Ultraviolet A phototest positivity is associated with higher free erythrocyte protoporphyrin IX concentration and lower transferrin saturation values in erythropoietic protoporphyria

Giovanni Genovese, Carlo Alberto Maronese, Chiara Moltrasio, Roberta Piccinno, Dario Antonio Marletta, Giacomo De Luca, Giovanna Graziadei, Francesca Granata, Elena Di Pierro, Maria Domenica Cappellini, Angelo Valerio Marzano

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Erythropoietic protoporphyria (EPP) is a rare disorder of heme biosynthesis hallmarked by early-onset photosensitivity and mainly due to defective ferrochelatase activity leading to increased erythrocyte protoporphyrin IX (PPIX) levels. Evidence regarding the relationship between erythrocyte PPIX concentration and photosensitivity is limited. Methods: To investigate the relationship between free erythrocyte PPIX (FEP) concentration; routine laboratory tests, particularly iron metabolism biomarkers; and ultraviolet (UV) A/visible light phototesting findings, 20 genetically confirmed EPP and one XLPP treatment-naive patients were included in our study. They underwent UVA and visible light phototesting. On the same day, blood samples were collected for measurement of FEP, serum iron, transferrin, transferrin saturation, and ferritin, 25-hydroxyvitamin D, and liver enzyme levels. Results: Median FEP concentration at the time of phototesting was 57.50 (IQR: 34.58-102.70) μg/g of Hb. UVA and visible light phototesting were positive in 9 (42.9%) and 8 (38.1%) patients, respectively. Median FEP concentration was significantly higher in UVA phototest–positive patients than in those negative (64.37 [IQR: 57.45-121.82] vs 45.35 [IQR: 24.53-74.61] μg/g of Hb, respectively; P =.04486). Similarly, UVA photosensitive individuals had significantly lower median serum iron levels (61.5 [IQR: 33.5-84] μg/dL vs 109 [IQR: 63.25-154] μg/dL, respectively; P =.01862) and transferrin saturation values (15.005 [IQR: 7.0775-18.41] % vs 29.645 [IQR: 17.8225-34.3575] %; P =.0109) than those negative. Conclusions: Our study demonstrates that UVA phototest positivity is associated with higher FEP concentration and lower transferrin saturation and serum iron concentration in EPP.

Original languageEnglish
JournalPhotodermatology Photoimmunology and Photomedicine
DOIs
Publication statusAccepted/In press - 2021

Keywords

  • erythropoietic protoporphyria
  • photosensitivity
  • phototesting
  • porphyria
  • protoporphyrin IX
  • UVA phototesting

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Radiology Nuclear Medicine and imaging
  • Dermatology

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