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Table of Contents
Types
Causes
Symptoms
Diagnosis
Treatment
Frequently Asked Questions
The production of heme in the bone marrow and liver will normally create a certain amount of porphyrins, but if the heme-producing enzymes are out of balance, porphyrins can build up and become toxic.
PorphyriaThe terms “porphyrin” and “porphyria” come from the Greek word “porphyrus,“meaning purple. The name was given to these chemicals because people who have a buildup of porphyrin can have discolored urine that has a dark or reddish hue, or it becomes darker the longer it is exposed to air.
Porphyria
The terms “porphyrin” and “porphyria” come from the Greek word “porphyrus,“meaning purple. The name was given to these chemicals because people who have a buildup of porphyrin can have discolored urine that has a dark or reddish hue, or it becomes darker the longer it is exposed to air.
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If your doctor suspects you have porphyria based on your symptoms, the doctor will order the appropriate screening test. This typically includes analysis of aurinesample from the patient.
Keep reading to learn more about how a urine sample can be used to help diagnose these rare enzyme disorders.
Types of Porphyria
There are several types of porphyria, and each leads to an accumulation of a different type of porphyrin. Below are some of the types of porphyria and the enzyme that causes them:
With each type, porphyria is the result of the overproduction or deficiency of a specific enzyme involved in the production of heme. There are many types of porphyria, but, overall, these conditions are rare.
How Common Is Porphyria?Only about 1 in 10,000 people have the most common form of porphyria (PCT), while 1 in 1 million people have CEP. For the rarest form of the condition (ADP), only six cases have ever been recorded.
How Common Is Porphyria?
Only about 1 in 10,000 people have the most common form of porphyria (PCT), while 1 in 1 million people have CEP. For the rarest form of the condition (ADP), only six cases have ever been recorded.
What Causes Porphyria?
Porphyrias usually develop because of an inherited genetic mutation. The mutation causes problems with the enzymes that work together to create blood cells.
What Are Enzymes?
The production of a molecule that contains iron (heme)p requires the work of several enzymes to create hemoglobin.
All About the Hematopoiesis Process
When Is Mucus in Urine Normal and Abnormal?
Acute Porphyria
Acute porphyrias evolve over several days and get worse with time. These types are sometimes calledneurologicporphyrias.Porphyrias that are included in this category include:
Abdominal pain is a common primary symptom in this category of porphyria. Other symptoms may also include:
Two porphyrias in this category—variegate porphyria and hereditary coproporphyria—may also cause symptoms like skin blistering after exposure to sunlight.
Most people (80%–90%) who carry genetic mutations for AIP, HP, and HCP never have symptoms or only have a few severe attacks of symptoms in their lifetime.
Cutaneous Porphyria
Cutaneous porphyrias mostly affect the skin, creating fragile or blistering areas on the backs of the hands, forearms, ears, neck, and face.
The main forms of porphyria that fall into this category are:
While CEP and HEP can develop in childhood, PCT only occurs in adults.Sensitivity to lightand pain, inflammation, or blistering aftersun exposureare the main symptoms of porphyrias in this group.
Rare Skin Diseases
The variety of symptoms that can occur with different types of porphyria can make it tricky to diagnose the condition. In many cases, a diagnosis only comes after other conditions have been ruled out.
Polyphorin tests are a common way to check the level of these chemicals in your body. The tests can be done using urine,stool, blood, or other body fluids.
Verywell / Shideh Ghandeharizadeh
With blood testing, a laboratory technician will remove a small amount of blood from your body—usually through a vein in your arm—for testing. When stool testing is done, your healthcare provider will give you a special container and instructions on where to bring the stool that you have collected at home.
Urine collection can be done in the following two ways when testing for porphyria:
When one of the acute porphyrias is suspected, a spot urine sample is often the best test to use because rapid diagnosis and treatment is important. Rapidly detecting elevated urinary porphyrins can allow treatment to be initiated quickly.
If you’re doing the collection at home, make sure to bring your urine sample to the doctor’s office or lab as soon as possible after completion.
What Your Urine Test Results Mean
Where to Go
If you are having a random urine sample collected for testing, it can usually be done at your doctor’s office and sent to a lab.Blood drawsare sometimes performed in a doctor’s office but are usually done in the lab.
If you are having a 24-hour urine or stool test, your doctor will send you home with a special container and instructions on how to do the collection, as well as where to bring it for testing.
Adults
When completing a 24-hour urine collection, you will be given a special container to take home. You will collect all your urine over a 24-hour period.You will add your urine to the container in a specific way, as follows:
Your doctor will give you instructions on how and where to bring your urine in for testing. Typically, you will bring the container to a lab.
Babies and Young Children
A 24-hour urine collection can be harder in babies and young children who are not toilet trained and are still in diapers. There is a specific process for doing a urine collection in this case, which is:
Taking a Second Test
There are no special preparations for a random or 24-hour urine collection, however, you should be aware of things that could skew the results of porphyrin testing, which would require you to have to do a second test.
Some things that may alter the results of your urine test include:
If your urine test is inconclusive, or your doctor wants a way to confirm a porphyria diagnosis, they may want you to havegenetic or DNA testingto identify specific gene mutations.
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Depending on how your test is done and where the lab that is doing the testing is located, your results could be ready in as little as a few hours, or it may take several days.
While you wait, your doctor may give you information about porphyria and explain how to manage any symptoms.
There are no risks related to the test itself, but if you haveblood testingdone, you may have some tenderness or bruising at the collection site.
Understanding Your ResultsBlood, urine, and stool testing will reveal the porphyrin levels in your body. There are several types of porphyrins, and each has an acceptable normal range. Anything above these ranges could signal an abnormally high amount of these chemicals.For blood samples, the amounts are written in micrograms per deciliter (mcg/dL) or nanomoles per litre (nmol/L). The acceptable ranges of porphyrins are:Total porphyrin levels: 0–1.0 mcg/dL (0–15 nmol/L)Coproporphyrin level: <2 mcg/dL (<30 nmol/L)Protoporphyrin level: 16–60 mcg/dL (0.28–1.07 µmol/L)Uroporphyrin level: <2 mcg/dL (<2.4 nmol/L)For 24-hour urine collections, the amounts are written as micrograms per 24-hour-period (mcg/24 hours). The reference ranges are:Coproporphyrin (CP) I: 0–24 mcg/24 hoursCoproporphyrin (CP) III: 0–74 mcg/24 hoursHeptacarboxylporphyrins (7–CP): 0–4 mcg/24 hoursHexacarboxylporphyrins (6-CP): 0–1 mcg/24 hoursPentacarboxylporphyrins (5-CP): 0–4 mcg/24 hoursUroporphyrins (UP): 0–24 mcg/24 hours
Understanding Your Results
Blood, urine, and stool testing will reveal the porphyrin levels in your body. There are several types of porphyrins, and each has an acceptable normal range. Anything above these ranges could signal an abnormally high amount of these chemicals.For blood samples, the amounts are written in micrograms per deciliter (mcg/dL) or nanomoles per litre (nmol/L). The acceptable ranges of porphyrins are:Total porphyrin levels: 0–1.0 mcg/dL (0–15 nmol/L)Coproporphyrin level: <2 mcg/dL (<30 nmol/L)Protoporphyrin level: 16–60 mcg/dL (0.28–1.07 µmol/L)Uroporphyrin level: <2 mcg/dL (<2.4 nmol/L)For 24-hour urine collections, the amounts are written as micrograms per 24-hour-period (mcg/24 hours). The reference ranges are:Coproporphyrin (CP) I: 0–24 mcg/24 hoursCoproporphyrin (CP) III: 0–74 mcg/24 hoursHeptacarboxylporphyrins (7–CP): 0–4 mcg/24 hoursHexacarboxylporphyrins (6-CP): 0–1 mcg/24 hoursPentacarboxylporphyrins (5-CP): 0–4 mcg/24 hoursUroporphyrins (UP): 0–24 mcg/24 hours
Blood, urine, and stool testing will reveal the porphyrin levels in your body. There are several types of porphyrins, and each has an acceptable normal range. Anything above these ranges could signal an abnormally high amount of these chemicals.
For blood samples, the amounts are written in micrograms per deciliter (mcg/dL) or nanomoles per litre (nmol/L). The acceptable ranges of porphyrins are:
For 24-hour urine collections, the amounts are written as micrograms per 24-hour-period (mcg/24 hours). The reference ranges are:
If your test results reveal porphyria, treatment will depend on the type. Some people are tested because of a family history of porphyria and may not be experiencing any symptoms of the condition.
Preventive measures can be taken to prevent an acute episode, or flare-up (when symptoms worsen), including:
Medications that may trigger flare-ups can include:
Research on the most effective way to manage the underlying process that causes the condition is still underway, but there are a few prescription medications to treat specific types of porphyria, including:
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Summary
A Word From Verywell
If you are diagnosed with porphyria, your doctor will explain what you need to know about the type that you have, including the options for treatment.
People with porphyria may have urine that is dark yellow to red or violet in color.
Your doctor will order the test for you if you have a family history of porphyria or if your symptoms match one of the subtypes of the condition.
The normal range of porphyrins depends on the specific porphyrin type being tested and the type of urine test that is being done. Your doctor will talk to you about the ranges that apply to your situation.
If you are unsure about your insurance coverage, you may want to call your health insurance company before being tested for porphyria.
What Does Orange Urine Mean?
10 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Ramanujam VS, Anderson KE.Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.Curr Protoc Hum Genet. 86:17.20.1-17.20.26. doi:10.1002/0471142905.hg1720s86National Institutes of Health.Enzyme.National Institutes of Health.Getting heme into hemoglobin.National Institutes of Health.Porphyrin tests.American Porphyria Foundation.About porphyria.National Institutes of Health.24-hour protein.Woolf J, Marsden JT, Degg T, et al.Best practice guidelines on first-line laboratory testing for porphyria.Annals of Clinical Biochemistry. 54(2):188-198. doi:10.1177/0004563216667965UCSF Benioff Children’s Hospital.24-hour urine protein.UCSF Health.Porphyrins blood test.LabCorp.Porphyrins, quantitative, 24-hour urine.
10 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Ramanujam VS, Anderson KE.Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.Curr Protoc Hum Genet. 86:17.20.1-17.20.26. doi:10.1002/0471142905.hg1720s86National Institutes of Health.Enzyme.National Institutes of Health.Getting heme into hemoglobin.National Institutes of Health.Porphyrin tests.American Porphyria Foundation.About porphyria.National Institutes of Health.24-hour protein.Woolf J, Marsden JT, Degg T, et al.Best practice guidelines on first-line laboratory testing for porphyria.Annals of Clinical Biochemistry. 54(2):188-198. doi:10.1177/0004563216667965UCSF Benioff Children’s Hospital.24-hour urine protein.UCSF Health.Porphyrins blood test.LabCorp.Porphyrins, quantitative, 24-hour urine.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Ramanujam VS, Anderson KE.Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.Curr Protoc Hum Genet. 86:17.20.1-17.20.26. doi:10.1002/0471142905.hg1720s86National Institutes of Health.Enzyme.National Institutes of Health.Getting heme into hemoglobin.National Institutes of Health.Porphyrin tests.American Porphyria Foundation.About porphyria.National Institutes of Health.24-hour protein.Woolf J, Marsden JT, Degg T, et al.Best practice guidelines on first-line laboratory testing for porphyria.Annals of Clinical Biochemistry. 54(2):188-198. doi:10.1177/0004563216667965UCSF Benioff Children’s Hospital.24-hour urine protein.UCSF Health.Porphyrins blood test.LabCorp.Porphyrins, quantitative, 24-hour urine.
Ramanujam VS, Anderson KE.Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.Curr Protoc Hum Genet. 86:17.20.1-17.20.26. doi:10.1002/0471142905.hg1720s86
National Institutes of Health.Enzyme.
National Institutes of Health.Getting heme into hemoglobin.
National Institutes of Health.Porphyrin tests.
American Porphyria Foundation.About porphyria.
National Institutes of Health.24-hour protein.
Woolf J, Marsden JT, Degg T, et al.Best practice guidelines on first-line laboratory testing for porphyria.Annals of Clinical Biochemistry. 54(2):188-198. doi:10.1177/0004563216667965
UCSF Benioff Children’s Hospital.24-hour urine protein.
UCSF Health.Porphyrins blood test.
LabCorp.Porphyrins, quantitative, 24-hour urine.
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