Introduction

Esophageal atresia with tracheoesophageal fistula (EA-TEF) is a rare congenital malformation. The incidence of TEF is 1.3-4.6 cases per 10,000 live births. The specific etiology of EA-TEF is unknown. Environmental risk factors such as maternal use of medications and alcohol consumption during pregnancy are suggested. Genetic factors have also been described, especially among the syndromic types such as VACTERL, CHARGE, and Down syndrome, but less among non-syndromic types.

Aims & Methods

Aim: To examine the association between non-syndromic EA-TEF and consanguinity.
Methods: A retrospective study comparing the incidence of EA-TEF between low-consanguineous Jewish population and high-consanguineous Bedouin population. All patients were treated at Soroka University Medical Center, the only tertiary medical center in southern Israel.

Results

During the years 2000-2022, 579,130 children were born in southern Israel, 386,915 (67%) were Jewish and 192,215 were Bedouin Muslims. A total of 96 patients were diagnosed with EA-TEF, 83 of them were non-syndromic EA-TEF. The incidence of non-syndromic EA-TEF was 1.43 cases per 10,000 live-births and was statistically higher among the Bedouin population (2.65 vs. 0.83 cases per 10,000 live-births, P<0.001). The consanguinity rate among the Bedouin group was higher comparing with the Jewish (71% vs 0% P<0.001). There were no differences in other risk factors.

Conclusion

The incidence of EA-TEF is exceptionally higher among the Bedouin population that live in the same geographic region and the same medical access as the Jewish population, proposing consanguinity as an important/essential risk factor of EA-TEF.

References

1. Prevalence of consanguineous marriages and associated factors among Israeli Bedouins. Wasef Na’amnih, Orly Romano-Zelekha et al.
2 . Risk factors for congenital heart defects in two populations residing in the same geographic area: a long-term population-based study, Southern Israel. Author(s) Robinson, R,Stavsky, et. al.
4. Jaber L, Bailey-Wilson JE, et. al. (1994) Consanguineous matings in an Israeli-Arab community. Arch Pediatr Adolesc Med 148:412–415
5. Weitzman D, Shoham-Vardi I et. al. (2000) Factors affecting the use of prenatal testing for fetal anomalies in a traditional society. Community Genetics 3:61–70
6. Cassina M, Ruol M, et al. Prevalence, characteristics, and survival of children with esophageal atresia: A 32-year population-based study including 1,417,724 consecutive newborns. Birth Defects Res A Clin Mol Teratol 2016; 106:542.
7. Oesophageal atresia, tracheooesophageal fistula, and the VACTERL association: review of genetics and epidemiolog. C Shaw-Smith. J Med Genet 2006;43:545–554. doi: 10.1136/jmg.2005.038158
8. Oesophageal atresia. van Lennep M, Singendonk MMJ, et. al. Nat Rev Dis Primers. 2019 Apr 18;5(1):26. doi: 10.1038/s41572-019-0077-0. PMID: 31000707.
9. Esophageal morbidity in patients following repair of esophageal atresia: A systematic review. Comella A, Tan Tanny SP, Hutson JM, et al. J Pediatr Surg. 2021;56(9):1555-1563. doi:10.1016/j.jpedsurg.2020.09.010

Disclosure

Conflict of Interest: None

Clinical Case Summary

A 67 years old male patient had orotracheal intubation due to COVID-19 infection and respiratory insufficiency. This led to the onset of a tracheoesophageal fistula (caused by the continuous overpressure of the cuff). At admission to our Hospital, the patient was in poor clinical condition and was sent to the intensive care unit. At endoscopy, a 30 mm fistula was found.
After a first multidisciplinary evaluation, surgical treatment was attempted, but this was unsuccessful in the closure of the fistula.
In second place endoscopic suturing with Apollo Overstitch was done (double-channel gastroscope), but also this was unsuccessful in completely closing the fistula and was repeated after 5 days. On the control endoscopy after 3 days, the fistula was still there
A multidisciplinary team composed of endoscopists, anesthesiologists, bronchoscopists, and cardiologists discussed the case again. The decision was to place an Amplatzer atrial septal occluder to close the fistula (Abbott, Illinois, USA). The procedure was technically and clinically successful, and the fistula was finally closed. The patient was weaned off from intubation and then O2 therapy and was discharged after a long rehabilitation.
The stent remained in place. The patient could eat and breathe without difficulty. At 12 months follow-up the patient is completely autonomous, eats everything and is in excellent clinical condition.

Introduction

Some achalasia patients exhibit esophageal contractile activity on follow-up after treatment, yet its importance remains unclear.

Aims & Methods

We aimed to identify factors associated with presence of contractility after treatment and to assess its impact on timed barium esophagram (TBE) and clinical outcomes. Patients with type I or II achalasia on baseline high-resolution manometry (HRM) who completed HRM, TBE, and functional lumen imaging probe (FLIP) after treatment were retrospectively identified. The distal contractile integral (DCI) was calculated for the 10 supine swallows using the smart box tool with the isobaric contour set at 20 mmHg and median values were calculated. Contractility was defined on post-treatment HRM as presence of at least 1 supine swallow with DCI ≥100 mmHg∙s∙cm in accordance with CC v4.0¹. On FLIP, esophago-gastric junction (EGJ) opening was assessed applying the EGJ distensibility index (EGJ-DI) at the 60ml fill volume and measuring the maximum EGJ diameter that was achieved at the 60ml or 70ml fill volume. The classification of EGJ opening with FLIP Panometry used prespecified validated thresholds². For TBE, 200 mL of low-density barium sulfate were administered and the height of the barium column was measured vertically from the EGJ at 1 and 5 minutes.

Results

122 patients were included (mean age 48 ± 17 years, 50% female). At follow-up evaluation (median 13 months) after treatment (54% peroral endoscopic myotomy, 24% pneumatic dilation, 22% laparoscopic Heller myotomy), 61 (50%) patients had contractility on HRM, with a median (IQR) DCI of 297 (183-545) mmHg∙s∙cm (median swallows with contractility: 80%). Patients with evidence of contractility (compared to those without contractility) more frequently had a pre-treatment diagnosis of type II achalasia (84% vs 57%, p=0.001) and more frequently had a normal/borderline-normal EGJ opening (92% vs 66%, p<0.001). 14 patients (23%) had spastic contractility (≥20% swallows with DL <4.5 s) and it was not associated with higher TBE column heights at 1 minute (3 vs 4 cm, p=0.422) or 5 minutes (0 vs 0 cm, p=0.506) when compared to non-spastic contractility. In the subgroup of patients with post-treatment integrated relaxation pressure <15mmHg and normal EGJ opening on FLIP (n=53), those with contractility had lower median column heights on TBE at 1 minute (4 vs 7 cm, p=0.002) and 5 minutes (0 vs 5 cm, p=0.001). These patients also had higher median FLIP 60 ml pressures (29 vs 23 mmHg, p=0.024). Eckardt scores were not significantly different across groups.

Conclusion

Esophageal body contractility appears to contribute to improved esophageal emptying after treatment of non-spastic achalasia. Contractility more frequently occurs in type II achalasia and seems facilitated if adequate EGJ opening is achieved after treatment. Avoidance of unnecessary extended myotomy may help preserve potential for contractility and improved outcomes in these patients.

References

1. Yadlapati R, Kahrilas PJ, Fox MR, et al. Esophageal motility disorders on high-resolution manometry: Chicago classification version 4.0(©). Neurogastroenterol Motil 2021;33:e14058.
2. Carlson DA, Prescott JE, Baumann AJ, et al. Validation of Clinically Relevant Thresholds of Esophagogastric Junction Obstruction Using FLIP Panometry. Clin Gastroenterol Hepatol 2022;20:e1250–e1262

Disclosure

John E. Pandolfino and Peter J. Kahrilas (with Northwestern University) hold shared intellectual property rights and ownership surrounding FLIP Panometry systems, methods, and apparatus with Medtronic, Inc; Dustin A. Carlson is a speaker for Medtronic, and a consultant for Medtronic and Phathom Pharmaceuticals, and shares a licensing agreement with Medtronic. Peter J. Kahrilas has consulted for AstraZeneca, Ironwood, Reckitt, and Johnson & Johnson; and John E. Pandolfino has consulted for Sandhill Scientific/Diversatek, Medtronic, Torax, and Ironwood, has been a speaker for Sandhill Scientific/Diversatek, Takeda, Astra Zeneca, Medtronic, and Torax, has received grant support from Sandhill Scientific/Diversatek, and owns a patent and license with Medtronic. Edoardo Vespa, Domenico A. Farina and Andree H. Koop have no disclosures.

Introduction

Esophageal Achalasia (EA) is a rare esophageal motility disorder, characterized by impaired peristalsis and incomplete relaxation of the Lower Esophageal Sphincter (LES) in response to swallowing​​​​​. Key symptoms of the disease include dysphagia, food regurgitation, and retrosternal pain, significantly impacting the quality of life (QoL) and often leading patients to restrict their food intake. Consequently, EA patients often adopt self-managed dietary practices that may result in nutritional imbalances and deficiencies, given the lack of specific dietary guidelines.

Aims & Methods

This retrospective study aimed to describe and evaluate the dietary patterns, eating habits, and nutritional status of achalasic patients. Additionally, the secondary aim was to explore potential associations between food rheology and symptomatology. Patients with a manometric diagnosis of EA were recruited from our outpatient gastrointestinal pathophysiology center. Disease severity was assessed with Eckardt Symptoms Score (ESS), symptoms were evaluated with Modular Questionnaire Roma IV and QoL with the MD Anderson Dysphagia Inventory (MDADI). The MDADI outcomes were stratified into severe, moderate, mild and not perceived disability. Patients also filled out a food diary for 15 days, recording ingested food for each meal and symptoms onset. Estimated caloric intake and macronutrient composition were compared to those recommended by the Italian Society of Human Nutrition (SINU).

Results

Forty-three achalasic patients were included (M 24, F 19, mean age 56.7 +- 15.8 yrs). The median BMI was 23.7 (18.8-32.2), 34 patients (79%) had an active disease (ESS ≥ 3). Most patients reported mild to moderate disability (respectively 42% and 35%), while 21% reported severe disability and 2% perceived no disability. Disease activity, measured by ESS, strongly correlated with perceived disability (r= 0.59; p <0.0001), while no significant correlation was found between ESS and BMI. The diary analysis showed a mean caloric intake of 1572±373 kcal versus the estimated needs of 2293,71±374 kcal based on anthropometric parameters and physical activity, resulting in a mean caloric deficit of 720 ± 416 kcal (p<0.0001). Macronutrient analysis also reported an unbalanced distribution: carbohydrates 43.3%±7.3 vs recommended 55-59%, protein 18.2%±4.5 vs 15-18%, total fat 37.6%±7.7 vs 26–27% and fibre 14g±5.2 vs 25-30g. Solid food caused significantly more symptoms than semiliquid and liquid ones: dysphagia (35.5% vs 3.5% vs 5.7%, p<0.0001), chest pain (10% vs 12.1% vs 0.2%, p<0.0001), regurgitation (8.9% vs 1.4% vs 1.9%, p=0.001), cough (5% vs 0.2% vs 0.6%, p=0.0002). Bread, pasta, and pizza (50-60%), fresh fruit (44%), lean meat (39.5%), crackers, snacks, and vegetables (30-35%) were the most commonly reported triggers of dysphagia. Additionally, 60% of patients reported worsened symptoms with cold foods, while 53% reported improvement with hot foods.

Conclusion

This study underscores the significant impact of EA on QoL, influenced by disease activity. Achalasic patients tend to modify their diets to minimize symptoms, favoring easily swallowable soft and fatty foods while reducing intake of solid foods rich in carbohydrates and fiber. Thus, comprehensive nutritional assessment is strongly recommended for EA patients to mitigate dietary imbalances and manage possible deficiencies promptly.

Clinical Case Summary

We report the case of a 54-year-old male with harmful alcohol consumption who presented to the emergency department for hematemesis with acute anaemisation. After stabilising the patient, an urgent gastroscopy was performed and large esophageal varices with red points were found, over which elastic bands (EVBL) were placed.
Hours after the endoscopic procedure, the patient presented a new episode of hematemesis and hemodynamic instability. After resucitation, he was transferred to the care unit for a new gastroscopy. In it, four small varicose cords with constant drooling of blood and clots were observed. Given the impossibility of EVBL, the patient was fitted with a fully covered self-expanding metal stent (SEMSs), achieving clinical stability for him.
Following this procedure, an etiological study was carried out, concluding that portal cavernomatosis secondary to chronic pancreatitis was the cause of the current clinical case. Given the etiology and what happened, five days after the endoscopic procedure, endovascular treatment was performed by Interventional Radiology with complete embolisation of oesophageal varices and subsequent recanalisation of the splenoportal axis by angioplasty and placement of a vascular stent. After that, the oesophageal stent was removed without complications. Six months later, the patient underwent clinical and endoscopic follow-ups, showing a lack of esophageal varices and other data of portal hypertension.
According to the latest consensus of Baveno VII and ESGE for the management of variceal hemorrhage, SEMSs implantation is considered the safest option as a bridge therapy to a more definitive treatment of refractory variceal bleeding; allowing time for etiological investigation and appropriate patient management^1-2.

References

1. ​de Franchis R, Bosch J, Garcia-Tsao G et al. Baveno VII – Renewing consensus in portal hypertension. J Hepatol 2022; 76: 959-74 https://doi.org/10.1016/j.jhep.2021.12.022
2. ​Gralnek IM, Camus-Duboc M, García-Pagán JC et al. Endoscopic diagnosis and managemet of esophagogastric variceal hemorrhage: European Society of Gastrointestinal Endoscopy (ESGE) Guideline. Endoscopy 2022; 54 (11): 1094-1120 https://doi.org/10.1055/a-1939-4887