Friday, May 19, 2017

NIH Updated Info on the Porphyrias 3/22/17

 https://rarediseases.info.nih.gov/diseases/10353/porphyria

Porphyrias are a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the body’s organs. Major types include ALAD deficiency porphyria, acute intermittent porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, hereditary coproporphyria, porphyria cutanea tarda, and variegate porphyria. The most common type of porphyria is porphyria cutanea tarda. Some of the symptoms of porphyria include blistering, swelling, and itching when the skin is exposed to sun. Other symptoms may also include pain, numbness or tingling, vomiting, constipation, and intellectual disability. There is no known cure for porphyria, but the various types have different courses of treatment, and may include bone marrow transplant.[1]

Most porphyrias are inherited conditions with either an autosomal dominant or autosomal recessive pattern of inheritance. However, some forms of porphyria can be caused by environmental factors such as infections or exposures to certain prescription drugs. Porphyrias caused by environmental factors are called sporadic or acquired porphyria.[2][3]
Last updated: 3/22/2017

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
Signs and SymptomsApproximate number of patients (when available)Help
Abnormal urinary colorVery frequent
(present in 80%-99% of cases)
Abnormality of the heme biosynthetic pathwayVery frequent
(present in 80%-99% of cases)
Abdominal painFrequent
(present in 30%-79% of cases)
Abnormal blistering of the skinFrequent
(present in 30%-79% of cases)
Abnormality of skin pigmentationFrequent
(present in 30%-79% of cases)
AnorexiaFrequent
(present in 30%-79% of cases)
Chest painFrequent
(present in 30%-79% of cases)
ConstipationFrequent
(present in 30%-79% of cases)
Cutaneous photosensitivityFrequent
(present in 30%-79% of cases)
DiarrheaFrequent
(present in 30%-79% of cases)
FatigueFrequent
(present in 30%-79% of cases)
HypertensionFrequent
(present in 30%-79% of cases)
Nausea and vomitingFrequent
(present in 30%-79% of cases)
PruritusFrequent
(present in 30%-79% of cases)
Sleep disturbanceFrequent
(present in 30%-79% of cases)
Cerebral palsyOccasional
(present in 5%-29% of cases)
Dupuytren contractureOccasional
(present in 5%-29% of cases)
FeverOccasional
(present in 5%-29% of cases)
HallucinationsOccasional
(present in 5%-29% of cases)
ParesthesiaOccasional
(present in 5%-29% of cases)
SeizuresOccasional
(present in 5%-29% of cases)

Last updated: 3/10/2017

Many of the signs and symptoms of porphyria are similar to those of other more common diseases. Also, because porphyria is rare, many doctors have not seen cases of the disorder before, making it more difficult to diagnosis. Because porphyria's signs and symptoms usually aren't distinctive, laboratory tests are required to make a definitive diagnosis and to determine which type of porphyria is involved.[4] If your doctor suspects porphyria, he or she may recommend the following tests:[4][5]
  • Urine test. If you have a form of acute porphyria, a urine test may reveal elevated levels of two substances: porphobilinogen and delta-aminolevulinic acids, as well as other porphyrins.
  • Blood test. If you have a form of cutaneous porphyria, a blood test may show an elevation in the level of porphyrins in the liquid part of your blood (plasma).
  • Stool sample test. Analysis of a stool sample may reveal elevated levels of some porphyrins that may not be detected in urine samples. This test may help your doctor determine your specific type of porphyria.
Genetic testing may also be used to confirm the diagnosis.[5]
Last updated: 11/4/2016

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.  

    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 studying or have studied Porphyria. 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.
    • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

      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

        Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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

              • Genetics Home Reference (GHR) contains information on Porphyria. This website is maintained by the National Library of Medicine.
              • MayoClinic.com provides information about porphyria. Click on the link to access this information.
              • 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 Digestive Diseases Information Clearinghouse (NDDIC), part of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), offers information on this condition. Click on the link to view information on 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.
              • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

                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.
                • The 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 Porphyria. Click on the link to view a sample search on this topic.


                  Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
                  • I would like to be tested for porphyria. How is this condition diagnosed? Is genetic testing available? See answer
                  • What can you tell me about acute intermittent porphyria and Chester porphyria? See answer


                  1. Porphyria. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). February 26, 2014; http://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/porphyria/Pages/facts.aspx. Accessed 5/26/2015.
                  2. Porphyria. MedlinePlus. September 24, 2014; http://www.nlm.nih.gov/medlineplus/porphyria.html. Accessed 5/26/2015.
                  3. Porphyria. Genetics Home Reference. July 2009; http://ghr.nlm.nih.gov/condition=porphyria. Accessed 5/26/2015.
                  4. Porphyria. MayoClinic.com. May 20, 2014; http://www.mayoclinic.com/health/porphyria/DS00955/METHOD=print. Accessed 11/4/2016.
                  5. Tests for Porphyria diagnosis. American Porphyria Foundation. http://www.porphyriafoundation.com/testing-and-treatment/testing-for-porphyria/tests-for-porphyria-diagnosis. Accessed 11/4/2016.
                                                               "Remember....Research is your Key to a cure"

                  No comments:

                  Post a Comment

                  Important EPP Survey URGENT ASAP!!!

                  Important EPP Survey Dear EPP Community, As you know, the diagnosis of EPP is often delayed for many years. Researchers at the Icah...