Diagnosis

Many symptoms of porphyria are like those of other more common diseases. Because porphyria is rare, it can be difficult to diagnose.

Lab tests are needed to make a diagnosis of porphyria and to determine which form of the condition you have. The types of tests depend on the type of porphyria your health care provider suspects. Tests include a combination of blood, urine or stool testing to measure porphyrin levels. Other tests may be needed. Genetic tests may be helpful to confirm the diagnosis and determine the type of porphyria you have.

Talking with a genetic counselor can give you information about genetic tests and the risk of porphyria for your children. If you have porphyria, genetic testing and counseling also may be recommended for family members.

Treatment

Treatment depends on the type of porphyria you have and how severe your symptoms are. Treatment includes medicine. It also includes identifying and avoiding symptom triggers, and relieving symptoms when they occur.

Avoiding triggers

To avoid triggers:

  • Don't use medicines known to trigger acute attacks. Ask your health care provider for a list of safe and unsafe medicines, including herbal supplements and over-the-counter products.
  • Don't use recreational or illicit drugs and avoid heavy drinking.
  • Avoid fasting and dieting that involves severe calorie restriction.
  • Don't smoke.
  • Minimize sun exposure. When you're outdoors, wear protective clothing. Also use an opaque blocking sunscreen, such as one with zinc oxide or titanium dioxide. Use an SPF of at least 30 when you expect a short or limited amount of sun exposure. For longer times outdoors, use an SPF of 50. When indoors, use window filters.
  • Treat infections and other illnesses promptly.
  • Take steps to reduce emotional stress.
  • Talk to your health care provider about options to prevent premenstrual attacks.

Acute porphyrias

Treatment of acute porphyria attacks focuses on providing fast treatment of symptoms and preventing complications. Treatment may include:

  • Injections of hemin (Panhematin), a medicine that is a form of heme, to limit your body's production of porphyrins.
  • Receiving fluid that contains sugar, also called glucose, through a vein, or sugar taken by mouth, if able. This is done to make sure you get enough carbohydrates.
  • A stay in the hospital for treatment of symptoms such as severe pain, vomiting, dehydration or breathing problems.

Givosiran (Givlaari) is a monthly shot for adults with acute hepatic porphyria. In hepatic porphyrias, which include acute intermittent porphyria, the lack of the enzymes needed to make heme occurs in the liver. Givosiran can reduce the number of porphyria attacks. Discuss safety information and potential serious side effects with your health care provider.

Cutaneous porphyrias

Treatment of cutaneous porphyrias focuses on reducing exposure to triggers such as sunlight. It also includes reducing the amount of porphyrins in the body to help relieve symptoms. Reducing porphyrins may include:

  • Regularly scheduled blood draws to reduce the iron in your body, which decreases porphyrins. This process is called phlebotomy.
  • Taking a medicine used to treat malaria, usually hydroxychloroquine (Plaquenil). This can help absorb excess porphyrins and help your body get rid of them more quickly than usual. The medicine is generally used only in people who can't tolerate phlebotomy.
  • A dietary supplement to replace low vitamin D levels caused by avoiding sunlight.

High doses of beta carotene are a common treatment for erythropoietic protoporphyria.

A treatment option only approved for erythropoietic protoporphyria is afamelanotide (Scenesse), a medicine that increases melanin in the skin. This protects skin from sunlight and allows more time in the sun without a painful skin reaction. An implant is placed under the skin that slowly releases the medicine. Talk with your health care provider about safety information and any potential serious side effects.

Lifestyle and home remedies

If you have porphyria:

  • Learn what could trigger symptoms. Talk to your health care provider about the type of porphyria you have. Learn about possible symptom triggers and how to avoid them.
  • Inform your health care providers. Tell all your providers that you have porphyria. This is important because sometimes treatments, medicines, illness or surgery can trigger porphyria symptoms.
  • Wear a medical alert bracelet or necklace. Have information about your condition placed on a medical alert bracelet or necklace. Always wear it.

Preparing for your appointment

If you have symptoms of porphyria, you're likely to start by seeing your primary care provider. However, because porphyria can be difficult to diagnose, you may be referred to a specialist in blood disorders (hematologist) or skin conditions (dermatologist).

Here's some information to help you get ready, and what to expect during your appointment.

What you can do

Before your appointment, make a list of:

  • Any symptoms you're experiencing, including any that may seem unrelated to the reason for your appointment.
  • Bring photos of any rashes to the appointment, in case you don't have a rash on the day of your appointment.
  • Key personal information, including any major stresses or recent life changes. Give as much information as you can about previous symptoms and what may have triggered them.
  • All medicines, vitamins, herbs or other supplements that you're taking, including doses.
  • Questions to ask your health care provider.

Questions to ask may include:

  • What's the most likely cause of my symptoms?
  • What are other possible causes?
  • What kinds of tests do I need?
  • What treatments do you suggest?
  • What are the alternatives to the main approach that you're suggesting?
  • I have another health condition. How can I best manage these together?
  • Are there any precautions or restrictions I should follow?
  • Do I need genetic testing? If so, should my family members also be tested?
  • Are there any brochures or other printed material that I can have? What websites do you suggest?

Feel free to ask other questions during your appointment.

What to expect from your doctor

Your health care provider is likely to ask you several questions. These may include:

  • When did your symptoms start?
  • Have your symptoms been constant or do they come and go?
  • What, if anything, seems to make your symptoms better?
  • What, if anything, seems to make your symptoms worse?
  • Do any family members have similar symptoms?

Be ready to answer questions so that you can spend time on areas that are important to you.

April 05, 2023

Living with porphyria?

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