Introduction

Endoscopic transpapillary gallbladder drainage (ETGBD) is recommended for patients with acute cholecystitis at high risk of surgery/percutaneous drainage. Endoscopic ultrasound-guided gallbladder drainage (EUS-GBD) has a higher success rate than ETGBD but has a higher mortality rate as well. Therefore, the more appropriate procedure as emergent endoscopic drainage remains controversial.

Aims & Methods

This study aimed to evaluate the efficacy of endoscopic gallbladder drainage (EGBD); ETGBD and EUS-GBD for patients with technical failure of ETGBD in the same session.
Patients with moderate/severe acute cholecystitis at high risk of surgery who underwent ETGBD alone or EGBD were enrolled. In the EGBD group, patients underwent EUS-GBD after technical failure of ETGBD in the same session. The primary outcome was technical/clinical success rate and procedure-related adverse events by comparing ETGBD and EGBD.

Results

We enrolled 40 ETGBD and 41 EGBD patients. The overall technical success rate was significantly higher in the EGBD group than in the ETGBD group (97.6% vs. 82.5%, P=0.023). No significant difference was in clinical success rates and adverse event rates between both groups (P=0.858 and 0.665, respectively). The length of hospitalization was significantly shorter in the EGBD group (6.5 vs. 10.1 days, P<.001).

Conclusion

EGBD contributed to higher technical/clinical success rate, and shorter length of hospitalization, with similar incidence rate of adverse events, than ETGBD alone. Thus, this rescue strategy of ETGBD with EUS-GBD having a higher global success rate may be ideal for emergency endoscopic gallbladder drainage.

Clinical Case Summary

Aims: Williams syndrome is characterized by facial dysmorphic features, mental retardation, a unique cognitive profile, hypercalcemia and connective tissue abnormalities. Gastrointestinal manifestations include feeding problems, gastroesophageal reflux, constipation, diverticulosis, chronic abdominal pain, hernias and celiac disease (Figure), while liver cirrhosis has never been reported.
Case report: We report a male patient who was diagnosed with Williams syndrome (FISH method) at the age of 2.5 years old. He developed the characteristic face with broad forehead, underdeveloped chin, short nose and full cheeks in combination with hypercalcemia, supravalvular aortic stenosis and hypothyroidism. During development, the patient showed slow physical growth, mild mental retardation, hypersociality and hearing disorders and at the age of 7 years old the patient demonstrated transaminasemia and hepatosplenomegaly. Abdominal computed tomography showed hepatomegaly with a lobular margin due to cirrhosis, splenomegaly and the presence of ectopic varices with a palpable splenoportal axis, while gastroscopy revealed Grade 1 esophageal varices. Further serology, genetic mutation and metabolic disorders tests were performed without revealing findings suggestive of the etiology of cirrhosis. Eventually, a percutaneous liver biopsy revealed extensive bridging fibrosis and the formation of incomplete regenerative nodules with macrovesicular steatosis, without specific chronic liver disease as the cause of cirrhosis. No other case of Williams syndrome with development of liver cirrhosis has been described in the literature before. Having ruled out the classic causes of cirrhosis the suspected mechanism may be genetic or metabolic in the context of the syndrome.
Conclusion: Williams syndrome is a complex disorder with variable involvement of different organs, so further research is needed to identify the factors responsible for these variations.

References

1. Morris CA, Mervis CB. Williams syndrome and related disorders. Annu Rev Genomics Hum Genet. 2000;1:461-84.
2. Pober BR. Williams-Beuren syndrome. N Engl J Med. 2010 Jan 21;362(3):239-52.
3. Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M, Pober BR. Williams syndrome. Nat Rev Dis Primers. 2021 Jun 17;7(1):42.
4. Twite MD, Stenquist S, Ing RJ. Williams syndrome. Paediatr Anaesth. 2019 May;29(5):483-490.

Disclosure

Conflict of Interest disclosure
The authors declare that there are not conflicts of interest.

Introduction

Dysphagia is a common condition with consequences surpassing the physical dimension and extending to the patient’s psychological, personal, and professional life. However, when referring to non-obstructive esophageal dysphagia (NOD) and motility disorders, data is still scarce.

Aims & Methods

Our study consists in a prospective and multicentric evaluation of the severity of dysphagia and its impact on quality of life, that was measured with the Eckardt, EuroQol-5D (TTO and VAS) and PROMIS GI Disrupted Swallowing (PDS) scores, in patients with NOD and underlying motility disorders. We included 373 individuals (250 with NOD and 123 without dysphagia).

Results

Among patients with NOD, 97 had esophagogastric junction (EGJ) outflow disorders on manometry according to Chicago V4.0, 24 spastic motility disorders, 38 hypomotile disorders and 91 normal motility. Compared with non-dysphagic individuals, dysphagic patients had significantly worse scores of both EuroQol-5D and PDS (p-values <0.001).
Among esophageal motility disorders, Eckardt score was significantly different between groups (p-value <0.001) as determined by ANOVA. Specifically, it was significantly higher in EGJ outflow disorders (mean of 5.2), when compared to spastic motility disorders (mean of 3.3) or dysphagic patients with normal motility (mean of 3.2).
With respect to Patient-reported outcomes, PDS score was statistically different between groups (p-value 0.003), being higher in the EGJ outflow disorders (mean T-score of 64.1) when compared to hypomotiity disorders (mean of 60.2) and dysphagic patients with normal motility (mean of 60.3).
Regarding patient-reported quality of life, there were no differences between groups in terms of EuroQol-5D TTO or VAS score (p-value of 0.156 and 0.368, respectively).

Conclusion

Our findings highlights the impact of NOD on the quality-of-life of patients. Although physician and patient reported symptoms’ severity were worse on EGJ outflow disorders, overall quality of life seems equally affected among all esophageal motility profiles.