Patient and caregiver experiences of living with acute hepatic porphyria in the UK: a mixed-methods study

Abstract

Background This study used quantitative and qualitative research methods to analyze how acute hepatic porphyria (AHP) affects patients with varying annualized porphyria attack rates. The overall impact of AHP on patients and caregivers, including their quality of life, was explored. The nature and treatment of acute attacks, experiences of long-term heme arginate treatment and access to other appropriate treatment, and the extent of and treatment for chronic symptoms were also investigated within this study. Methods Patient and caregiver data were collected via an online survey of members of the British Porphyria Association, followed by an optional 1-h telephone interview. Results Thirty-eight patients and 10 caregivers responded to the survey. Of those, 10 patients and three caregivers completed follow-up interviews. Overall, 19 patients (50%) had experienced an acute attack within the previous 2 years, and the severity and types of symptoms experienced during or between acute attacks varied considerably. There were no clear definitions among patients for ‘mild’ or ‘severe’ attacks. Treatments and treatment settings used to manage attacks also varied. Following unsatisfactory care experiences at hospitals, some patients reported avoiding further hospital services for later attacks. Therefore, using settings of care as a measure of attack severity should be avoided. Ninety-four percent of patients also experienced chronic symptoms, which were as varied as acute attacks. Pain was the predominant chronic symptom and was managed with opioids in severe cases. Regardless of AAR, porphyria heavily impacted the daily lives of patients and caregivers. Although patients experiencing frequent attacks generally endured a greater impact on their daily life, patients with less frequent attacks also experienced impacts on all domains (social, leisure activities, relationship with family, relationships, psychological wellbeing, finances, employment, and study). Caregivers were most affected in the finance, relationships with family, and employment domains, and just over half of the caregivers reported a moderate impact on their psychological wellbeing. Conclusions/implications The burden of illness with AHP is high across all patients, regardless of frequency of attacks, and AHP negatively affects patients and caregivers alike.

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

“…Acute hepatic porphyrias (AHP) are a group of rare genetic diseases of heme biosynthesis. 1 , 2 Four types of acute porphyria have been identified, each having unique enzymatic defects: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and ALAD (5′‐aminolevulinic acid dehydratase) deficiency porphyria (ADP). 1 Among these AHP types, AIP is the most common, with a calculated prevalence of 5.9 per 1 million in European countries.…”

“…20 For patients, caregivers, and clinicians, these studies and others provide insight into the extent of the impact of AHP beyond clinical symptoms. 21 While prior studies evaluated a limited set of patient-reported outcome (PRO) tools among patients within particular countries, 2,[22][23][24] there is still a lack of understanding of the full burden of AHP, especially in a study including a diverse set of patients across the globe. The present study was designed to assess the full spectrum of the AHP patient's well-being and unmet emotional, mental, and physical needs across countries and regions of the world.…”

Patient Perspective on Acute Hepatic Porphyria with Sporadic Attacks: A Chronic Disease with Substantial Health-Related Quality of Life Impacts

“…Previous research into the burden of recurrent AHP found similar symptoms and impacts to those described here. For instance, pain, nausea, fatigue, and aspects of neuropathy were considered key chronic symptoms and sleep difficulties, inability to work, negative financial impact, difficulty walking, and decreased socialization were main impacts identified in previous studies [ 19 , 30 ]. Only one study was identified that examined a population broadly similar to the patient population examined here [ 31 ].…”

A Case of Acute Intermittent Porphyria Leading to Severe Disability in a Young 21-Year-Old Female

“…Along with these, pain management, respiratory support, intensive physiotherapy, nutritional support, medication review for safety in porphyria, mental health support [15], and patient and caregiver education should be continued in parallel. Organizations support groups such as the National Acute Porphyria Service, National Organization for Rare Disorders, and the British Porphyria Association provide valuable resources [16].…”