People with RDEB note disease impact, but report better life quality with age
Long-term study shows kids, adults learn to adapt to day-to-day challenges
Written by |
People with all subtypes of recessive dystrophic epidermolysis bullosa (RDEB) usually report that the skin-related disease has a substantial impact on their health-related quality of life, but a new study shows that the perceived impact of RDEB among patients tends to lessen over time.
These findings suggest that, although the genetic disease has profound effects on patients’ lives and ability to function in day-to-day activities, people with RDEB are continually adapting to these challenges as they get older, according to the researchers.
“Our results highlight a significant impact on HRQoL [health-related quality of life] in adults and children with all types of RDEB which generally correlates with disease severity,” the researchers wrote. However, according to the team, their findings suggest a “psychological adaptation from living with RDEB.”
“A relative improvement in HRQoL with age, despite disease progression and increasing severity over time, supports ongoing adaptation throughout life” by patients, the team wrote.
Their study, “Health-related quality of life in recessive dystrophic epidermolysis bullosa: findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES),” was published in the Orphanet Journal of Rare Diseases. The work was funded by DEBRA UK, DEBRA Austria, Lifearc, and Debra Research, all nonprofit organizations.
A form of epidermolysis bullosa, RDEB is caused by mutations in both copies of the COL7A1 gene. Everyone inherits one copy of this gene from each biological parent.
Depending on how the disease presents, RDEB can be divided into a few main subtypes. In severe RDEB, the disease is marked by extensive blistering, chronic wounds, and severe pain and itching that are present from early life. Intermediate RDEB is marked by symptoms that are similar to those of severe RDEB and also start in childhood, but are generally less severe and less extensive.
RDEB inversa, meanwhile, is usually milder in early infancy, but is characterized by damage to skin and mucous membranes as a patient ages. Similarly, RDEB pruriginosa usually manifests mildly in early childhood, but patients develop extreme skin itching, typically during adolescence.
Scant data on life quality differences by RDEB type
All forms of RDEB can have a substantial effect on patients’ quality of life, particularly when skin scarring and pain “disturb sleep” and “affect mobility,” the researchers noted. For some patients, the team noted, “wound care and dressing changes require many hours each week for both affected individuals and their carers.”
However, there are no detailed data comparing how quality of life differs among people with different subtypes of the disease, the researchers noted.
Seeking to fill this gap and learn more about the disease’s impact, a team led by scientists in the U.K. has been conducting the Prospective EB Longitudinal Evaluation Study, known as PEBLES.
Patients taking part in this analysis were recruited between November 2014 and November 2021 at two EB centers in the U.K. All underwent regular assessments of health-related quality of life, given yearly for patients 10 and older or every six months for children younger than 10. In young children, parent-reported assessments were also collected. Age-specific assessments were used respectively for children and adults.
This study involved 335 assessments completed by 61 individuals over as long as seven years of follow-up in the PEBLES study. Among these patients, 26 had severe RDEB, 21 had intermediate RDEB, nine had RDEB inversa, and four had RDEB pruriginosa. One participant had pretibial RDEB, a rare and mild form of the disease that mainly affects skin on the lower legs.
Substantial effects found, regardless of disease’s form
Most patients were adults, and assessments showed that the majority reported that the disease had a severe impact on their HRQoL.
In general, life quality scores were worse for people with severe RDEB or RDEB pruriginosa relative to individuals who had intermediate RDEB or RDEB inversa. This difference “presumably reflects the general severity of symptoms, impact of daily living and burden of disease due to time spent on dressing changes,” the researchers wrote.
The team noted that life quality scores in adults showed an inverse correlation with age, meaning older patients tended to report better life quality.
This finding, noted particularly in participants with severe RDEB, was particularly striking given that symptoms of the disease tend to worsen as time goes on, according to the researchers.
“Our results may indicate that individuals adjust to their disease over time, becoming better able to function despite increasing limitations,” the scientists wrote.
Scores for physical health showed a negative correlation with age indicating worse scores for younger children which, as clinical severity increases over time, might suggest child and parental adaptation as they live with RDEB and its treatment.
Similar trends were reported among the few children in the study, per the data.
“Scores for physical health showed a negative correlation with age indicating worse scores for younger children which, as clinical severity increases over time, might suggest child and parental adaptation as they live with RDEB and its treatment,” the researchers wrote.
Among both children and adults, patients tended to report a substantial impact of the disease on physical function, the scientists noted. However, the impact on emotional and psychosocial health was comparatively milder.
According to the team, this likely reflects the fact that most people with RDEB have been coping with the disease since infancy, so its effects become just another part of their normal life and they tend to adapt.
Adults with RDEB pruriginosa tended to report greater emotional impacts from their disease. That likely reflects the fact that severe itching in this subtype usually manifests later in life, so patients don’t have a protective effect from an early onset of this complication, the team noted.
