Pain common, but hard to manage, in RDEB: Study
Researchers note need to develop better pain-control strategies
Pain is a frequent problem for people with recessive dystrophic epidermolysis bullosa (RDEB), and available medications are often not sufficient to control it, a study reported.
“Pain is an almost universal symptom across all types of RDEB,” the researchers wrote, noting that worse pain “generally correlates with worse quality of life, greater disease severity and longer time spent on dressing changes.” The data “underscore the unmet need for effective pain management especially for the more severe RDEB subtypes,” they added.
The study, “Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES),” published in the Orphanet Journal of Rare Diseases.
RDEB is caused by mutations in the gene COL7A1, which provides instructions to make a type of collagen (a protein that helps skin and other tissues maintain its structural integrity). In RDEB, defective collagen production leads to symptoms including abnormally fragile skin, poor wound healing, and frequent blisters.
An ongoing research effort called the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES) is collecting data on the natural history of RDEB, aiming to determine how the disorder affects patients in the absence of treatment in order to help inform future clinical trials. In this study, researchers analyzed data from PEBLES hoping to better understand and quantify the experience of pain among RDEB patients.
Background pain
“Pain is often cited as a major problem in EB and is an area patients and caregivers have identified as a priority for better treatments,” the scientists wrote. “However, the incidence [new cases], intensity, sites, and frequency of pain have not been comprehensively explored.”
The study included eight-year data from 61 patients, 13 children and 48 adults. Since patients were evaluated more than once over the course of follow-up, a total of more than 300 individual evaluations were analyzed.
Results showed that nearly all of the RDEB patients experienced notable pain. Of the 61 patients who participated, three individuals didn’t report any pain at any assessment.
The vast majority of patients reported both background pain (that is, persistent, ongoing pain) as well as procedural pain (meaning pain related to medical procedures like changing bandages on wounds). More than half of the participants said they experienced pain often or constantly.
When patients were asked to rate their pain on a scale from 0 to 100, the median background pain score was 40. For procedural pain, the median score for patients undergoing regular bandage changes was 52. Patients who had more severe RDEB, as assessed by standardized disease severity measures, generally tended to report worse pain, both procedural and background.
Adults who had worse pain tended also to report poorer scores on measures of quality of life. The relationship between pain and life quality in children didn’t show a clear connection in statistical models, which the researchers said was likely due to the small number of children included in the analysis.
Pain also had a notable impact on sleep, with nearly two-thirds of patients reporting that their sleep was disrupted due to pain. More than one in three said that pain caused sleep problems most nights.
For most patients, skin was the primary source of pain. However, among those with RDEB inversa, a subtype marked by less widespread tissue damage, the mouth was the most common location of pain.
About two-thirds of the patients in the study took medications such as opioids to help manage pain. Some took pain medications regularly, while others used them only as needed. Patients who reported more pain tended to use more pain meds, but nonetheless procedural pain seemed poorly controlled, the researchers noted.
This implies that available therapies aren’t cutting it when it comes to managing pain in RDEB, especially among individuals with more severe disease. The scientists called for further efforts to develop better strategies to control pain. “The one third of participants reporting no pain medication use, despite over 90% of all participants experiencing some pain, suggests that current treatments are inadequate and/or not tolerated,” they wrote.
About the Author
