EPP takes major toll on patient quality of life: Study participants
Anxiety and social isolation common in adults, adolescents
Adults and adolescents with erythropoietic protoporphyria (EPP) reported a significant detrimental impact of the disease on their health-related quality of life (HRQoL), as well as their social and psychosocial well-being, a new study reports.
Nearly two-thirds of adults and almost all adolescents reported limitations in their daily activities, while about three-quarters of adults and nearly half of adolescents expressed substantial dissatisfaction with their social roles. Anxiety and social isolation were also common in this population.
“The findings highlight the need for earlier detection and engagement with specialists, and more effective treatments to enhance the HRQoL [health-related quality of life] for individuals with EPP,” researchers wrote.
The study, “The Burden of Erythropoietic Protoporphyria (EPP): Results From the EPP Life Impact and Genetic Health Trajectory (LIGHT) Study” was published in The Journal of Dermatology.
Symptoms hindered most participants’ daily activities at least ‘somewhat’
EPP is a type of porphyria characterized by extreme sensitivity of the skin to sunlight, causing itching and burning. Prolonged exposure to light can result in redness and swelling of the skin. This condition also impacts liver function, with approximately 20% to 30% of individuals with EPP exhibiting elevated liver enzyme levels, and about 2% to 5% potentially suffering from liver failure.
Skin symptoms typically appear early in life and have a marked impact on patients’ HRQoL and social life. However, few reports have described the burden from the patient’s perspective, particularly regarding children and adolescents.
In this study, a team led by Stanford researchers conducted an online survey to evaluate the full burden associated with EPP, including the disease’s impact on daily life, symptoms, quality of life, productivity, and healthcare utilization.
The survey, EPP Life Impact and Genetic Health Trajectory, was completed by 164 adults (mean age 45 years, 59.8% women) and 33 adolescents (mean age 14 years, 51.5% boys) with EPP residing in the U.S. or Canada.
Several Patient-Reported Outcomes Measurement Information System (PROMIS) scales were used, including those reflecting Satisfaction with Social Roles and Activities, Peer Relationships (adolescents only), and Social Isolation.
The most common early symptoms following sun exposure reported by all participants included tingling (71.3%), warmth (56.9%), itching (55.3%), sensitivity to touch (54.1%), sensitivity to hot/cold (53.0%), burning (52.5%), stinging (51.4%), and pain (42.6%). Symptom onset occurred within 10 minutes of sunlight exposure for 48.8% of adults and 15.2% of adolescents.
More than half of adults (62.8%) and most adolescents (87.9%) reported that these symptoms hindered their daily activities at least “somewhat.” Also, most participants (67.1% of adults and 87.9% of adolescents) had at least one phototoxic reaction, or adverse reaction to light exposure, in the previous year.
Overall patient quality of life impacted
During their most recent phototoxic reaction, adults reported an average pain score of 7.6 out of 10, and adolescents reported a score of 7.2, with symptoms typically lasting about five days before resolving.
All adolescents and almost all (93.3%) adults reported that having more time in the sun without pain was more meaningful to them than having fewer phototoxic reactions.
EPP had a considerable negative impact on participants’ functional and psychological well-being. Adults (64.6%) and adolescents (48.5%) reported at least “some difficulty” in performing activities such as yardwork, gardening, or washing a car for at least 15 minutes while it was sunny outside. Similarly, 64% of adults and 39.4% of adolescents found it tough to go for walks, runs, or bike rides, and 42.7% of adults and 15.2% of adolescents faced challenges in running errands outside when it was sunny.
About 72% of adults and 45.5% of adolescents were significantly less satisfied with their social roles than the general population. Moreover, feelings of social isolation were prevalent, with 62.8% of adults and 36.4% of adolescents scoring higher for social isolation than the general population on the PROMIS Social Isolation scale. Adolescents’ psychological well-being was also affected, with about one-third having less social support and worse peer relationships than the general population.
Anxiety about sun exposure was common, affecting more than two-thirds of adults and about half of adolescents. Feelings of sadness or depression were reported by 75% of adults and nearly half of adolescents. Almost all adults and more than half of adolescents expressed feelings of isolation. Frustration was reported by most adults (90.2%) and adolescents (93.9%), and loneliness affected 75.6% of adults and 39.4% of adolescents.
Clinicians managing EPP patients should be proactive in assessing these domains and making appropriate referrals, as well as recommending support groups.
In terms of daily life, more than half of adults and adolescents said that EPP impacted their ability to participate in activities over the past week. More than 55% of adults and 60.6% of adolescents reported needing to make adjustments to enjoy activities. Additionally, 62.2% of adults and 36.4% of adolescents felt that EPP affected their overall quality of life, while 60.7% of adults and 57.6% of adolescents mentioned they missed out on enjoyable activities due to EPP.
Regarding work and school attendance, 23.4% of adults said they missed work in the past month due to EPP, with productivity affected in 53.7% of adults and 16.7% of adolescents. Among those in school, 23.8% of adults and 41.7% of adolescents reported missing class due to their condition.
Regarding healthcare use, adults reported an average of eight visits to a physician in the previous year, while adolescents had an average of 3.2 visits. Among the participants, 84 sought care from general practitioners or internists, and 75 consulted dermatologists. Other specialists visited included hematologists, or blood doctors, as well as geneticists and psychiatrists.
Adults experienced an average of 5.4 visits to the emergency room due to EPP, primarily due to pain from phototoxic reactions (71.4%) and liver problems (50.0%), in the previous year.
Given the impact of EPP on patients’ social and mental health, “clinicians managing EPP patients should be proactive in assessing these domains and making appropriate referrals, as well as recommending support groups,” the researchers concluded.
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