Erythropoietic Protoporphyria: Spectrum of Three Cases

Bertrand, Janie; Clarke, Joe T.R.; Hanna, Dominique

doi:10.1177/120347541201600507

Cited by 2 publications

(2 citation statements)

References 13 publications

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“…The most common symptoms reported were burning, pain, swelling, tingling, itching, sensitivity to touch, warmth/heat sensation, blisters, redness/discoloration, and sensitivity to hot/cold, which is consistent with previous studies. 1 , 3 Though burning and pain were reported as distinct symptoms by some participants, consistent with previous studies and case reports, 5 , 28 , 29 others reported “burning pain”. It is likely patients interpret these concepts on a continuum when describing their symptoms.…”

Section: Discussionsupporting

confidence: 89%

Development and Content Validation of Novel Patient-Reported Outcome Measures to Assess Disease Severity and Change in Patients with Erythropoietic Protoporphyria: The EPP Impact Questionnaire (EPIQ)

Mathias,

Burke,

Colwell

et al. 2024

PROM

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Purpose Erythropoietic protoporphyria (EPP), a rare inherited disorder, presents in early childhood with severe, painful phototoxicity, with significant impacts on health-related quality of life (HRQoL). Previous studies have not captured all concepts important to patients. Therefore, this study sought to develop a novel, comprehensive, and content valid patient-reported outcome (PRO) measure to assess the efficacy of new therapies. Patients and Methods Qualitative interviews were conducted with EPP participants and clinical experts to obtain views on concepts relevant to patients. Results informed the development of novel PROs, which were debriefed during subsequent combined concept elicitation and cognitive debriefing interviews. Results Twenty-three interviews were conducted with 17 adults and 6 adolescents with EPP. Concept elicitation revealed that participants experienced many symptoms with significant variability. The most common were burning, pain, swelling, and tingling. Tingling was the most common prodromal symptom, while burning was the most bothersome, and pain was the worst full reaction symptom. Participants reported being negatively impacted in their ability to do daily activities, and social and emotional functioning. Many reported impacted ability to work and be productive at their job. Participants reviewed and completed the newly developed PRO measures assessing full reactions and ability to do activities, as well as items to assess severity and change in severity of prodromal symptoms, full reactions, and EPP overall. All measures were found to be comprehensive, clear, and relevant. Conclusion PRO measures are needed to assess important aspects of HRQoL and evaluate therapeutic response. These PRO measures are unique in assessing overall severity and change in EPP.

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Section: Discussionsupporting

confidence: 89%

Development and Content Validation of Novel Patient-Reported Outcome Measures to Assess Disease Severity and Change in Patients with Erythropoietic Protoporphyria: The EPP Impact Questionnaire (EPIQ)

Mathias,

Burke,

Colwell

et al. 2024

PROM

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“…Despite the severity of these symptoms, permanent cutaneous changes were almost indiscernible, which, although unusual, has been described in cases previously. 12 , 13 It follows that since patients with EPP have a risk of liver failure, hepatotoxic medications should also be avoided. Systemic cimetidine has had promising results in a few cases.…”

Section: Discussionmentioning

confidence: 99%

Delayed photosensitivity in a child with erythropoietic protoporphyria : a case report

Kiberd

Finlayson

2018

SAGE Open Medical Case Reports

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Erythropoietic protoporphyria (EPP) is a genetically inherited disease that causes protoporphyrin accumulation in erythrocytes, skin, liver, bile, and stool. Clinically this manifests as photosensitivity with painful, edematous cutaneous porphyria. We present the case of a four-year-old boy with a delayed photosensitivity reaction to sunlight. In the evening following sun exposure, he would develop swelling and a violaceous rash on the dorsal surface of his hands and occasionally the helix of his ears. His reactions were severe, requiring morphine on more than one occasion prior to diagnosis. He later developed waxy depressed scars on his nose and cheeks. On laboratory investigation, both total and free protoporphyrin were elevated. Photosensitivity in EPP usually occurs minutes after sun exposure, but our patient had significantly delayed reactions. Genetic testing revealed mutation in the FECH gene that confirmed the diagnosis of EPP. Although rare, presentations of photosensitivity in the pediatric population should be carefully evaluated.

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Erythropoietic Protoporphyria: Spectrum of Three Cases

Abstract: Erythropoietic protoporphyria should be suspected in any cases of childhood photosensitivity. Systemic complications are unusual. Mutation analysis confirms the diagnosis. Photoprotection is the cornerstone of treatment.

Cited by 2 publications

References 13 publications

Development and Content Validation of Novel Patient-Reported Outcome Measures to Assess Disease Severity and Change in Patients with Erythropoietic Protoporphyria: The EPP Impact Questionnaire (EPIQ)

Development and Content Validation of Novel Patient-Reported Outcome Measures to Assess Disease Severity and Change in Patients with Erythropoietic Protoporphyria: The EPP Impact Questionnaire (EPIQ)

Delayed photosensitivity in a child with erythropoietic protoporphyria : a case report

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