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

Porphyrias Consortium of the Rare Diseases Clinical Research Network, Marshall Mazepa

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1227-1237
Number of pages11
JournalJournal of the American Academy of Dermatology
Volume89
Issue number6
DOIs
StatePublished - Aug 2022

Bibliographical note

Funding Information:
Funding sources: The Porphyrias Consortium (U54DK083909) is part of Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), NCATS. This consortium is funded through collaboration between NCATS and NIDDK . Dr Dickey has received funding from a NIAMS K23 grant 1K23AR079586-01 .

Funding Information:
Funding sources: The Porphyrias Consortium (U54DK083909) is part of Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), NCATS. This consortium is funded through collaboration between NCATS and NIDDK. Dr Dickey has received funding from a NIAMS K23 grant 1K23AR079586-01.

Publisher Copyright:
© 2022 American Academy of Dermatology, Inc.

Keywords

  • EPP
  • X-linked protoporphyria
  • XLP
  • consensus
  • cutaneous porphyria
  • diagnosis
  • erythropoietic protoporphyria
  • evidence-based
  • guidelines
  • management
  • photodermatoses
  • protoporphyria

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