The burden of EPP: Putting numbers to the realities of daily life

Summing UP
Written By United Porphyrias

Summing UP features the latest porphyria research in easy-to-understand summaries that have been reviewed and approved by the UPA's Scientific Advisory Board of porphyria experts.

The Burden of Erythropoietic Protoporphyria (EPP): Results From the EPP Life Impact and Genetic Health Trajectory (LIGHT) Study

Published in The Journal of Dermatology
July 2025

Full Article

This study asked adolescents and adults with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP) how sunlight affects their skin, daily life, emotions, school and work, and healthcare use. The goal was to put numbers to what many already live every day.

Who participated?

  • 197 people total participated: 164 adults (average age 45) and 33 adolescents (average age 14).

  • The large majority of participants had EPP (compared to XLP) and lived in the U.S. or Canada.

  • Many had waited 5 years or more for a diagnosis.

What did the research entail?

Participants completed online questionnaires in May–July 2024. The survey covered topics like symptoms, emotional well-being, school and work impact, and doctor or ER visits. It used validated research tools plus questions specifically designed for EPP and XLP.

What were the key findings?

  • Symptoms can start fast: About half of adults felt early warning signs (including tingling, warmth, itching, sensitivity to touch, and burning) within 10 minutes of sunlight.

  • Pain can be severe: Average reaction pain was ~7.5/10, lasting 2–6 days.

  • Reactions are common: 67% of adults and 88% of teens had at least one reaction in the past year.

  • Emotional impact: High levels of frustration, anxiety, and isolation were reported.

  • Life disruption: Many skipped outdoor chores, exercise, and social activities.

  • Healthcare use: Adults averaged 8 doctor visits and 5.5 ER visits annually.

  • What did participants want from treatment? More time in the sun without pain.

What does this mean for patients and families?

You are not alone if you plan your day around sunlight. The study confirms how quickly symptoms can start, how intense pain can be, and how much EPP shapes choices at school, work, and home. Emotional impacts are significant, and seeking support through counseling or peer groups can help.


This study was funded by Disc Medicine.

 

CONTENT REVIEWED BY UNITED PORPHYRIAS ASSOCIATION SCIENTIFIC ADVISORY BOARD

 

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