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What's UP Doc? Protoporphyria Guidelines

  • Dec 2, 2022
  • EPP/XLP, What's UP Doc


What's UP Doc? Is a monthly column where we feature a patient question along with a response from a member of the UPA Scientific Advisory Board.

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Are there guidelines for managing erythropoietic protoporphyria (EPP) and x-linked porphyria (XLP)?

UPA Scientific Advisory Board members are also members of the NIH-sponsored Porphyrias Consortium. Together, a team of these experts recently developed and published guidelines to manage EPP and XLP titled Evidence-Based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-Linked porphyria. These guidelines were highlighted this week by NIH!

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare, inherited, metabolic disorders characterized by build-up of porphyrins. Porphyrins are substances that bind metals to form complexes, such as the iron found in red blood cells. The hallmark symptoms include phototoxicity (severe pain during light exposure) and photosensitivity (skin hyperreactivity to light). Due to the rarity of EPP and XLP, physicians often have limited expertise with these disorders, which can lead to delays in diagnosis.

In this study, researchers developed evidence-based consensus guidelines for the diagnosis, monitoring, and management of EPP and XLP. First, the team conducted a systematic literature review. Next, they divided topics among subcommittees of experts to reach a consensus on guidelines.

The new guidelines discuss biochemical and genetic testing for diagnosis, prevention of symptoms, management of acute phototoxicity, and pharmacologic (drug or medication) and non-pharmacologic treatment options. Researchers also discuss management, including the importance of ongoing monitoring, guidance on pregnancy and surgery, and the safety of other therapies. Authors note that these guidelines can aid in early diagnosis and management of these disorders.

Dickey AK, Naik H, Keel SB, Levy C, Beaven SW, Elmariah SB, Erwin AL, Goddu RJ, Hedstrom K, Leaf RK, Kazamel M, Mazepa M, Philpotts LL, Quigley J, Raef H, Rudnick SR, Saberi B, Thapar M, Ungar J, Wang B, Balwani M; Porphyrias Consortium of the Rare Diseases Clinical Research Network. Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria. J Am Acad Dermatol. 2022 Aug 27:S0190-9622(22)02611-1. doi: 10.1016/j.jaad.2022.08.036. Epub ahead of print. PMID: 36041558.

The publication will soon be widely available!


Related Content

Patient Day Feature: EPP & XLP Guidelines

The diagnosis and treatment of rare conditions like EPP and XLP can be confusing for doctors and patients alike. Join Dr. Amy Dickey as she walks us through the recommendations from the new consensus guidelines for diagnosing and managing protoporphyrias.

Erythropoietic Protoporphyria (EPP) and X-Linked Porphyria (XLP)