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NIH on EPP!

Erythropoietic protoporphyria


Información en español


Other Names:
 
Erythrohepatic protoporphyria; EPP; Heme synthetase deficiency; See More
Categories:
 
This disease is grouped under:
 

Erythropoietic protoporphyria (EPP) is a type of porphyria. Porphyrias are caused by an abnormality in the heme production process. Heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver. Erythropoietic protoporphyria is caused by pathogenic variants (mutations) in the FECH gene which lead to an impaired activity of ferrocheletase (FECH), an important enzyme in heme production. This results in the build-up of protoporphyrin in the bone marrow, red blood cells, blood plasma, skin, and eventually liver. Build up of protoporphyrin can cause extreme sensitivity to sunlight, liver damage, abdominal pain, gallstones, and enlargement of the spleen.[1] Inheritance is autosomal recessive.[1][2] 

Treatment includes avoiding sun and UV light exposure, vitamin D supplements, creams for tanning, and using protective clothing. A medication known as Afamelanotide (Scenesse®), a synthetic α-melanocyte stimulating hormone (a melanocyte is a  skin cell that produces melanin, a  skin-darkening pigment) analog was approved for treatment of EPP by the European Medicines Agency in 2014 and is awaiting approval in United States by the FDA. This medication increases pain-free sun exposure and has improved quality of life in those with EPP. Liver complications may be treated with cholestyramine and other porphyrin absorbents , plasmapheresis,  a procedure where the liquid part of the blood, or plasma, is separated from the blood cells, and intravenous heme are sometimes beneficial. Liver transplantation may be required.[3][2]

Another type of porphyria, known as X-linked protoporphyria, is caused by a variation in  the ALAS2 gene and have similar symptoms to erythropoietic protoporphyria when males are affected by EPP.[3]
Last updated: 4/11/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Showing 1-5 of 16 | 
Medical TermsOther Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal circulating porphyrin concentration0010472 
Cutaneous photosensitivity
Photosensitive skin
more  ]
0000992 
Erythema0010783 
Pruritus
Itching
more  ]
0000989 
5%-29% of people have these symptoms
Cholelithiasis
Gallstones
0001081 
Showing 1-5 of 16 | 
Last updated: 4/1/2019

Erythropoietic protoporphyria is caused by mutations in the FECH gene.[3]
Last updated: 6/7/2016

In most cases, EPP is caused by mutations in the ferrochelatase (FECH) gene. Another type of protoporphyria caused by mutations in the delta-aminolevulinic acid synthase-2 (ALAS2) gene is known as X-linked protoporphyria (XLP). XLP have almost the same symptoms as the EPP in males, but appears to have a higher risk for liver problems than does EPP.[4][2][1]
Last updated: 4/11/2018

EPP is inherited in an autosomal recessive manner. In most cases, affected individuals have one severe (loss-of-function) mutation that is inherited from one parent, and another weak (low-expression) mutation that is inherited from the other parent. In a small number of cases, an affected individual has two loss-of-function mutations.[4][3] When 2 carriers of an autosomal recessive condition have children, each child has a: 
  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% (1 in 4) chance to be unaffected and not be a carrier 
 
Last updated: 4/11/2018

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

    Management Guidelines

    • Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.  
    • The American Porphyria Foundation offers a document that includes information about porphyria, types, testing, and treatment with Panhematin®.  Click the "document" link above to view these guidelines.

      In the absence of liver failure, people with erythropoietic protoporphyria have normal life expectancies.[1] It is recommended to check the levels of the  erythrocyte protoporphyrin (free and zinc-chelated), hematologic indices, and iron profile once a year. Liver function should also be monitored every six to 12 months. Vitamin D 25-OH levels should be monitored in all patients whether or not they are receiving supplements.[3]
      Last updated: 4/11/2018

      If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
      If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
      You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

      Healthcare Resources


        Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
        Conditions with similar signs and symptoms from Orphanet
        Differential diagnosis includes phototoxic drug reactions, hydroa vacciniforme, solar urticaria, contact dermatitis, angioedema and, in some cases, other types of porphyria (see these terms).
        Visit the Orphanet disease page for more information.

        Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

        Clinical Research Resources

        • ClinicalTrials.gov lists trials that are related to Erythropoietic protoporphyria. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies. 

          Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

          Patient Registry

          • The Porphyrias Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Porphyrias Consortium has a registry for patients who wish to be contacted about clinical research opportunities. 

            For more information on the registry see: http://rarediseasesnetwork.epi.usf.edu/registry/index.htm

            Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

            Organizations Supporting this Disease

              Social Networking Websites

              • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

                Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

                Financial Resources

                • The HealthWell Foundation provides financial assistance for underinsured patients living with chronic and life-altering conditions. They offer help with drug copayments, deductibles, and health insurance premiums for patients with specific diseases. The disease fund status can change over time, so you may need to check back if funds are not currently available.

                  These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

                  Where to Start

                  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
                  • Genetics Home Reference (GHR) contains information on Erythropoietic protoporphyria. This website is maintained by the National Library of Medicine.
                  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. 
                  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.

                    In-Depth Information

                    • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
                    • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
                    • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
                    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
                    • PubMed is a searchable database of medical literature and lists journal articles that discuss Erythropoietic protoporphyria. Click on the link to view a sample search on this topic.

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