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

BACKGROUND: 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. METHODS: 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 ≥ 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. RESULTS: 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). CONCLUSIONS: 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.

[Morphological and functional assessment of the oral mucosa in children with dystrophic epidermolysis bullosa]. / Otsenka morfologicheskogo i funktsional'nogo sostoyaniya slizistoi obolochki rta u detei s distroficheskim bulleznym epidermolizom.

THE AIM OF THE STUDY: To validate modified oral index (MOI) for the assessment of the oral mucosa in children with dystrophic epidermolysis bullosa (DYB). MATERIALS AND METHOS: The study comprised 27 DYB children aged 4 to 18 years. Morphological component of MOI was documented by an intraoral camera with the registration of pathological elements in various of the oral cavity and differentiated scoring. Functional component included registration of ankyloglossia and microstomia measured by Bristol assessment system and orthodontic caliper, correspondingly, and then referred to normal age-matched values. RESULTS: Oral mucosa condition deteriorates in DYB children with age both in morphological and functional aspects. MOI values more than 40 should be seen as prognostically unfavorable as they are always associated with severe functional restrictions. These restrictions are always present in children older than 6. If present in younger age they may indicate poor functional status in future. CONCLUSION: The MOI may be a useful tool for the assessment of the efficacy of the pharmacological agents' impact on the oral mucosa and disease prognosis. Correlation of MOI and general condition of DYB children needs further investigation.