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Summing UP features the latest porphyria research in easy-to-understand summaries that have been reviewed and approved by the UPA's Scientific Advisory Board of porphyria experts.
Published January 2023
Journal of Inherited Metabolic Diseases Reports
Full article here
Up to this point, most research that has been published about AHP has focused on symptoms and care during an acute attack. This research looks at the full burden of acute hepatic porphyrias (AHP, includes AIP, HCP and VP) on patients from around the world.
AHP patients were recruited through patient groups and physicians. After completing screening questions, participants were sent a survey which took about 30 minutes to complete.
The survey used some standardized questions and some questions specific to porphyria. The survey was developed with the input of patients and tested to make sure the information collected would reflect the realities of porphyria.
Survey questions covered several topics, including:
The POWER study included 92 adults with AHP. Participants were from the United States, Italy, Spain, Australia, Mexico and Brazil. Most patients were female (90%) and had AIP (74%). On average, participants were in their twenties when they first started having symptoms and it took an average of 6.4 years to get a diagnosis.
Participants managed their porphyria using trigger avoidance (64%), and with treatments of IV glucose (57%) and hemin (39%). Patients who were on givosiran were not included in the study.
On average, participants had had 4.5 attacks in the previous two years and had been hospitalized or gone to the emergency department twice because of attacks.
The study found that AHP had the biggest impact on physical, emotional and financial health with more than 70% of participants ratings their health in these categories as fair or poor.
Physical Health Impacts
Participants identified their most burdensome acute symptoms:
The most burdensome chronic symptoms were similar to the most burdensome symptoms during an acute attack:
The nature and location of the pain varied between patients, with 36% identifying lower back pain as the primary pain complaint. More than half of participants (56%) had had a pain-related surgery and 67% were taking pain medication. 37% of participants said their pain no longer responds well to therapy.
The impacts of chronic pain on well-being were similar to findings for patients with other types of chronic pain.
Social, emotional and mental health
Patients reported:
A majority of patients (63%) felt their friends and family gave them the support they needed.
Special assessments for depression and anxiety were included in the study. According to these assessments:
Porphyria had an impact on participant’s personal life and goals:
Financial Health
AHP had a profound impact on employment. Less than half of the participants were employed, and 61% of participants reported that AHP affected their ability to keep their job.
Of the participants who were employed, those 33% said they had missed work in the previous week and the assessment used to evaluate how their work was affected found a 37% loss of productivity.
The study compared patients with sporadic (0-5 attacks in the last 2 years) with patients who had recurrent attacks (6 or more attacks in 2 years).
Patients with more attacks had more hospitalizations and emergency department visits and reported more severe pain. This research did not find a significant difference, however, in the perceived impacts of AHP on physical, emotional, cognitive, financial and social health between the two groups:
Prophylactic treatments of hemin or glucose are given to prevent attacks from happening (as opposed to being administered when an attack is in progress).
In this study, 38% of patients had received prophylactic treatments. There was no difference in the perceived impacts of AHP on physical, emotional, cognitive, financial and social health between those who did and didn’t have these treatments.
Patients who were receiving prophylactic treatments experienced three times more emergency department visits than the non-prophylaxis group. This doesn’t mean the treatments cause more attacks, they may be receiving these treatments because they have more attacks requiring care to begin with.
This research shows that acute hepatic porphyrias have a substantial impact not only on patients’ physical health but also on their emotional social and financial well-being. There is a need for approaches to care that can reduce attacks, reduce chronic symptoms and improve overall wellbeing.
From chronic pain, impacts on mental health, limitations to employment, the POWER study captures the realities of living with acute hepatic porphyria from patients around the world.
