The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > Hepatoerythropoietic Porphyria
Hepatoerythropoietic Porphyria (HEP)
Disease Category: Porphyrias
A rare, inherited, metabolic disorder characterized by profound deficiency of the enzyme uroporphyrinogen decarboxylase (UROD), which allows for build-up of porphyrins. Porphyrins are substances that bind metals to form complexes, such as the iron found in red blood cells. A child must inherit genetic mutations from both parents (autosomal recessive) for disease manifestation. The hallmark symptom is cutaneous photosensitivity (skin hyperreactivity to light), resulting in painful, blistering skin lesions that may become infected, scar, and/or develop discoloration. Other symptoms include hypertrichosis (excessive hair growth) on affected skin, mild anemia (low red blood cell level), and hepatosplenomegaly (enlarged liver and spleen).
Research groups studying this disease
The porphyrias are a group of rare metabolic diseases that may present in childhood or adult life and are due to deficiencies of enzymes in the heme biosynthetic pathway. Porphyrias have various symptoms depending on the type, but these can range from neurological symptoms to sun sensitivity. See the descriptions of each type to get more information. The natural history of these disorders is not well described and it is not known why some patients are more severe than others. Therefore, the purpose of this long-term follow-up study is to collect a large group of patients with the different types of porphyria and to provide a better understanding of the natural history of these disorders. The hope is that this information will help in developing new forms of treatment. The research aims are: 1. To study the prevalence of specific indicators of disease severity. To study the effects on quality of life and health of various porphyrias. 2. To determine the relationships between disease severity and various biological characteristics, genetic information, and environmental factors.
Committed to improving the quality of life of the porphyria patient community, relentlessly focused on advancing disease awareness, research, and therapies in all the porphyrias.