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 diagnose.
Lab tests are required to make a definitive diagnosis of porphyria and to determine which form of the disease you have. Different tests are performed depending on the type of porphyria your doctor suspects. Tests include a combination of blood, urine or stool testing.
More tests may be needed to confirm the type of porphyria you have. Genetic testing and counseling may be recommended in the family of a person with porphyria.
Treatment depends on the type of porphyria you have and the severity of symptoms. Treatment includes identifying and avoiding symptom triggers and then relieving symptoms when they occur.
Avoiding triggers may include:
- Not using medications known to trigger acute attacks. Ask your doctor for a list of safe and unsafe drugs.
- Not using alcohol or recreational drugs.
- Avoiding fasting and dieting that involves severe calorie restriction.
- Not smoking.
- Taking certain hormones to prevent premenstrual attacks.
- Minimizing sun exposure. When you're outdoors, wear protective clothing, and use an opaque blocking sunscreen, such as one with zinc oxide. When indoors, use window filters.
- Treating infections and other illnesses promptly.
- Taking steps to reduce emotional stress.
Treatment of acute porphyria attacks focuses on providing rapid treatment of symptoms and preventing complications. Treatment may include:
- Injections of hemin, a medication that is a form of heme, to limit the body's production of porphyrins
- Intravenous sugar (glucose), or sugar taken by mouth, if able, to maintain an adequate intake of carbohydrates
- Hospitalization for treatment of symptoms, such as severe pain, vomiting, dehydration or problems breathing
In 2019, the FDA approved givosiran (Givlaari) as a monthly injection for adults with acute hepatic porphyria to reduce the number of porphyria attacks. But it’s important to discuss safety information and potential serious side effects with your doctor. These include but are not limited to nausea, liver and kidney toxicity, and a small risk of anaphylaxis.
Treatment of cutaneous porphyrias focuses on reducing exposure to triggers such as sunlight and reducing the amount of porphyrins in your body to help eliminate your symptoms. This may include:
- Periodically drawing blood (phlebotomy) to reduce the iron in your body, which decreases porphyrins.
- Taking a drug used to treat malaria — hydroxychloroquine (Plaquenil) or, less often, chloroquine (Aralen) — to 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.
- A dietary supplement to replace vitamin D deficiency caused by avoidance of sunlight.
Lifestyle and home remedies
If you have porphyria:
- Learn what could trigger symptoms. Talk to your doctor about the type of porphyria you have and become familiar with possible symptom triggers and ways to avoid them.
- Inform your health care providers. Tell all your health care providers that you have porphyria. This is particularly important because sometimes treatments, medications or surgery can trigger porphyria symptoms.
- Wear a medical alert bracelet or necklace. Have information about your condition inscribed on a medical alert bracelet or necklace, and always wear it.
Coping and support
Porphyria is considered a chronic illness, as the underlying cause can't be cured. However, porphyria usually can be managed by treatment and lifestyle changes so that you can live a full and healthy life.
Preparing for your appointment
If you have signs and 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 doctor who specializes in blood disorders (hematologist).
Here's some information to help you get ready, and what to expect from your doctor.
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
- Key personal information, including any major stresses or recent life changes
- All medications, vitamins, herbs or other supplements that you're taking, including dosages
- Questions to ask your doctor
Questions to ask your doctor may include:
- What's the most likely cause of my symptoms?
- What are other possible causes?
- What kinds of tests do I need?
- What's the best course of action?
- What are the alternatives to the primary 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 be screened?
- Are there any brochures or other printed material that I can have? What websites do you recommend?
Don't hesitate to ask other questions during your appointment.
What to expect from your doctor
Your doctor is likely to ask you several questions. Be ready to answer them to spend time on areas you want to focus on. Some questions your doctor may ask include:
- When did you first begin experiencing symptoms?
- Have your symptoms been continuous or occasional?
- What, if anything, seems to improve your symptoms?
- What, if anything, appears to worsen your symptoms?
- Do any family members have similar symptoms?