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Tests and diagnosis & Treatments and drugs

Tests and diagnosis

By Mayo Clinic Staff
Many signs and symptoms of porphyria are similar to those of other more common diseases. Also, because porphyria is rare, it can be more difficult to diagnosis. Lab tests are required to make a definitive diagnosis of porphyria and to determine which form of the disease you have.
If your doctor suspects porphyria, he or she may recommend these tests:
  • Urine test. If you have a form of acute porphyria, a urine test may reveal elevated levels of two substances: porphobilinogen (por-foe-bih-LIN-uh-jen) and delta-aminolevulinic (uh-me-no-lev-yoo-LIN-ik) acids, as well as other porphyrins.
  • Blood test. If you have a form of cutaneous porphyria, a blood test may show an elevation in the level of porphyrins in your blood plasma.
  • Stool sample test. Analysis of a stool sample may reveal elevated levels of some porphyrins that may not be detected in urine samples. This test may help your doctor determine your specific type of porphyria.
More tests may be needed to confirm the type of porphyria you have. Genetic testing may be suggested in the family of a person with porphyria.

    Treatments and drugs

    By Mayo Clinic Staff
    Treatment depends on the type of porphyria you have and is directed at relieving symptoms.

    Acute porphyrias

    Treatment of acute porphyrias focuses on providing rapid treatment of symptoms and preventing complications. This may require hospitalization in severe cases. Treatment may include:
    • Stopping medications that may have triggered symptoms
    • Medication to control pain, nausea and vomiting
    • Prompt treatment of infections or other illness that may have caused symptoms
    • Intravenous sugar (glucose) or sugar taken by mouth, if able, to maintain an adequate intake of carbohydrates
    • Intravenous fluids to combat dehydration
    • Injections of hemin, a medication that is a form of heme, to limit the body's production of porphyrin

    Cutaneous porphyrias

    Treatment of cutaneous porphyrias focuses on reducing exposure to sunlight and the amount of porphyrins in your body to help eliminate your symptoms. This may include:
    • Drawing blood (phlebotomy). Drawing a certain amount of blood from one of your veins reduces the iron in your body, which decreases porphyrins. You may need to have a phlebotomy repeated at regular intervals before cutaneous porphyria goes into remission.
    • Medication. Drugs used to treat malaria — hydroxychloroquine (Plaquenil) or, less often, chloroquine (Aralen) — can absorb excess porphyrins and help your body get rid of them more quickly than usual. These medications are generally used only in people who can't tolerate a phlebotomy.
    • Beta carotene. Long-term treatment of cutaneous porphyrias may include daily doses of prescription beta carotene. Beta carotene may increase your skin's tolerance to sunlight. Your doctor can tell you what kind of beta carotene will work best for porphyria photosensitivity.
    • Reducing or eliminating triggers. Triggers, such as certain medications or too much sunlight, which activated the disease, should be reduced or removed if possible, with guidance from your doctor.
    • Vitamin D. Supplements may be recommended to replace vitamin D deficiency caused by avoidance of sunlight.
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