Prospective observational pilot study of quantitative light dosimetry in erythropoietic protoporphyria

Dickey, Amy; Rebeiz, Lina; Raef, Haya S.; Leaf, Rebecca Karp; Elmariah, Sarina B.; Naik, Hetanshi; Anderson, Karl E.; Conley, Jared; Iyasere, Christiana; Zhao, Sophia; Birkenfeld, Judith; Arroyo‐Gallego, Teresa; Wheeden, Kristen; Ducamp, Sarah; Christiani, David C.; Fleming, Mark D.; Kochevar, Irene E.

doi:10.1016/j.jaad.2022.11.036

Cited by 5 publications

(3 citation statements)

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“…11,12 After providing written consent, participants completed a REDCap survey that was distributed by email to patients with EPP who had expressed an interest in a study of EPP light dosimetry. 13 Race and ethnicity were self-reported. Skin tone was also self-reported by selecting skin color from a scale from 1 (lightest) to 12 (darkest) according to these instructions: "Make sure your computer screen is not tinted and you are in a well-lit room.…”

Section: Methodsmentioning

confidence: 99%

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Light-Related Cutaneous Symptoms of Erythropoietic Protoporphyria and Associations With Light Sensitivity Measurements

et al. 2023

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ImportanceErythropoietic protoporphyria (EPP) is a rare and underdiagnosed genetic disease characterized by painful sensitivity to light. A better understanding and characterization of its light-induced cutaneous symptoms may aid in the identification of EPP in patients.ObjectivesTo describe the cutaneous symptoms of erythropoietic protoporphyria (EPP) and to determine if these symptoms are associated with the degree of light sensitivity.Design, Setting, and ParticipantsThis was a cross-sectional study of adolescent and adult (≥15 years) patients with EPP across the US conducted by a single academic hospital via a remotely administered survey, measurements of light sensitivity by light dosimetry and by text message symptom assessments. Data analyses were conducted from November 2020 to April 2022.ExposuresSunlight exposure.Main Outcomes and MeasuresSelf-reported symptoms and association with measured light sensitivity.ResultsThe study sample consisted of 35 patients with EPP (mean [SD] age, 39.1 (15.5) years; 21 [60%] female; 14 [40%] male; 35 [100%] White individuals). The patients’ median [range] skin tone was 3.0 (1.0-8.0), based on self-reporting from 1 (lightest) to 12 (darkest). A total of 24 participants completed the light dosimeter measurements. Phototoxic reactions were characterized by pain (97%; 34 patients), burning (97%; 34), tingling (97%; 34), pruritus (83%; 29), allodynia (89%; 31), improvement of symptoms with cold (89%; 31), achiness (24%; 12), fatigue (46%; 16), mild swelling (83%; 29), severe swelling (63%; 22), erythema (51%; 18), petechiae (40%; 14), skin cracking (43%; 15), scabbing (46%; 16), scarring (66%; 23), and other chronic skin changes (40%; 14). Patients with EPP reported that their hands, feet, and face were most sensitive to light and that their shoulders and legs were least sensitive; 25.7% (9 patient) reported no chronic skin changes, and 5.7% (2 patients) reported never having had any visible symptoms. None of these findings varied with the degree of light sensitivity except that lower overall light sensitivity was associated with lower ranked sensitivity of the neck and arms.Conclusions and RelevanceThe findings of this cross-sectional study suggest that patients with EPP have distinctive cutaneous symptoms that may aid in identification of this underdiagnosed disease. Characteristic EPP symptoms include light-induced cutaneous burning pain and occasional swelling, particularly over the hands, with a prodrome of pruritus and paresthesias. Minimal skin changes or the absence of visible skin changes during reactions to light, including lack of erythema, do not exclude an EPP diagnosis nor suggest low EPP disease burden.

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Section: Methodsmentioning

confidence: 99%

“…After providing written consent, participants completed a REDCap survey that was distributed by email to patients with EPP who had expressed an interest in a study of EPP light dosimetry . Race and ethnicity were self-reported.…”

Section: Methodsmentioning

confidence: 99%

Light-Related Cutaneous Symptoms of Erythropoietic Protoporphyria and Associations With Light Sensitivity Measurements

et al. 2023

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“…In the hours after the photodynamic reaction perivascular oedema containing PpIX are formed in the skin with increased photosensitivity lasting for days 2,7 . This phenomenon is called photopriming 2,8,9 . X‐linked protoporphyria (XLP) is a disease very similar to EPP as it is also caused by the accumulation of PpIX in erythrocytes 1 .…”

Section: Introductionmentioning

confidence: 99%

Phototesting in erythropoietic protoporphyria trials: A systematic review

Heerfordt

Philipsen

Lerche

et al. 2023

Experimental Dermatology

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Severe skin pain when exposed to long wave ultraviolet radiation or visible light is the main symptom of erythropoietic protoporphyria (EPP). Treatment options for EPP are inadequate and new treatments are needed but hampered by the lack of valid efficacy outcomes. Phototesting with well‐defined illumination of the skin can be performed reliably. We aimed to provide an overview of phototest procedures used to evaluate EPP treatments. Systematic searches of Embase, MEDLINE and the Cochrane Library were performed. Searches identified 11 studies using photosensitivity as efficacy outcome. The studies used eight different phototest protocols. Illuminations were performed with a filtered high‐pressure mercury arc, or a xenon arc lamp equipped with monochromator or filters. Some used broadband, others narrowband illumination. In all protocols phototests were performed on the hands or the back. Endpoints were minimal dose required to induce either first symptom of discomfort, erythema, urticaria or intolerable pain. Other endpoints were change in erythema intensity or diameter of any type of flare after exposure compared to before. In conclusion, protocols displayed extensive variability in illumination set‐up and evaluation of phototest reactions. Implementation of a standardized phototest method will allow more consistent and reliable outcome evaluation in future therapeutic research of protoporphyric photosensitivity.

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Protection against visible light by dihydroxyacetone in erythropoietic protoporphyria

Heerfordt

Philipsen

Lerche

et al. 2023

Photodiagnosis and Photodynamic Therapy

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Prospective observational pilot study of quantitative light dosimetry in erythropoietic protoporphyria

Cited by 5 publications

References 5 publications

Light-Related Cutaneous Symptoms of Erythropoietic Protoporphyria and Associations With Light Sensitivity Measurements

Light-Related Cutaneous Symptoms of Erythropoietic Protoporphyria and Associations With Light Sensitivity Measurements

Phototesting in erythropoietic protoporphyria trials: A systematic review

Protection against visible light by dihydroxyacetone in erythropoietic protoporphyria

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