Most porphyrias are
- 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).
Stoolsample 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.
- 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.
- 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.
- 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
- 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 Living With
- 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.
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- 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.
- 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.
Related Diseases Related Diseases
GARD Answers GARD Answers
- 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
- 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.
- Porphyria. MedlinePlus. September 24, 2014; http://www.nlm.nih.gov/medlineplus/porphyria.html. Accessed 5/26/2015.
- Porphyria. Genetics Home Reference. July 2009; http://ghr.nlm.nih.gov/condition=porphyria. Accessed 5/26/2015.
- Porphyria. MayoClinic.com. May 20, 2014; http://www.mayoclinic.com/health/porphyria/DS00955/METHOD=print. Accessed 11/4/2016.
- 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.