Porphyrin Tests

Why this test may be ordered

• To help diagnose or monitor all types of porphyria
• If you have symptoms of acute porphyria (e.g., abdominal pain, constipation, nausea, vomiting, mental changes, red or brown urine, muscle weakness, paralysis, breathing problems, skin blisters in sunlight)
• If you have symptoms of cutaneous porphyria (e.g., blisters, fragile skin, slow healing, infections, skin color changes, scarring, or pain/burning/stinging/tingling/redness/swelling in sunlight)
• If someone in your family has porphyria, to see if you have inherited the condition

Preparation and collection

You don't need any special preparations for blood or urine tests. For a stool test, you may be instructed to not eat meat or take any aspirin-containing medicines for three days prior to your test.

Porphyrins can be tested in blood, urine, or stool. The type of test your provider will use to diagnose you will depend on the type of porphyria they think you might have. You will collect all your urine during a 24-hour period. Be sure to follow all instructions carefully.

There is very little risk to having a blood test. You may have slight pain or bruising at the spot where the needle was put in, but most symptoms go away quickly. There are no known risks to urine or stool tests.

Understanding results

Porphyria is a rare disease and is hard to diagnose. Many of the symptoms of porphyria are similar to those of other, more common diseases.

• Normal porphyrin levels: It's normal to have a small amount of porphyrins in your blood and other body fluids. Limitation: Porphyria is a rare disease and is hard to diagnose. Next step: If you have questions about your results or about porphyria, talk to your provider.
• High porphyrin levels in blood, urine, or stool: But too much porphyrin may mean you have a type of porphyria. Limitation: Many of the symptoms of porphyria are similar to those of other, more common diseases. Next step: If high levels of porphyrin are found in your blood, urine, or stool, your provider will probably order more tests to confirm a diagnosis and to find out what kind of porphyria you have.

• Porphyria is rare and hard to diagnose; symptoms overlap with more common diseases.
• High porphyrin levels require confirmatory testing to establish a diagnosis.
• Reference intervals and interpretation should be provided by your healthcare professional.

What to do next

While there is no cure for porphyria, the condition can be managed. Specific treatment depends on the type of porphyria you have. If you have questions about your results or about porphyria, talk to your provider.

• What type of porphyria do my results suggest?
• Do I need additional tests to confirm the diagnosis?
• What lifestyle changes or treatments might help manage my condition?

Evidence source

Source: U.S. National Library of Medicine (MedlinePlus). Practices and reference ranges may differ in your country.

U.S. National Library of Medicine: Porphyrin Tests

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