LONDON – A quarter of urgent contacts in 20 children with generalized severe recessive dystrophic epidermolysis bullosa (GS-RDEB) were tied to esophageal narrowing, according data from a 12-month review of electronic health records.
Urgent advice was sought 102 times outside of regular or scheduled appointments by the parents of 20 children with GS-RDEB, Christine Prodinger, MD, of the University Clinic of Dermatology at Paracelsus Medical University, Salzburg, Austria, and colleagues reported in a poster presentation at the EB World Congress, organized by the Dystrophic Epidermolysis Bullosa Association (DEBRA). The researchers looked at the records from the EB clinic at Great Ormond Street Hospital for Children NHS Foundation Trust, London, during April 2018–April 2019.
The mean number of urgent contacts with the specialist unit was 5.1 per patient per year, the researchers reported, with 24 of the 102 contacts (23.5%) resulting in the child being admitted to a hospital. Most of the contacts were made via email or telephone to EB nurses (94%), by contacts during home visits (3%), or in an appointment with the palliative or symptom care team (3%).
“The most common reason [for the urgent contact] was acute dysphagia,” which was experienced as choking, throat pain, difficulty eating, reflux, and vomiting, the researchers observed. Dysphagia affected children in 27 of the contacts (26.5%), and resulted in esophageal dilatation in 90% of the cases. Other reasons for urgent contact were skin infection (15.7% of contacts), uncontrolled pain (15.7% of the contacts), and eye problems (11.8%).
Esophageal dilatation
Strictures are just one of the esophageal manifestations of the disease, noted Anna Bruckner, MD, associate professor of dermatology and pediatrics in the department of dermatology at the University of Colorado at Denver, Aurora, during an oral presentation. Other possible manifestations include blisters and erosions, the formation of webs – a thin extension of esophageal tissue, perforations, and rupture. “These are primarily problems with dystrophic EB” but can occur with other EB subtypes, she noted.
“We don’t have great evidence” on whether the onset of esophageal strictures can be delayed or prevented, Dr. Bruckner observed. As for management, “fluoroscopy-guided balloon dilatation is probably best” for most patients, but the best procedural approach needs to be discussed on a patient-by-patient basis.
Citing a paper that documents her own experience on the use of esophageal dilatation in 24 children who underwent 231 fluoroscopy-guided balloon dilatation procedures, Dr. Bruckner noted that strictures were most commonly located in the proximal part of the esophagus, with a median distance of 13 cm down from the lips (J Pediatr Gastroenterol Nutr. 2018;67[6]:701-5).
The retrospective chart review reported by Dr. Bruckner showed that there were a median of seven dilatation procedures per patient, and 20 patients had repeated procedures at a median interval of 164 days. About 10% of procedures resulted in adverse events – mostly vomiting, pain, and fever – but there were no perforations or other serious effects, and the rate of subsequent hospitalization was 6.9%.
Dysphagia
Dysphagia was the predominant symptom caused by esophageal stricture in another dataset reported in a poster by Elena Pope, MD, MSc, of the Hospital for Sick Children at the University of Toronto, and colleagues.
Of 125 EB patients who had experienced at least 1 esophageal stricture episode, 497 esophageal stricture events were reported, and 85.5% of patients had difficulty swallowing at presentation, with 29.8% unable to swallow solids and 7.2% unable to swallow liquids. Other symptoms at presentation were painful swallowing (11%), food being stuck in the esophagus (8%), regurgitation (5%), coughing (4.8%), and dyspepsia (2.8%).
The aim of the retrospective, multicenter cohort study was to determine the prevalence of, and predisposing factors for, restenosis of esophageal strictures and factors that may predispose to restenosis. The study population consisted of 66 men and 59 women who had experienced their esophageal stricture at around ages 12-13 years. The majority (98.4%) had dystrophic EB, of which almost half (46.5%) had GS-RDEB.
The researchers found that the location of the esophageal stricture was important for restenosis, and that strictures occurring in the lower esophagus were 67.5% less likely to result in restenosis than if they occurred in the upper esophagus (P = .057; hazard ratio, 0.675).
A higher number of strictures was associated with a higher rate of restenosis, they reported. Indeed, patients who had two esophageal strictures had a 29.4% increased risk of restenosis, compared with those who had just one stricture (P = .038; HR, 1.294), and those with three or more strictures had an increased risk of 78.5%, compared with those having one stricture (P = .005; HR, 1.785).
Strictures longer than 1 cm also were associated with a greater (34.7%) risk of restenosis, compared with shorter strictures (P = .032; HR, 1.347). Various methods of resolving the stricture were used, from fluoroscopy-guided balloon dilatation to retro- or antegrade endoscopy. “Irrespective of method, dilatations are successful,” Dr. Pope and colleagues reported. The overall success of dilatation was 99.3%, with full dilatation achieved in almost all of the patients (96%). Of note is that there was a low risk (2.6%) of complications, they observed.
Medications were used in 46.8% of the patients, with the most popular choice being corticosteroids (90.3%), but the researchers noted that the “potential benefit of periprocedural corticosteroids use in decreasing the risk of restenosis needs further exploration.”
Dr. Bruckner had noted in her presentation that her group did not favor the use of periprocedural corticosteroids, but that antifibrotic therapy “could be attractive” for preventing future strictures.
Dr. Prodinger, Dr. Pope, and their colleagues did not provide disclosure information. Dr. Bruckner is the principal investigator for the Epidermolysis Bullosa Clinical Characterization and Outcomes Database. She disclosed the receipt of grants or research funding, honoraria, or consultation fees from a number of drug companies, as well as other support from the EB Research Partnership and the EB Medical Research Foundation.
SOURCES: Prodinger et al. EB 2020. Poster 3; Bruckner A et al. Pediatr Gastroenterol Nutr. 2018;67(6):701-5; Pope et al. EB 2020. Poster 8.