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The information contained in the Organizational Database (ODB) is provided for informational purposes only. There is no implied endorsement by NORD. NORD does not promote or endorse participation in any specific organization. The information is subject to change without notice. Every effort is made to ensure that the details for each entry are as current as possible.

Erythropoietic Protoporphyria Research and Education Fund

a/k/a: EPPREF

Address

Channing Lab
Harvard Medical School
Boston, MA 02115

Phone

617-525-8249

800 Number

800-638-6294

TDD

617-732-6458

Email Address

mmmathroth@rics.bwh.harvard.edu

Website

http://www.brighamandwomens.org/Patients_Visitors/patientresources/patienteducation/eppref/

The Erythropoietic Protoporphyria Research and Education Fund (EPPREF) is a non-profit organization dedicated to disseminating knowledge about erythropoietic protoporphyria (EPP) to affected individuals, physicians, and the general public; operating and maintaining a referral service for individuals with EPP; and assisting physicians in any way necessary to bring about optimal care for affected individuals. Erythropoietic protoporphyria is a rare, inherited, metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). Due to abnormally low levels of FECH, excessive amounts of protoporphyrin accumulate in the plasma, red blood cells, and liver. Symptoms may include hypersensitivity of the skin to sunlight and some types of artificial light (photosensitivity); itchiness and redness of the skin and/or a burning sensation after exposure to light, particularly on the skin of the hands, arms, and face; and/or, in rare cases, complications related to liver and gallbladder function. Established in 1978, the EPPREF offers information to physicians, maintains a registry, and publishes articles concerning EPP within the peer-reviewed medical literature.

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