample can confirm the diagnosis. Family members may also be requested to test for porphyria.