Synonyms: EPP
Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood erythrocytes and tissues and cutaneous manifestations of photosensitivity.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2025
Newly diagnosed with
Autosomal erythropoietic protoporphyria?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Canadian Association for Porphyria
Awareness - raising awareness of porphyria and its impacts, Advocacy - helping get timely access to appropriate treatments, Information and Support - providing one on one and group support and resources to people who have or are seeking a porphyria diagnosis
Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
National Association of Porphyrias Serbia
Our mission is to support, educate, and advocate for porphyria patients in Serbia. We strive to raise awareness, improve diagnostic access, secure essential therapies, and collaborate nationally and internationally to enhance the quality of life for those affected by porphyrias.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The British Porphyria Association
The BPA is committed to advocating for, supporting and educating porphyria patients, relatives and medical professionals, so as to improve the quality of life for those living with the different types of porphyria. We promote disease awareness and the advancement of research into new therapies.
United Porphyrias Association
We are committed to improving the quality of life of the porphyria patient community and are relentlessly focused on advancing disease awareness, research, and therapies in all the porphyrias.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.