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Diagnosis

If your physician believes you are exhibiting symptoms of porphyria, you will require testing. This can involve tests of your blood, urine, and/or a sample of your bowel movements. Blood tests include measures of the amount of a chemical in your body known as “PBG”, iron levels, assessment for infection, and assessment for liver disease.

Genetic testing may also be performed to identify if an abnormal gene is the cause of your porphyria. Moreover, genetic testing can help identify if you have a gene that causes an abundance of iron that can be stored within the body.

 Treatment

It is important to recognize that porphyria is not are not a common condition. Depending on your physician’s experience, he or she may not know a lot about the condition. This is why it is important the physician educates themselves about it. Furthermore, because each specific porphyria has a slightly varied treatment protocol, it is important for your clinician to know about this.

Each of the porphyrias is treated differently.

  • Acute porphyrias: These will be treated with medication so that your body will stop producing the chemicals that are causing your symptoms. Also avoidance of triggering medications.
  • Cutaneous porphyrias: The primary method of treating these symptoms is to protect your skin from sun exposure. This includes staying outside of the sun until your porphyrin levels are back to normal. However, if you do need to be outside, use protection such as hats, gloves, sunglasses and sunscreen.

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