Acute Porphyria Puts High Burden on Patients, Caregivers in UK

Patients with acute hepatic porphyria (AHP) and their caregivers face a high disease burden and diminished well-being, a recent U.K. survey has found.

These patients also have diverse experiences in severity of attacks, managing symptoms, and accessing appropriate treatment. 

The study, “Patient and caregiver experiences of living with acute hepatic porphyria in the UK: a mixed-methods study,” was published in the Orphanet Journal of Rare Diseases.

AHP, or simply acute porphyria, comprises a group of four metabolic disorders that cause acute attacks of severe pain and weakness, as well as chronic symptoms such as gastrointestinal issues, fatigue, and changes in mental health status.

The study, conducted from January to April 2019, evaluated the experiences of AHP patients and their caretakers on several aspects of disease management, and the overall impact of AHP on their quality of life. The study consisted of an online survey, which was shared with members of the British Porphyria Association, followed by an optional, one-hour, follow-up phone interview.

A total of 38 patients and 10 caregivers participated in the survey, with 10 patients and three caregivers also completing the phone interview.

Most survey respondents (90%) and interviewees (69%) were female and either had or were caring for someone with acute intermittent porphyria (77% of survey respondents; 92% of interviewees). Acute intermittent porphyria is the most common form of AHP.

Among patient survey respondents, 32 (84%) had had an acute attack since diagnosis — 26 (81%) of whom experienced an attack in the last two years — while two (5%) never had one, and 4 (11%) were unsure if they ever experienced an attack. 

The 10 interviewed patients reported varying degrees of severity in attacks, with all reporting pain, 70% experiencing mental health status changes, 70% having gastrointestinal symptoms, and 60% experiencing paralysis and muscle weakness. 

Most patient survey respondents (63%) managed acute attacks with heme arginate alone or in combination with glucose therapy. More than half of the attacks (60%) were managed at home. 

A nearly equal proportion of patients expressed dissatisfaction (43%) and satisfaction (42%) with treatment for their acute attacks, with some patients reporting that lack of awareness of AHP can delay treatment. 

“A lot of the people I know with porphyria don’t want to go to [Accident & Emergency] every single time because it just feels like a battle with the staff,” one of the patients said.

Among patients who experienced an acute attack, 30 (94%) reported having chronic symptoms between attacks, with the most common being pain (81%), fatigue (78%), emotional distress (75%), and difficulty sleeping (56%). 

A total of 30 patient respondents described the overall impact AHP had on their lives, with those having three or more attacks per year reporting a slightly greater disease impact. Patients who had fewer than three annual attacks reported AHP had a moderate impact on their work and social life, and on their mental well-being and leisure activities.

In interviews, patients revealed that their symptoms affected their ability to work, with some changing their employment status and type. Regular daily activities were also affected by AHP, with 90% of interviewees struggling with household chores, 40% with mobility, 30% with personal care, and 30% with maintaining independence. 

Among caregivers, financial status, employment, and personal relationships were the most impacted by their role. Both patients and caregivers felt that AHP had affected their relationships with their partners.

“It is clear from the results of this analysis that the burden of illness with AHP is high for all patients and caregivers, regardless of the frequency of attacks experienced, and there remain many unmet needs within this population,” the researchers wrote.

They acknowledged the study was limited by its small size and patient-reported nature, the lack of a required physician-confirmed AHP diagnosis, and the low number of caregivers and patients with certain demographical characteristics.

“Further work is needed in the field of AHP to improve the definition of disease burden,” they wrote.