Porphyrin Tests

What are Porphyria Tests?

Porphyria tests are a group of diagnostic tests used to detect and diagnose porphyrias, a group of inherited diseases caused by a genetic defect in the body’s ability to process the heme molecule.

What is Porphyria?

Porphyria is a group of inherited disorders, passed down by families, which can lead to acute or chronic symptoms. It can affect the skin, the central nervous system, the mucous membranes, and other organs.

Symptoms of Porphyria

Signs and symptoms of Porphyria vary depending on the type and cause. The most common symptoms include:

  • Photosensitivity - Sensitivity to sunlight is the most common symptom.
  • Abdominal pain
  • Nausea & vomiting
  • Mental confusion
  • Anxiety
  • Chronic fatigue
  • Depression
  • Muscle weakness
  • Diarrhea
  • Seizures
  • Mood swings

When to do Porphyria Tests?

Porphyria tests should be performed if you have a family history of the disorder or show any signs of porphyria. Porphyria tests can help your doctor diagnose the type of how serious your porphyria is.

Preparation for Porphyria Tests

Your doctor may recommend some tests to help diagnose porphyria. Tests may include a complete blood count (CBC) to check for red and white cell levels, liver function tests, and urine tests.

Types of Porphyria Tests

The following are the different types of porphyria tests available:

  • Ammonia Test: This test measures the levels of ammonia in the blood.
  • Urine Test: This test measures the levels of porphyrins in the urine.
  • Stool Test: This test checks for abnormal levels of porphyrins in the stool.
  • Heme Profile: This test measures the levels of heme in the red blood cells.
  • Genetic Testing: This test looks for mutations in the genes responsible for the production of heme.

Risks Associated with Porphyria Tests

Porphyria tests are generally considered safe, with no known risks or side effects. However, some people may experience minor discomfort during the tests.

Why are Porphyria Tests Important?

Porphyria tests are important in helping diagnose porphyrias, as the signs and symptoms of porphyrias can be similar to those of other conditions. The tests can help your doctor determine the type and severity of the disorder and develop a treatment plan.