Molecular genetics and metabolism · 2026
The psychosocial impact of erythropoietic protoporphyria in childhood: a guide for parents.
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Gjestson Kaleb, McGinty Madeleine, Williams Lacey R, Leppert Craig, Wheeden Kristen, Naik Hetanshi
Аннотация
INTRODUCTION: Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP), collectively referred to here as EPP, are rare inherited disorders of heme biosynthesis characterized by severe cutaneous photosensitivity. EPP imposes significant psychosocial challenges, including activity limitations and social isolation.
PURPOSE: This study aimed to characterize how the psychosocial challenges of EPP evolve across developmental stages by eliciting perspectives from parents of children with EPP.
METHODS: We conducted a cross-sectional qualitative survey study. Eligible participants were recruited through patient advocacy organizations. Ninety-five responses were received, and 60 were included in the analysis. Children of participants spanned five age groups, from toddler to adult, with most respondents being parents of adult children. Survey domains included understanding of EPP, school, family dynamics, social events and situations, and emotional impacts. Responses were analyzed using content analysis.
RESULTS: Findings suggest that EPP presents distinct psychosocial challenges across the lifespan, ranging from comprehension difficulties and educational barriers in young children, to social conformity pressures and frustration with limitations in adolescents. Upon reaching adulthood, individuals with EPP often develop adaptive coping strategies. Results suggest EPP also affects broader family dynamics. Participants highlighted the benefits of mental health support and access to physicians with EPP-specific knowledge. Participants advised parents to build resilience in their children, reframe what it means to live with EPP, and seek necessary support.
CONCLUSIONS: These findings support several recommendations: 1) developmentally-appropriate anticipatory guidance; 2) routine psychosocial screening; 3) multidisciplinary care promoting psychological and educational support; and 4) structured transition planning addressing self-management skills and career considerations.
PURPOSE: This study aimed to characterize how the psychosocial challenges of EPP evolve across developmental stages by eliciting perspectives from parents of children with EPP.
METHODS: We conducted a cross-sectional qualitative survey study. Eligible participants were recruited through patient advocacy organizations. Ninety-five responses were received, and 60 were included in the analysis. Children of participants spanned five age groups, from toddler to adult, with most respondents being parents of adult children. Survey domains included understanding of EPP, school, family dynamics, social events and situations, and emotional impacts. Responses were analyzed using content analysis.
RESULTS: Findings suggest that EPP presents distinct psychosocial challenges across the lifespan, ranging from comprehension difficulties and educational barriers in young children, to social conformity pressures and frustration with limitations in adolescents. Upon reaching adulthood, individuals with EPP often develop adaptive coping strategies. Results suggest EPP also affects broader family dynamics. Participants highlighted the benefits of mental health support and access to physicians with EPP-specific knowledge. Participants advised parents to build resilience in their children, reframe what it means to live with EPP, and seek necessary support.
CONCLUSIONS: These findings support several recommendations: 1) developmentally-appropriate anticipatory guidance; 2) routine psychosocial screening; 3) multidisciplinary care promoting psychological and educational support; and 4) structured transition planning addressing self-management skills and career considerations.