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Porphyria: Tips for Working With a Healthcare Provider

Tips on finding a porphyria specialist, diagnostic tests and what to ask during your appointment.

Porphyria: Tips for Working With a Healthcare Provider

Porphyrias are metabolic disorders related to the buildup of natural chemical compounds called porphyrins, which the body makes during the production of heme (a molecule that is a main component of red blood cells and needed to transport oxygen throughout the body). There are different types of porphyrias, and different types cause different symptoms—some affect the nerves, some affect the skin, some affect the gastrointestinal tract and some affect all of these areas of the body. Symptoms typically flare up, or attack, before subsiding. Symptoms can be severe, can require hospitalization, and can be life-threatening in some circumstances.

There is no cure for porphyrias, but there are effective diagnostic tests and treatments available. As with many other health conditions, one of the most important steps in managing a porphyria is working with a healthcare provider. But because porphyrias are rare, not all healthcare providers are experienced in treating these conditions, and it may take some work to find one who has experience.

Finding a healthcare provider
There are porphyria specialists and porphyria clinics, and it is recommended that people who have porphyria (or who need to be tested to see if they have porphyria) should seek care from a specialist or clinic. However, for some patients, seeing a clinic or a specialist may prove difficult—for example, if a specialist or clinic is not located close to where you live. If this is the case, The American Porphyria Foundation (APF) recommends establishing a good relationship with a primary care physician in your area, who can oversee treatment and consult with a porphyria specialist or porphyria clinic. A primary care physician is also essential to managing your overall health.

Getting the tests you need
There are only a handful of labs in the United States that the APF recommends for the analysis needed to diagnose porphyria and the type of porphyria you have—which is another reason it is recommended that you work with a porphyria specialist, either directly or through your primary care physician. Various blood, urine or stool tests may be used to diagnose the types of porphyria, and genetic testing is sometimes recommended to look for known gene mutations that cause the disorder.

Before and after your appointment
As with any appointment with a healthcare provider, it helps to prepare beforehand. Make lists of symptoms, any medications you are taking and any questions or concerns you have. Find out if you need any test results or documents related to your medical history sent over before your appointment. It can also be helpful to take notes during your appointment and to write down a summary of what you discussed after your appointment.

Questions for your healthcare provider
If you’re unsure about what to ask or discuss during your appointment, the following questions can serve as a starting point for your conversation:

  • What type of porphyria do I have? Depending on where you are in the diagnostic process, you may need some additional diagnostic tests to confirm your diagnosis and/or determine what type of porphyria you have.
  • What is the cause of this type of porphyria? Most porphyrias are inherited disorders, meaning they are passed on through genetics. Others are acquired disorders (though people who acquire them have a genetic predisposition).
  • Will my children have porphyria? If you are concerned about whether your children will be predisposed to porphyria, your healthcare provider can advise you on genetic testing that may help answer that question.
  • What lifestyle changes do I need to make? You may need to make changes to your lifestyle to avoid triggers and better manage porphyria. These can include quitting smoking, abstaining from alcohol consumption, avoiding certain medications and avoiding sun exposure. Diet may be another change—fasting, calorie restriction and diets low in carbohydrates can trigger porphyria attacks. Always consult with your healthcare provider before making changes to your diet.
  • How is porphyria treated? Treating porphyria is a combination of monitoring the condition, avoiding triggers and addressing attacks when they occur. You’ll need to work with your healthcare provider to come up with a plan for managing porphyria.
  • What do I do if I have an attack? If you experience an attack, you will require treatment. You’ll work with your healthcare provider to come up with a plan to follow in the event of an attack.

Medically reviewed in March 2020.

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