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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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