Power (porphyria worldwide patient experience research) study: impact of acute hepatic porphyria assessed through an international patient survey

Introduction: Acute Hepatic Porphyria (AHP), also known as acute porphyrias, is a family of rare genetic diseases characterized by defects in the liver heme biosynthesis pathway. AHP includes acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and the ultra-rare, ALAD- deficient porphyria (ADP). AHP is associated with life-threatening attacks and, for some, chronic debilitating symptoms. Previous research suggests that AHP has severe negative effects on quality of life for affected patients and their caregivers. Methods: Adult patients with a diagnosis of AHP from the U.S., Italy, Spain, Australia, Mexico and Brazil who had >1 porphyria attack within the past 2 years or were receiving intravenous hemin and/or glucose for attack prevention took part in a self-completed online survey. Patients receiving givosiran were excluded. Recruitment was conducted through patient advocacy associations. Survey questions included de novo items and standardized patient reported outcome scales: General Anxiety Disorder-7 (GAD-7), Patient Health Questionnaire (PHQ-8), West Haven-Yale Multidimensional Pain Inventory (WHYMPI), and Work Productivity and Activity Impairment (WPAI). Descriptive analyses were conducted on the overall sample of patients who completed all questions. Results: 92 patients with AHP completed the survey, mean (SD) age 41.1 (12.4) years, 90.2% female, 74% with a diagnosis of acute intermittent porphyria (AIP). Mean (SD) age at diagnosis and age at first suspected symptom were 30.8 (10.8) and 24.3 (10.7), respectively. Patients reported a median of 4.5 attacks in the past 2 years. For attack prevention, 23.9% and 19.6% received routine hemin or routine glucose, respectively. A majority of patients reported their current physical (78.3%), emotional (71.7%), cognitive (53.3%), financial (70.7%), and social health (54.3%) as poor or fair. Mean (SD) PHQ-8 and GAD-7 scores were 12.05 (6.74) and 10.27 (5.74) respectively. WHYMPI and WPAI scales reported significant pain interference and work productivity impairment in the overall sample. Conclusion: The characteristics of the POWER study population are consistent with other international porphyria studies. In the initial analysis of this population, patients reported significant impacts in their physical, emotional, cognitive, financial, and social health, due to their AHP. Most patients reported moderate to severe depression and anxiety, significant pain, and negative impacts on their work.