Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria.

Erythropoietic protoporphyria and X-linked protoporphyria are rare genetic photodermatoses. Limited expertise with these disorders among physicians leads to diagnostic delays. Here, we present evidence-based consensus guidelines for the diagnosis, monitoring, and management of erythropoietic protoporphyria and X-linked protoporphyria. A systematic literature review was conducted, and reviewed among subcommittees of experts, divided by topic. Consensus on guidelines was reached within each subcommittee and then among all members of the committee. The appropriate biochemical and genetic testing to establish the diagnosis is reviewed in addition to the interpretation of results. Prevention of symptoms, management of acute phototoxicity, and pharmacologic and nonpharmacologic treatment options are discussed. The importance of ongoing monitoring for liver disease, iron deficiency, and vitamin D deficiency is discussed with management guidance. Finally, management of pregnancy and surgery and the safety of other therapies are summarized. We emphasize that these are multisystemic disorders that require longitudinal monitoring. These guidelines provide a structure for evidence-based diagnosis and management for practicing physicians. Early diagnosis and management of these disorders are essential, particularly given the availability of new and emerging therapies.
Competing Interests: Conflict of interest AKD received research grants from Disc Medicine and consulting fees from Alnylam Pharmaceuticals. HN has consulted for Mitsubishi Tanabe and Disc Medicine. SK received research grants from Mitsubishi and Alnylam and consults for Disc Medicine. CL received research grants from Mitsubishi and Alnylam and consults for Disc medicine and Mitsubishi. ALE has received honoraria from Alnylam Pharmaceuticals and consults for Mitsubishi Tanabe Pharma America and Disc Medicine. MK received consulting fees and honoraria from Alnylam Pharmaceuticals. SRR is a consultant for Alnylam Pharma. MT serves as a consultant for Alnylam pharmaceuticals and Disc Medicine. BW received research grants from Mitsubishi Tanabe and Alnylam and consults for Disc Medicine and Recordati Rare Diseases. MB received clinical trial support from Alnylam and Mitsubishi Tanabe and has consulted for Alnylam, Recordati Rare Diseases and Disc Medicine.
(Copyright © 2022 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.)