Porphyrins and Porphobilinogens Test-Why am I having this test?

Porphyrins and Porphobilinogens Test is used to help diagnose porphyria. Porphyria is a group of disorders that are passed down from parent to child (inherited).

These disorders involve problems with how the body makes heme, which is a part of hemoglobin. Hemoglobin is the portion of the red blood cell that carries oxygen and carbon dioxide throughout your body.

Your health care provider may perform this test if you have symptoms of one of the types of porphyria. Symptoms may include:

• Abdominal pain.
• Confusion or seeing things that are not there (hallucinations).
• Reddening, blistering, or scarring of sun-exposed skin.
• Tingling in your hands or feet.

What is being tested?

This test measures the amount of enzymes called porphyrins and porphobilinogens. These are important building blocks of heme. Porphyria causes the body to produce increased amounts of these enzymes.

What kind of sample is taken?

A urine sample is required for this test. Urine samples should be collected over a 24-hour period using sterile containers that are provided to you by the lab.

How do I collect samples at home?

You may be asked to collect urine samples at home over a 24-hour period. Follow instructions from a health care provider about how to collect the samples.

When collecting urine samples at home, make sure you:

• Use supplies and instructions that you received from the lab.
• Collect urine only in the germ-free (sterile) cup that you received from the lab.
• Do not let any toilet paper or stool (feces) get into the cup.
• Refrigerate the sample until you can return it to the lab.
• Return the samples to the lab as instructed.

How do I prepare for this test?

There is no preparation required for this test. However, during the 24-hour sample collection period, make sure you:

• Do not drink alcohol.
• Drink plenty of fluids.
• Do not take certain medicines. Your health care provider will tell you which medicines you should avoid.

How are the results reported?

Your test results will be reported as values. Your health care provider will compare your results to normal ranges that were established after testing a large group of people (reference ranges). Reference ranges may vary among labs and hospitals. For this test, common reference ranges are:

Total porphyrins (mcg in 24 hours):

• Male: 8–149.
• Female: 3–78.

Uroporphyrin (mcg in 24 hours):

• Male: 4–46.
• Female: 3–22.

Coproporphyrin (mcg in 24 hours):

• Male: Less than 96.
• Female: Less than 60.

Porphobilinogens:

• 0–2 mg in 24 hours or 0–8.8 μmol/day (SI units).

What do the results mean?

Test results that are above the reference ranges may indicate:

• Different types of porphyria.
• Lead poisoning.
• Liver disease.

Talk with your health care provider about what your results mean.

Questions to ask your health care provider

Ask your health care provider, or the department that is doing the test:

• When will my results be ready?
• How will I get my results?
• What are my treatment options?
• What other tests do I need?
• What are my next steps?

Summary

• This test is used to help diagnose porphyria. Porphyria is a group of disorders that are passed down from parent to child (inherited) and can cause various symptoms.
• These disorders involve problems with how the body makes heme, which is a part of hemoglobin.
• This test measures the amount of enzymes called porphyrins and porphobilinogens. These are important building blocks of heme.
• Talk with your health care provider about what your results mean.