Quantifying the impact of symptomatic acute hepatic porphyria on well‐being via patient‐reported outcomes: Results from the Porphyria Worldwide Patient Experience Research (POWER) study. Issue 1 (18th October 2022)

• Record Type: Journal Article
• Authors: Dickey, Amy; Wheeden, Kristen; Lyon, Desiree; Burrell, Sue; Hegarty, Sean; Falchetto, Rocco; Williams, Edrin R.; Barman‐Aksözen, Jasmin; DeCongelio, Marc; Bulkley, Alison; Matos, Joana E.; Mnif, Tarek; Mora, Jordanna; Ko, John J.; Meninger, Stephen; Lombardelli, Stephen; Nance, Danielle
• Is Part Of: JIMD reports. Volume 64:Issue 1(2023)
• Page Start: 104
• Page End: 113
• Publication Date: 2022-10-18
• Subjects: acute hepatic porphyria -- acute intermittent porphyria -- acute porphyria -- AHP -- patient‐reported outcomes -- survey; Metabolism, Inborn errors of -- Periodicals; Metabolism -- Disorders -- Periodicals; 616.39042
• DOI: 10.1002/jmd2.12343
• Languages: English
• ISSNs: 2192-8304

Abstract

Abstract: Acute hepatic porphyria (AHP) is a group of rare genetic diseases of heme biosynthesis resulting in severe neurovisceral attacks and chronic complications that negatively impact patients' well‐being. This study evaluated the impacts of AHP on patients' physical and emotional health from a global perspective. Adult patients from the United States, Italy, Spain, Australia, Mexico, and Brazil with AHP with >1 porphyria attack within the past 2 years or receiving intravenous hemin and/or glucose for attack prevention completed an online survey assessing demographics, health characteristics, and patient‐reported outcomes. Results were analyzed collectively and by patient subgroups. Ninety‐two patients with AHP across the six countries completed the survey. More than 70% of patients reported that their physical, emotional, and financial health was fair or poor. Among patients who reported pain, fatigue, and muscle weakness, 94.3%, 95.6%, and 91.4%, respectively, reported that these symptoms limited daily activities. Moderate to severe depression was present in 58.7% of patients, and moderate to severe anxiety in 48.9% of patients. Of the 47% of patients who were employed, 36.8% reported loss in productivity while at work. Among patients, 85.9% reported that they had to change or modify goals that were important to them because of AHP. Aside from differences in healthcare utilization and pain severity, scores did not significantly vary with attack rate or use of hemin or glucose prophylactic treatments. AHP substantially impacts patients' physical and emotional well‐being, regardless of hemin or glucose prophylactic treatment or frequency of attacks. This multinational study demonstrates that there is substantial disease burden for patients with AHP, even among those experiencing sporadic attacks or using prophylactic treatment.