Abstract
BackgroundErythropoietic protoporphyria (EPP) and X‐linked Protoporphyria (XLP) are rare photodermatoses presenting with severe phototoxicity. Although anecdotally, providers who treat EPP patients acknowledge their life‐altering effects, tools that fully capture their impact on quality of life (QoL) are lacking.MethodsAdult patients with EPP/XLP were given four validated QoL tools: the Patient Reported Outcomes Measurement Information System 57 (PROMIS‐57), the Hospital Anxiety and Depression Scale (HADS), the Illness Perception Questionnaire Revised (IPQR), and an EPP‐Specific tool. All patients received the PROMIS‐57 while the HADS, IPQR, and EPP‐Specific tools were introduced at a later date. Associations between responses and clinical phenotypes were explored.ResultsTwo hundred and two patients were included; 193 completed PROMIS‐57, 104 completed IPQR, 103 completed HADS, and 107 completed the EPP‐Specific tool. The IPQR showed that patients strongly believed EPP/XLP had a negative impact on their lives. Mean scores in anxiety and depression domains of both HADS and PROMIS‐57 were normal; however, anxiety scores from HADS were borderline/abnormal in 20% of patients. The EPP‐Specific tool revealed a decreased QoL in most patients. The PROMIS‐57 showed that 21.8% of patients have clinically significant pain interference. Several tool domains correlated with measures of disease severity, most being from the PROMIS‐57.ConclusionsImpaired QoL is an important consequence of EPP/XLP. PROMIS‐57 was most sensitive in evaluating impaired QoL in EPP/XLP. Further research is needed to compare the effectiveness of it for assessing response to treatment.
Highlights
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare, inherited photodermatoses that result in overproduction of erythrocyte protoporphyrin-IX
Of the 202 patients, 104 completed the Illness Perception Questionnaire Revised (IPQR), 103 completed the Hospital Anxiety and Depression Scale (HADS), 107 completed the EPP-Specific tool, and 193 completed the PROMIS-57; 101 patients completed all of the tools
Our study examines four validated quality of life (QoL) tools to determine which best captures this
Summary
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare, inherited photodermatoses that result in overproduction of erythrocyte protoporphyrin-IX (ePPIX). They present with childhood-onset, severe, painful phototoxicity.[1,2,3]. Management is limited to sunprotection, as there are currently no FDA-approved therapies Due to these severe phototoxic reactions, patients typically develop a conditioned behavior to avoid sunlight, which greatly limits their daily activities.[5,7] effects on quality of life (QoL) are not well described, and the tools most effective for assessing this are not defined. Erythropoietic protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare photodermatoses presenting with severe phototoxicity. Further research is needed to compare the effectiveness of it for assessing response to treatment
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