X-linked erythropoietic protoporphyria
Synonyms: X-linked dominant erythropoietic protoporphyria | X-linked dominant protoporphyria | XLDPP | XLPP
A rare disorder of porphyrin and heme metabolism characterized by infantile or childhood onset of severe cutaneous photosensitivity in affected males presenting as tingling burning and itching within minutes of light exposure often accompanied by swelling and redness of the skin. Pain may persist for hours or days after the initial reaction. Some patients show hepatic involvement and gallstone formation. Laboratory examination reveals increased levels of zinc- and metal-free protoporphyrin. The phenotype in heterozygous females ranges from asymptomatic to severe.
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 April 2024
Newly diagnosed with
X-linked erythropoietic protoporphyria?
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Advocacy Organizations
Canadian Association for Porphyria
We deliver evidence-based information and support to patients with porphyria, their families, health care providers and the general public across Canada. We help achieve standards and evidence-based comprehensive care for all people with porphyria throughout their lifespans.
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.
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
The United Porphyrias Association is committed to improving the quality of life of the porphyria patient community and is relentlessly focused on advancing disease awareness, research, and therapies in all the porphyrias.
Clinical Trials
For a list of clinical trials in this disease area, please click here.