This study used quantitative and qualitative research methods to analyze how acute hepatic porphyria (AHP) affects patients with varying annualized porphyria attack rates (AARs). 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, as well as the extent of, and treatment for, chronic symptoms, were also included within this study.
Patient and caregiver data were collected via an online survey of members of the British Porphyria Association, followed by an optional one-hour telephone interview.
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 two years, and the severity and types of symptoms experienced during or between acute attacks varied considerably. There was no clear definition among patients or caregivers of a ‘mild’ or ‘severe’ attack. Treatment used to manage attacks also varied, and previous experience with hospital care while managing an attack also affected whether a patient chose to return to hospital or manage the attack at home. Managing the attack at home is therefore not a signifier of the severity of the attack itself. 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, pain, discomfort, mobility, diet, relationship with family, relationships, psychological wellbeing, finances, employment and study). Caregivers were most affected in finance, relationships with family and employment domains, and just over half of the caregivers reported a moderate impact on their psychological wellbeing.
The burden of illness with AHP is high across all patients, regardless of frequency of attacks, and AHP negatively affects patients and caregivers alike.