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

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.

Evaluation of the safety and efficacy of givosiran in treating patients with acute hepatic porphyria and improving their quality of life: Clinical findings from the Expanded Access Protocol in Japan

“…AHP has affected many facets of their daily living (e.g., altering sleep patterns, ability to work, walking abnormalities, dwindling nances, increased medical costs, and decreased socialization) 2,3) . Even in patients with a low rate of acute attacks or long periods without attacks, AHP remains a chronically symptomatic disease that adversely affects health and QOL 1,4,5) . To date, treatment options for all forms of AHP are limited, mainly because there is no prophylactic treatment available, and patients with AHP have been subjected to living in fear of attacks.…”

Neurofilament light chain as a biomarker for acute hepatic porphyrias

“…Psychiatric evaluation for depression and anxiety was conducted during the medical interview through the application of two scales: the 8-item Patient Health Questionnaire depression scale (PHQ-8; scale, 0–24) and the 7-item Generalized Anxiety Disorder scale (GAD-7; scale, 0–21). Moderate to severe depression was identified with a PHQ-8 cutoff score of ≥10 ( 16 ), and mild, moderate, and severe anxiety was identified with GAD-7 scores of 5, 10, and 15, respectively ( 17 ).…”

Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies

“…The retrospective evaluation of medical records for patients in Groups B, D, and E aimed to comprehend their disease history and medical details. The collected data included information on age at onset, age at diagnosis, time to definitive diagnosis, duration of disease at the time of cerebrospinal fluid (CSF) collection, time to death, leukodystrophy subtype (relevant only to Group D), genetic variants associated with leukodystrophy (for patients in Groups B and D), scores on functional scales such as the Expanded Disability Status Scale (EDSS) [18], Spastic Paraplegia Rating Scale (SPRS) [19], Montreal Cognitive Assessment (MoCA) [20], Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R) (applicable only to Group D) [21], the 8-item Patient Health Questionnaire depression scale (PHQ-8; scale, 0-24) [22], the 7-item Generalized Anxiety Disorder scale (GAD-7; scale, 0-21) [23], Fatigue Severity Scale (FSS) [24], and their health-related quality of life (HRQoL) at the time of CSF collection.…”