Porphyrin tests are essential for diagnosing and monitoring porphyrias, rare diseases that are often inherited. By measuring the levels of porphyrins in blood, urine, or stool, these tests can identify imbalances that can cause a variety of symptoms, from abdominal pain to skin problems.
Porphyrin tests measure the level of porphyrins in your blood, urine (pee), or stool (poop). Your body uses porphyrins to make heme. Heme is part of hemoglobin, which is a protein in your red blood cells that carries oxygen from your lungs to the rest of your body.
It's normal to have a small amount of porphyrins in your blood and other body fluids. But too much porphyrin can mean you have a type of porphyria. Porphyrias are a group of diseases that occur if you lack one of the proteins needed to turn porphyrins into heme. If your body doesn't use porphyrins properly, they can build up and cause illness.
Porphyrias are very rare disorders that are usually hereditary. This means that these diseases tend to be passed on in families due to a change in a gene that is passed from parents to children. There are two main groups of porphyrias:
Each group of porphyrias includes different types of the disease.
Other names: protoporphyrin; protoporphyrin, blood; protoporphyrin, blood; protoporphyrin, stool; porphyrin, faeces; uroporphyrin; porphyrins, urine; Mauzerall-Granick test; acid; ALA; ALA; porphobilinogen; porphobilinogen; stool; PBG; free erythrocyte protoporphyrin; porphyrin; porphyrins, faeces; uroporphyrin; porphyrins, porphyrins, urine; Mauzerall-Granick test; acid; ALA; ALA; porphobilinogen; porphobilinogen; PBG; free erythrocyte protoporphyrin; fractionated erythrocyte porphyrins; FEP
Porphyrin tests are used to diagnose or monitor all types of porphyria.
You may need a porphyrin test if you have symptoms of porphyria. Each group of porphyria has different symptoms:
Symptoms of acute porphyria may be mild or severe. Without early treatment, they can worsen and even become fatal. Symptoms may include:
Symptoms of cutaneous porphyria occur when the skin is exposed to the sun. Symptoms of some types of cutaneous porphyria include:
Other types of cutaneous porphyria generally do not cause blisters. Instead, sunlight can cause these skin symptoms:
If someone in your family has porphyria, you may need a porphyrin test to see if you have inherited the condition. But the most common type of porphyria is not hereditary. It usually develops after age 30 and can be caused by conditions such as:
Porphyrins can be tested in blood, urine, or stool. The most common types of porphyrin tests are listed below.
You do not need special preparations for blood or urine tests.
For a stool test, you may be asked not to eat meat or take medications containing aspirin for three days prior to your test.
There is very little risk in taking a blood test. You may feel a slight pain or bruise where the needle was inserted, but most symptoms go away quickly.
There are no known risks for urine or stool tests.
If high levels of porphyrin are found in your blood, urine, or stool, your health care provider will likely order additional tests to confirm a diagnosis and determine what type of porphyria you have. Although there is no cure for porphyria, the condition can be managed. Certain lifestyle changes and/or medications may help prevent symptoms and complications of the condition. The specific treatment depends on what type of porphyria you have. If you have questions about your results or about porphyria, talk to your healthcare provider.
Learn more about lab tests, reference ranges, and understanding results.
Although most types of porphyria are hereditary, other types of porphyria can also be acquired. Acquired porphyria can be caused by a variety of factors, including overexposure to lead, HIV, hepatitis C, excess iron, and/or excessive alcohol consumption.
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