Clinical characteristics, healthcare use, and annual costs among patients with dystrophic epidermolysis bullosa

• Published in: Orphanet journal of rare diseases Vol. 17; no. 1; pp. 1 - 367
• Main Authors: Feinstein, James A, Bruckner, Anna L, Chastek, Benjamin, Anderson, Amy, Roman, Juan
• Format: Journal Article
• Language: English
• Published: London BioMed Central Ltd 29.09.2022; BioMed Central; BMC
• Subjects: Administrative claims; Analysis; Anemia; Antibiotics; Bacterial infections; Bandages; Cancer; Care and treatment; Comorbidity; Complications; Constipation; Cost of illness; Costs; Diagnosis; Disease; Disease burden; Dystrophic epidermolysis bullosa; Electronic health records; Electronic medical records; Emergency medical care; Epidermolysis bullosa; Health care; Infections; Malnutrition; Medicaid; Medical care; Medical care, Cost of; Medical dressings; Medical research; Mental disorders; Mental health; Mutation; Pain; Patients; Rare diseases; Resource utilization; Squamous cell carcinoma; Utilization; Wound healing; United States
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-022-02509-0

Dystrophic epidermolysis bullosa (DEB) is a serious, ultra-rare, genetic blistering disease that requires a multidisciplinary care team and lifelong, proactive disease management. To organize and optimize care, we comprehensively examined diagnoses, healthcare use, and annual costs in patients with DEB across all healthcare settings. A retrospective study was performed using electronic health record (EHR) data from Optum Clinical Database (January 1, 2016, through June 30, 2020). Patients with an epidermolysis bullosa (EB) diagnosis between July 1, 2016, and December 31, 2019, with [greater than or equal to] 6 months of baseline and 12 months of follow-up activity were included. Patients were stratified by EB type: recessive DEB (RDEB), dominant DEB (DDEB), DEB (type unknown), and EB unspecified. Demographics, comorbid conditions, and healthcare resource utilization were identified from EHR data. Cost of bandages and total medical costs (US$) were identified from linked claims data. A total of 412 patients were included, classified as having DDEB (n = 17), RDEB (n = 85), DEB (type unknown; n = 45), and EB unspecified (n = 265). Mean age was 38.4 years, and 41.7% had commercial insurance coverage. The most common comorbidities were mental health disorders, malnutrition, and constipation. Rates of cutaneous squamous cell carcinoma ranged from 0% (DDEB) to 4.4% (RDEB). Prescriptions included antibiotics (56.6%), pain medications (48.3%), and itch medications (50.7%). On average, patients had 19.7 ambulatory visits during the 12-month follow-up, 22.8% had an emergency department visit, and 23.8% had an inpatient stay. Direct medical costs among patients with claims data (n = 92) ranged from $22,179 for EB unspecified to $48,419 for DEB (type unknown). This study demonstrated the range of comorbidities, multiple healthcare visits and prescription medications, and treatment costs during 1 year of follow-up for patients with DEB. The results underscore that the clinical and economic burden of DEB is substantial and primarily driven by supportive and palliative strategies to manage sequelae of this disease, highlighting the unmet need for treatments that instead directly address the underlying pathology of this disease.