Clinical Case Summary

8 years boy, presented with a spontaneous entero(colo)-cutaneous fistula for last 6 months. The patient had a history of colonic perforation at 1 year of age, twice spontaneous gastric perforations at 1.5 years of age, entero-cutaneous fistula at 2.5 years of age, colonic perforation, and reopening of anastomosis at 6 years age. For these complaints, he underwent a total of 7 abdominal surgeries. The child also had recurrent fever, skin infections, and oral ulcers along with neutropenia, mild anemia, high CRP, and ESR. Bone marrow aspiration and biopsy were normal. Upper gastrointestinal endoscopy was normal; colonoscopy showed patchy erythema, whitish scar areas, and no ulcers except for hepatic flexure where a large fistula was communicating to the skin. Colonic biopsies suggested chronic inflammation without granulomas.
Whole exome sequencing showed two mutations: 1. Heterozygous TNF-AIP3 gene suggestive of Autoinflammatory syndrome, familial, Behcet-like 1 (autosomal dominant). 2. The homozygous HAX1 gene is suggestive of severe congenital neutropenia (autosomal recessive).
Clinically the patient had features of both the disorders. The patient was started on cotrimoxazole prophylaxis and infliximab (IFX) which led to complete fistula closure within 6 months with gain in 10 cm height. Due to low neutrophils, he was also given G-CSF. A small fistula recurred after 9 months. Investigations showed low IFX levels with very high antibodies to IFX. After due consideration and consent the patient was given steroids followed by tapering and Adalimumab was added. After 6 months of treatment, the fistula has healed completely.
Conclusion: There is a need to do early genetic analysis in unusual cases. Both the above-mentioned mutations are very rare and unfortunately, our index patient suffered from both, which made our choice of treatment challenging. The role of biologicals can be extended to newly diagnosed rare disorders if pathogenic mechanisms are similar to IBD.

References

Berteau F, Rouviere B, Delluc A, Nau A, Le Berre R, Sarrabay G, Touitou I, de Moreuil C. Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature. Autoimmun Rev. 2018;17:809-815.

Introduction

To evaluate interim outcomes of a randomized controlled trial comparing Stretta radiofrequency (RF) therapy to conservative management in patients with gastroesophageal reflux disease (GERD), focusing on symptom control, daily PPI reduction, and acid exposure. The study further explores the hypothesis that Stretta may act via neuromodulation rather than mechanical augmentation of the lower esophageal sphincter (LES).

Aims & Methods

This ongoing prospective trial includes patients with non-erosive reflux disease (NERD) or grade A esophagitis (Los Angeles classification), no or minimal hiatal hernia (≤2 cm), and objectively confirmed pathological reflux by impedance-pH monitoring. Patients were randomized to Stretta (n = 20) or conservative therapy (n = 21). Follow-up was scheduled at 3, 6, and 12 months. Only patients with complete paired data were analyzed at each time point. Primary outcomes included symptom scores (GERD-HRQL and Reflux Symptom Index [RSI]) and daily PPI use. Acid exposure time (AET) was a secondary endpoint.

Results

In the Stretta group, 16, 12, and 9 patients completed 3-, 6-, and 12-month follow-up, respectively. In the conservative group, corresponding numbers were 18, 14, and 12. At 12 months, Stretta significantly improved GERD-HRQL (30.7 to 13.2; p = 0.0118), RSI (20.8 to 10.2; p = 0.0018), and reduced mean daily PPI use from 35.6 mg to 0 mg (p = 0.0070). AET did not significantly change (7.8 % to 6.4 %; p = 0.4033). In contrast, the conservative group showed no improvement in GERD-HRQL or PPI use, and RSI significantly worsened (14.1 to 20.1; p = 0.0101).

Conclusion

These interim findings suggest that Stretta therapy provides meaningful symptom relief and reduces the need for daily PPI use in selected GERD patients, even in the absence of acid normalization. This supports a neuromodulatory mechanism rather than mechanical LES augmentation. It is plausible that some GERD patients in this study had overlapping esophageal hypersensitivity, which may explain their positive clinical response. Stretta may thus have therapeutic relevance beyond current indications, particularly in patients with a hypersensitivity phenotype.

Disclosure

Katerina Kostalova has received speaker honoraria from Imedex, the official distributor of the Stretta system in the Czech Republic. No other conflicts of interest are declared by the authors.