Porphyrin Test Purpose, Procedure, Result Interpretation and Your Test Result Meaning

Porphyrins are natural chemicals in the body that help form many important substances in the body. One of these is hemoglobin, the protein in red blood cells that carries oxygen in the blood.

Porphyrin tests measure the level of porphyrins in your blood, urine, or stool. Porphyrins are chemicals that help make hemoglobin, a type of protein in your red blood cells. Hemoglobin carries oxygen from your lungs to the rest of your body.

Also Known as	Uroporphyrin, Coproporphyrin, Protoporphyrin, Delta-aminolevulinic Acid, ALA, Porphobilinogen, PBG, Free Erythrocyte Protoporphyrin, FEP,Porphyrin, Urine Uroporphyrin, Urine Coproporphyrin, Porphyria – Uroporphyrin, Porphyrin Tests
Test Purpose	This test will quantitate porphyrins and porphobilinogen. This can be used to find various forms of porphyria.
Test Preparations	If a neurologic porphyria is suspected, the sample should be collected during an acute attack.
Test Components
Specimen	A random or 24-hour urine collection (urine must be protected from light during collection)
Stability Room	10 Hours
Stability Refrigerated	4 Days
Stability Frozen	3 Weeks
Method
Download Report	Download Report

Why Get Tested:

To help diagnose and sometimes to monitor porphyrias

When To Get Tested:

When you have symptoms that suggest a neurologic porphyria (e.g., abdominal pain, tingling or numbness in the hands or feet, muscular weakness and/or alterations in thought or mood) or a cutaneous porphyria (e.g., redness, blistering, or scarring of sun-exposed skin).

Signs And Symptoms

1. The following factors may initiate an acute attack:
   1. Some of the drugs.
   2. Smoking may initiate the attack.
   3. Use of alcohol.
   4. By some surgical procedures.
   5. Emotional upset.
   6. In females by the menstrual cycle.
   7. In females during pregnancy.
   8. Some time infection may give rise to attack.
   9. The acute attack may start with anxiety, restlessness, and difficulty in sleeping.
2. The patient may develop a painful abdomen, and this may be very severe.
3. There may be nausea and vomiting.
4. The patient may develop constipation.
5. There may be tachycardia and hypertension.
6. Urine is dark or reddish.
7. Rarely there may be sudden death, which may be due to cardiac arrhythmias.

What happens during porphyrin testing?

Sample required: Blood, feces, or urine sample

Process:

• Insertion of a needle into the arm vein (blood)
• Rectal swab or examination of stool (feces)
• Urine test (urine)

Preparation required: None

• Blood Test
  • A health care professional will take a blood sample from a vein in your arm, using a small needle. After the needle is inserted, a small amount of blood will be collected into a test tube or vial. You may feel a little sting when the needle goes in or out. This usually takes less than five minutes.
• 24-Hour Urine Sample
  • You will collect all your urine during a 24-hour period. For this test, your health care provider or laboratory will give you a container and specific instructions on how to collect your samples at home. Be sure to follow all instructions carefully. This 24-hour urine sample test is used because the amounts of substances in urine, including porphyrin, can vary throughout the day. So collecting several samples in a day may give a more accurate picture of your urine content.
• Random Urine Test
  • You can provide your sample at any time of day, with no special preparations or handling needed. This test is often done in a health care provider’s office or a lab.
• Stool Test (also called protoporphyrin in stool)
  • You will collect a sample of your stool and place it in a special container. Your health care provider will give you instructions on how to prepare your sample and send it to a lab.

Normal Results

Source 1

Porphobilinogen

• Fresh urine or 24 hours sample = Negative
• Spectrophotometric method (24 hours of urine)
  • <2.0 mg/L
  • <3.4 mg/day
  • ≤2.0 mg/day
    • To convert into SI unit x 4.42 = µmol/L

Porphyrins 

•  Urine fresh random = Negative
• Total porphyrin (whole blood) = <60 µg/dL

Total porphyrins

• 20 to 320 nmol/L (urine)

Uroporphyrin fraction = <33 µg/24 hours urine

= 17 to 52 µg/24 hours urine

Coproporphyrins fraction = <183 µg/24 hours urine

= <294 µg/24 hours urine

= 52 to 163 µg/24 hours urine

Source 2

Urine 24 hours or fresh:

1. Negative or trace.
2. Total porphyrin:
   • Male = 8 to 149 mcg/24 hours of the urine
   • Female = 3 to 78 mcg/24 hours of the urine
3. Uroporphyrin:
   • Male = 4 to 46 mcg/24 hours of urine
   • Female = 3 to 22 mcg/24 hours of the urine
4. Coproporphyrin:
   • Male = <96 mcg/24 hours of the urine
   • Female = <60 mcg/24 hours of the urine
5. Porphobilinogen = 0 to 2 mg /24 hours of the urine
   1. another source <1 mg/24 hour of the urine
6. δ-Aminolevulinic acid = 1.5 to 7.5 mg/day of the urine

Source 3

• Porphobilinogen 
  • Random  specimen = 0 to 2.0 mg/L
  • 24 hours sample = 0 to 1.5 mg/24 hours
• Δ-aminolevulinic acid 
  • Random specimen = 0. to 4.5 mg/L
  • 24 hour specimen = 1.5 to 7.5 mg/24 hours

Test	µg/24 hours  Urine	µg/24 hours  Urine
	Male	Female
Random sample	Negative	Negative
Uroporphyrin	8 to 44	4 to 22
Coproporphyrin	10 to 109	3 to 56
Heptacarboxyporphyrin	0 to 12	0 to 9
Pentacarboxy porphyrin	0 to 4	o to 3
Hexacarboxyporphyrin	0 to 5	0 to 5

TYPE OF PORPHYRIA	ALA and PBG	URINE PORPHYRINS	FECAL PORPHYRINS	RBC PORPHYRINS
Acute intermittent porphyria	Increased	Increased URO*	Normal	Normal
Variegate porphyria	Increased	Increased COPRO	Increased PROTO, COPRO	Normal
Hereditary coproporphyria	Increased	Increased COPRO	Increased COPRO	Normal
ALA dehydratase deficiency	Increased ALA only	Increased COPRO		Increased PROTO
Porphyria cutanea tarda	Normal	Increased URO, 7-carboxyl	Increased Isocoproporphyrin	Normal
Erythropoietic Protoporphyria	Normal	Normal	Increased PROTO	Increased PROTO
Congenital erythropoietic porphyria	Normal	Increased URO, COPRO	Increased COPRO	Increased URO, COPRO

Why do I need a porphyrin test?

You may need a porphyrin test if you have symptoms of porphyria. There are different symptoms for the different types of porphyria.

Symptoms of acute porphyria include:

• Abdominal pain
• Constipation
• Nausea and vomiting
• Red or brown urine
• Tingling or pain in the hands and/or feet
• Muscle weakness
• Confusion
• Hallucinations

Symptoms of cutaneous porphyria include:

• Oversensitivity to sunlight
• Blisters on skin exposed to sunlight
• Redness and swelling on exposed skin
• Itching
• Changes in skin color

What Abnormal Results Mean

Abnormal results may be due to:

• Liver cancer
• Hepatitis
• Lead poisoning
• Porphyria (several types)

---

Possible References Used

---