Porphyria source information

Each of the eight enzymes involved in porphyrin synthesis can be defective and can produce a distinctive form of porphyria. The diagnosis of porphyria can be obscure and the symptoms severe. New treatments are emerging to manage the wide constellation of symptoms.

Disclosure forms provided by the authors are available with the full text of this article at NEJM.org.

Dr. Bissell reports receiving fees for participating in clinical trials from Clinuvel Pharmaceuticals and Alnylam Pharmaceuticals and receiving consulting fees from Recordati Rare Diseases and Mitsubishi Tanabe Pharma; Dr. Anderson, receiving grant support from Clinuvel Pharmaceuticals, Alnylam Pharmaceuticals, and Recordati Rare Diseases; and Dr. Bonkovsky, receiving grant support and consulting fees from Clinuvel Pharmaceuticals, Alnylam Pharmaceuticals, Recordati Rare Diseases, and Mitsubishi Tanabe Pharma. No other potential conflict of interest relevant to this article was reported.

We thank our colleagues in the Porphyrias Rare Disease Clinical Research Network (U54 DK083909) for helpful discussion and comments.
Source Information

From the Department of Medicine, Division of Gastroenterology and Porphyria Center, University of California, San Francisco, San Francisco (D.M.B.); the Departments of Preventive Medicine and Community Health and Internal Medicine, Division of Gastroenterology and Hepatology, University of Texas Medical Branch, Galveston (K.E.A.); and the Department of Gastroenterology, Wake Forest School of Medicine, Winston-Salem, NC (H.L.B.).

Address reprint requests to Dr. Bissell at the University of California, 513 Parnassus Ave., Box 0538, San Francisco, CA 94143, or at [email protected].