Inherited genetic late-onset erythropoietic protoporphyria: A systematic review of the literature

Yehonatan Noyman*, Yonatan Edel, Igor Snast, Shany Sherman, Ran Kaftory, Moshe Lapidoth, Daniel Mimouni, Emmilia Hodak, Assi Levi

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review


Background: Inherited genetic erythropoietic protoporphyria (EPP) is characterized by a photosensitive rash that emerges during infancy or early childhood. Acquired EPP can erupt at any age, even during adulthood, and is associated with hematological disorders. A third, less-studied type of EPP is also inherited but appears later in life (during adulthood). Purpose: To evaluate the characteristics of inherited genetic late-onset (IGLO) EPP. Methods: A systematic comprehensive search of the literature was conducted using PubMed, Google Scholar, ScienceDirect, and databases. Studies describing patients with IGLO EPP were included. Additionally, we present an index case of a patient, treated at our clinic in whom inherited genetic EPP was diagnosed at age 21 years. Results: The search yielded 1514 citations. Five publications were eligible for review. Along with our case, 7 patients (4 males) were included in the analysis. Mean age at disease onset was 34.2 years (range 18-69, median 30). Most patients presented with mild pruritus and rash in a photosensitive distribution. Mean level of free erythrocyte protoporphyrin IX (FEP) was 8.6 μmol/L. A mutant ferrochelatase gene (FECH) in trans to a hypomorphic FECH allele was found in 3 of the 4 patients who underwent genetic testing. Conclusion: We describe the distinct features of IGLO EPP. This work emphasizes that a diagnosis of inherited genetic EPP should not be ruled out in adults with new-onset photosensitive manifestations.

Original languageEnglish
Pages (from-to)374-379
Number of pages6
JournalPhotodermatology Photoimmunology and Photomedicine
Issue number5
StatePublished - Sep 2021


  • EPP
  • adult-onset
  • erythropoietic protoporphyria


Dive into the research topics of 'Inherited genetic late-onset erythropoietic protoporphyria: A systematic review of the literature'. Together they form a unique fingerprint.

Cite this