Defining Dystrophic Epidermolysis Bullosa Characteristics and Burden

Across the three major epidermolysis bullosa (EB) types, dystrophic EB (DEB) represents approximately 25% of cases. According to a poster presented at AMCP 2022, where it was selected for a gold medal award, patients with recessive DEB (RDEB) are potentially at higher risk of mortality due to metastatic squamous cell carcinoma (SCC), and experience further complications such as septicemia, malnutrition, ophthalmic disorders, pseudosyndactyly, constipation, and pain. The study’s lead author, J. Roman, and colleagues presented a quantified view of the total disease burden of patients with DEB, a view which they felt underscored “the devastating impact of this disease, and the need for treatments that directly address COL7 deficiency.”

The researchers retrospectively analyzed health care costs among patients from the Optum Clinical Database with a diagnosis of DEB or unspecific EB and with linked claims data available. Patients were indexed on the date of their diagnosis and their demographics, comorbidities, medications, and health care resource utilization (HCRU) were recorded in six-month periods prior to and following their index date.

A total of 514 patients were enrolled, of which 96 had DEB and 418 had unspecified/other EB. Demographically, included patients had a mean age of 39.1 years, were 58.2% female, and 41.4% had commercial insurance coverage. According to the authors, the most common comorbidities in follow-up were malnutrition (18.8% for DEB; 11.0% for EB), mental health disorders (17.7% for DEB; 22.0% for EB), and constipation (14.6% for DEB; 3.1% for EB). Diagnoses of SCC were found in 3.1% and 0.5% of DEB and EB patients, respectively. Common prescriptions included antibiotics (49.0% for DEB; 43.8% for EB), pain medications (40.6% for DEB; 38.3% for EB), and itch medications (44.8% for DEB; 38.5% for EB). Over the six-month follow-up, on average, patients had of 12.2 ambulatory visits (13.9 for DEB; 11.9 for EB), 16.9% had an emergency department visit (11.5% for DEB; 18.2% for EB), and 18.7% had an inpatient stay (24.0 for DEB; 17.5% for EB). For patients with inpatient hospitalizations, the average total stay was 6.1 days for DEB and 8.8 for EB. Last, total medical costs were $16,176 ($24,844) for DEB patients and $14,133 ($33,530) for EB patients.

Overall, the study’s authors presented their findings to elucidate the “devastating” clinical and economic burden in patients with this rare genetic disorder, and highlight the unmet needs of this population.