Epidermolysis Bullosa Treatment Helps Keep Disease Stable: Study
Increase in disease activity seen in DEB, JEB patients over years
Disease activity may remain stable over years in people with epidermolysis bullosa, but will increase in the absence of treatment, according to a new report from a team of researchers in Australia.
The team used the Epidermolysis Bullosa Disease Activity and Scarring Index, known as EBDASI — a clinical tool that’s been validated for different types of epidermolysis bullosa — to collect real-world data tracking the disease’s manifestations and accumulating damage over time.
The increase in disease activity was seen more particularly in people with the recessive form of dystrophic epidermolysis bullosa (DEB) or junctional epidermolysis bullosa (JEB) who sometimes experience long-term complications from scarred tissues.
“To our knowledge, this is the first observational report from real-world data documenting the long-term follow-up of [epidermolysis bullosa] using EBDASI,” the researchers wrote.
Titled “Long-term follow-up of epidermolysis bullosa in real practice shows stability of the Epidermolysis Bullosa Disease Activity and Scarring Index and improvement with some off-label therapies,” the report was published as a letter to the editor in the journal JAAD International.
Tracking the disease over time
Epidermolysis bullosa is a rare disease that causes the skin to become so fragile that it can blister easily. Its symptoms vary with the type of epidermolysis bullosa a person has — and can even differ among individuals with the same type.
Some people have mild symptoms, with blisters appearing most often on the hands and feet. But for others, blisters can appear on other parts of the body and form scars.
“Trials are underway to compare new treatments with supportive care,” the researchers wrote, adding, “Despite this, there is a lack of long-term objective data on how lesions change over time.”
To learn more, the team drew on data from 18 people with epidermolysis bullosa, with ages ranging from 2 to 72, who were followed for at least one year using EBDASI. Each patient had at least three records of their EBDASI scores starting in 2013.
On average, these individuals were followed for 39.4 months, or about 3.3 years.
“How the disease affects each patient is highly varied; therefore, it is important to observe the trajectory of such scores rather than isolated values,” the researchers wrote.
EBDASI gives a score out of a total of 276 points to manifestations of disease activity such as blisters and crusts. It scores accumulating damage out of 230 points.
Thus, the highest possible score totals 506 points, and the higher the score, the worse the disease.
Among the patients, six had RDEB, five had JEB, four had epidermolysis bullosa simplex (EBS), and three had the dominant form of DEB.
People with dominant DEB have a single mutated gene copy that’s sufficient to cause epidermolysis bullosa, whereas those with recessive DEB inherited two copies of disease-causing mutations, one from each parent.
Overall, the EBS patients generally scored the lowest — meaning they had the least amount of disease activity — on EBDASI. In one person with EBS, who also had a diagnosis of atopic dermatitis (eczema), EBDASI scores increased during eczema flare-ups. That suggested that itching and scratching worsened his trauma-induced blisters.
Laser therapy, which has shown benefits in dominant DEB, was used as a treatment for one patient with that type of epidermolysis bullosa.
After about 3.3 years of steadily increasing EBDASI scores, that individual had a course of 21 sessions of photobiomodulation, a form of laser therapy that’s believed to speed healing of tissues. This brought about a 16-point reduction in the EBDASI disease activity score and a 14-point drop in the EBDASI damage score.
In either score, the reduction went beyond the minimal clinically important difference of three points.
In people with JEB, disease activity remained stable over a total of 54 visits. In one case, EBDASI’s damage score dropped after treatment with thalidomide, an anti-cancer medication that’s sometimes used off-label in epidermolysis bullosa.
Disease activity also remained stable for years in people with recessive DEB, “with gradual increases in the absence of intervention,” the researchers wrote.
“The current report depicts the clinically significant impact of medical interventions and emerging therapies such as photobiomodulation, and the need for ongoing use of the EBDASI for future interventions and clinical trials,” they concluded.