For Patients and FaMilies
The American Porphyria Expert Collaborative works closely with our partner organization, United Porphyrias Association (UPA) to ensure that porphyria patients and their family have access to accurate and reliable information about porphyria diagnosis and treatment.
You are not alone. We recommend visiting porphyria.org for comprehensive support and information, including:
One-to-one support from UPA’s Patient Navigator
Accurate, easy-to-understand information on diagnosis, treatment and care
Patient stories and advice on living day-to-day with porphyria
Education and connection opportunities
Frequently Asked Questions- Porphyria
FAQs for your type of porphyria
Porphyrias are often classed by their primary symptoms.
Acute Hepatic Porphyrias (AIP, HCP, VP & ADP) are characterized by neurovisceral attacks with severe pain. Some types (HCP & VP) may also have skin symptoms.
Cutaneous Porphyrias (CEP, EPP, HEP, PCT & XLP) have blistering and/or extreme pain on light-exposed skin.
Please visit the United Porphyrias Association website to learn about the porphyrias, including what causes symptoms and detailed information on each type of porphyria.
Please see the United Porphyrias Association website for information on how to diagnose the different types of porphyria.
There are many laboratory tests available for the porphyrias, and the correct tests to order depend on the type of porphyria the doctor suspects. It is best to have the testing performed by a laboratory that has expertise in the clinical aspects of porphyria and can provide a valid interpretation of the test results. If testing has been performed in laboratories other than porphyria laboratories, consultation with a porphyria expert is advised before a final diagnosis is made
Genetic Testing
DNA testing is an accurate and reliable method for determining if a person has a specific porphyria in addition to biochemical testing. If a change (called a pathogenic variant) in the DNA sequence is found in a specific porphyria-causing gene, the diagnosis of that porphyria is confirmed. DNA testing can be performed whether the patient is symptomatic or not. Once a change has been identified, DNA analysis can then be performed on other family members to determine if they have inherited that porphyria, thus allowing identification of individuals who can be counseled about appropriate management in order to avoid or minimize disease complications.
A VUS is when a change in a gene is detected, but the impact that change has on the gene’s function is unknown. Therefore, it is not certain whether that change is causing porphyria or not. More information on VUS’s can be found here.
Enzyme testing is a blood test to measure the activity level of a particular porphyria-specific enzyme, which is responsible for breaking down compounds in the body. This type of testing is not commonly done, and is not considered diagnostic for the porphyrias.
There are porphyria experts in the US and outside the US, including the porphyria centers in the APEX Collaborative. Information about other experts can be obtained by contacting the United Porphyrias Association.
If a porphyria is suspected, any physician can order the appropriate tests. Since interpretation of these results may be difficult, it is best for the physician or healthcare professional to consult with a porphyria expert for an accurate interpretation of the results and, if necessary, advice about additional testing, treatment, or prevention and precautionary measures. United Porphyrias Association can help arrange a consult for your physician with an expert.
If you have been diagnosed with a porphyria you may need to see different specialists to ensure all aspects of the condition are being managed properly.
If your genetic (DNA) testing results were negative and your doctor still suspects a porphyria, they should do biochemical testing.
Because all porphyrias are rare, it is very unlikely that more than one type of porphyria will occur in the same family, or that a person with one type of porphyria will have an additional type. However, people with more than one type of porphyria have been reported.
The liver is affected differently for each type of porphyria. Please refer to the disorder definitions page about your type of porphyria for more information on how the liver is involved. Although the different types of porphyria affect the liver differently, liver function tests should be performed routinely (usually annually).
These situations needs to be dealt with on an individual basis. Whether further testing is recommended depends on how the person was initially diagnosed and how the porphyria expert made the decision that porphyria is not the diagnosis. The results of biochemical testing are sometimes interpreted incorrectly by a physician who is not an expert in porphyria. Review of the biochemical testing results by a porphyria expert may determine that the results are not diagnostic. The results of DNA analysis may also contribute to the porphyria expert saying that it is unlikely that the patient has porphyria. DNA analysis is not perfect. The person may have a change in a part of the porphyria gene that is not analyzed by routine testing or the person has a change in a porphyria gene that was not analyzed. In the event that a diagnosis of porphyria is still suspected, then it is recommended that additional biochemical testing be done. Additionally, further testing may include DNA analysis for other porphyria genes (if only one or two were tested).
Yes, we are conducting research about the porphyrias. For additional information about our studies and how to volunteer to participate, please see the United Porphyrias Association website.
None of the porphyrias are contagious. However, for one type of porphyria, porphyria cutanea tarda (PCT), one of the major risk factors for development it is infection with the hepatitis C virus (HCV). A lesser risk factor for PCT is infection with the human immunodeficiency virus (HIV). These common viral infections are contagious.
The heme biosynthetic pathway is one of the key metabolic pathways that leads to the formation of heme from various intermediates (porphyrins and porphyrin precursors). Nearly all cells of the human body contain heme, which is essential to carry out many functions. Heme functions mainly as a small molecule that binds to proteins to form a large class of proteins called ‘hemoproteins.’ Hemoglobin is one such essential hemoprotein; it is found mainly in developing and adult red blood cells, where it functions to carry oxygen absorbed from air in the lungs to cells and tissue throughout the body. Hemoglobin also functions to carry carbon dioxide, a waste product formed by the metabolic functions of most cells, from these cells back to the lungs, where the carbon dioxide is released into the expired air and where the hemoglobin again picks up more oxygen.
Most of the heme that is made in the human body is made in developing red blood cells, to provide for the formation of heme for hemoglobin. In the erythropoietic porphyrias, the major site of the overproduction of heme precursors is the developing red blood cells, or the bone marrow, also called erythropoietic tissue. Thus, the name erythropoietic porphyria.
The other major organ where heme is made is the liver. When the major overproduction of heme precursors occurs in the liver, the disorder is called a hepatic porphyria.
It is not possible to provide a general or generic answer this question. This requires the thoughtful assessment of individual people by a board-certified specialist in general internal medicine, perhaps, in consultation with selected sub-specialists and porphyria experts.
This depends upon the specific type of porphyria and the severity. For most people, the life expectancy is similar to that of persons without porphyria. In the case of people with acute hepatic porphyrias, especially those with chronically high levels of the porphyrin precursors ALA and PBG, there are increased risks of the development of high blood pressure, chronic kidney disease, and, usually later in life (after age 50) the development of hepatocellular carcinoma (primary liver cell cancer).These conditions can be treated successfully, so people with acute porphyria should be screened on a regular basis for the development of these complications. If they are found, they should be treated and controlled.
People with EPP or XLP generally have a life expectancy similar to those without porphyria. An exception may be those who also develop liver failure. People with PCT have a life expectancy similar to those without porphyria. The life expectancy of people with CEP is not known.
For most people with porphyria, there is no contraindication to their having children.
Women with an acute porphyria are more prone to have acute attacks during pregnancy and in the post-partum period, and these may require prompt and careful treatment. Such pregnancies are best monitored by an ob-gyn specialist with expertise in high-risk pregnancies.
The risk for people with porphyria having a child also affected depends on the type of porphyria. Please see the United Porphyrias Association website for detailed information on the inheritance of each type of porphyria.
There are different treatment options available for acute and cutaneous porphyrias.
Acute Porphyrias
Treatment for acute attacks requiring hospitalization is hemin (panhematin) which is given intravenously. During hospitalization, people typically get one dose a day for about four days. In addition to hemin, people may need intravenous fluids, medications to control nausea, high blood pressure, and pain.
People who have recurrent (frequent) attacks may sometimes be recommended hemin infusions as an outpatient. This can be given on a regular schedule or when a patient is in early stages of an attack.
Givlaari (Givosiran) is a drug approved for people with acute hepatic porphyrias. It was tested in people with recurrent attacks (> 4 attacks/year) to prevent attacks. Givosiran has not been tested for the management of acute attacks in the hospital.
In addition to these, people with acute porphyria may develop chronic symptoms and may need medications to control pain, nausea, and other symptoms.
The choice of therapy may depend on the symptoms and should be made by the treating physician after a complete evaluation.
Cutaneous Porphyrias
There are different types of cutaneous porphyrias and the treatment varies by type.
EPP/XLP: The primary mode of symptom management for EPP/XLP patient has been sun avoidance. Medications such as beta-carotene, cysteine, vitamin C, and others have been tried however there is no clear evidence that any of them are effective.
Scenesse (Afamelanotide) was approved by the FDA for the treatment of EPP/XLP in adults. This drug is administered in the subcutaneous tissue (just below the skin) generally around the belly area through a large needle after numbing the area. The implant is administered once every two months and it dissolves by itself. It works by increasing the amount of melanin in the skin which makes the skin darker. Studies show that people with EPP/XLP taking this drug can spend longer time in the sun without pain. Currently there is no FDA approved treatment for children with EPP/XLP.
Other medications are currently in clinical trials for adolescents and adults with EPP/XLP.
CEP: CEP is an extremely rare disorder and the symptoms are very variable. Some people may require a bone marrow transplant, others may need ongoing blood transfusions and other supportive care. In addition, people should avoid the sun to prevent symptoms and blister formation which can be very severe.
PCT: PCT is one of the most common porphyrias. The primary treatment is phlebotomy (bloodletting) until the blisters disappear and the urine and blood tests normalize. In addition, there is an oral medication, chloroquine (or hydroxychloroquine), which can be used to control symptoms. In all cases of PCT, it is important to treat the underlying factor contributing to the disease manifestations such as hepatitis C, HIV, excessive alcohol consumption, etc.
It is important to remember that all people respond differently to medications and treatment should be individualized to the person.
Treatment during pregnancy should be administered only after careful evaluation of risks and benefits. For the acute porphyrias, hemin has been safely used during pregnancy and does not appear to impact the fetus.
Givlaari has not been tested in pregnant women and should not be used in people who are pregnant or planning a pregnancy.
Scenesse has also not been tested in pregnant women and should not be used during pregnancy.
For people with an acute porphyria, it is important to have a healthy, well-balanced diet and avoid fasting or dieting. Excessive carbohydrates are not recommended routinely. There are no specific recommendations for vitamins or supplements.
People with cutaneous porphyrias can have low vitamin D levels as they avoid sunlight. Daily vitamin D supplements are recommended to maintain bone health.
Additional Resources
The experts of The Porphyrias Consortium promote treating your health with the respect it deserves, and recommends looking to reliable sources for your medical information. Websites that are backed by scientific research are good places to start. Some suggestions include:
Additional medical information
Social Services Information
Medical Dictionaries