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. Online ahead of print.

Abstract

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) 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 EPP and XLP. A systematic literature review was conducted, and reviewed among sub-committees of experts, divided by topic. Consensus on guidelines was reached within each sub-committee 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 non-pharmacologic 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, 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.

Keywords: EPP; X-linked protoporphyria; XLP; consensus; cutaneous porphyria; diagnosis; erythropoietic protoporphyria; evidence-based; guidelines; management; photodermatoses; protoporphyria.

Publication types

  • Review