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Introduction

Human leucocyte antigen (HLA) strongly associated with autoimmune diseases. In some studies it was demonstrated, that achalasia is an autoimmune disease and associated with genetic factors.

Aims & Methods

The aim of our study was to investigate the association of genes of the HLA system in patients with achalasia and in healthy citizens of Russian Federation.
Material and methods: 140 patients with achalasia were included in this study: 75 females (55%), age from 18 to 75. The diagnosis of idiopathic achalasia was established by upper endoscopy and high resolution water-perfused manometry (MMS, Netherland). Healthy 332 volunteers from 21 to 74 y.o. (asymptomatic) were included in this study: there were 305 females.The DNA from blood samples was isolated using QIAamp DNA Blood Mini Kit (Qiagen, Germany) according to the manufacturer's recommendations. The concentration of DNA samples was measured by fluorimetric method on a Qubit 4 fluorimeter using the Qubit dsDNA BS Assay Kit (Thermo Fisher Scientific, USA). All patients underwent HLA typing by massively parallel sequencing (NGS): HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB1, HLA-DPB1, on the platform MiSeq (Illumina, USA) v.2, Omixon. The analysis of the HLA gene sequences obtained as a result of sequencing was carried out using a computer program TypeStream Visual Software (TSV) (One Lambda, USA), and database IPD-IMGT/HLA.

Results

The allelic variants HLA-A*02, HLA-B*37, HLA-B*39, HLA-C*5, HLA-C*7, HLA-C*14, HLA-C*15, HLA-DRβ1*01, HLA-DRβ1*03, HLA-DRβ*08, HLA-DRβ1*13, HLA-DPβ1*06, HLA-DPβ1*11, HLA-DPβ1*05, HLA-DPβ1*15 and HLA-DQβ1*04 were evaluated equally in healthy volunteers and achalasia patients. The allelic variants HLA-A*66, HLA-B*15, HLA-B*44, HLA-B*52, HLA-C*12, HLA-C*16, HLA-DPβ1*01, HLA-DPβ1*02, HLA-DPβ1*23, DRβ1*11, HLA-DRβ1*14, DQβ1*06 were found statistically more frequently in patients with achalasia than in healthy volunteers. The allelic variants HLA-A*11, HLA-A*23, HLA-A*25, HLA-A*26, HLA-B*7, HLA-B*57, HLA-C*3, HLA-C*06, HLA-DPβ1*03, HLA-DPβ1*13, HLA-DPβ1*17, DRβ1*13, HLA-DRβ1*15 were insignificantly evaluated more frequently in group with achalasia than in healthy volunteers.

Conclusion

The absence of differences in some allelic variants of genes of HLA in patients with achalasia and healthy volunteers confirm that they are not specific for achalasia in Russian Federation. The statistical difference in predominance of some allelic variants of HLA system indicates, that these findings should be compare with medical history and symptoms. After that these allelic variants of genes of HLA can be consider as a prognostic factor.

THE OCCURANCE OF GENES OF THE HLA SYSTEM IN PATIENTS WITH ACHALASIA AND HEALTHY VOLUNTEERS IN RUSSIAN FEDERATION

Elen Valitova 1, Anzhelika Chegodar 2, Dmitry S. Bordin 3, Mikhail Chanyshev 4, Natalia Vlasenko 4, Albina Glushchenko 5, Kamil Khafizov 4, Olga Berezina 2, Natalya Bodunova 2

1 A.S. Loginov Moscow Clinical Scientific Center, Moscow, Russian Federation|||Organizational and Methodological Department on Gastroenterology of Moscow Department of Health, 111111, Russian Federation

2 A.S. Loginov Moscow Clinical Scientific Center, Moscow, Russian Federation

3 A.S. Loginov Moscow Clinical Scientific Center, Moscow, Russian Federation|||Russian University of Medicine, Moscow, Russian Federation|||Tver State Medical University, Tver, Russian Federation

4 Central Research Institute for Epidemiology of the Federal Service for Surveillance of Consumer Rights Protection and Human Wellbeing, Moscow, Russian Federation

5 Moscow Institute of Physics and Technology, National Research University, Dolgoprudny, Russian Federation|||Central Research Institute for Epidemiology of the Federal Service for Surveillance of Consumer Rights Protection and Human Wellbeing, Moscow, Russ

Conference

UEG Week Vienna 2024

Topics

Oesophagus

Submission format

Abstract

Session

OESOPHAGEAL, GASTRIC AND DUODENAL (Posters)

Citation

United European Gastroenterology Journal 2024; 12 (Supplement 8)

Published

2024

UEG Standards and Guidelines

Clinical Practice Guideline

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Abstract

Introduction

Achalasia is a primary motor disorder of the oesophagus characterised by absence of peristalsis and insufficient lower oesophageal sphincter relaxation. With new advances and developments in achalasia management, there is an increasing demand for comprehensive evidence-based guidelines to assist clinicians in achalasia patient care.

Methods
These guidelines were established in accordance with the Appraisal of Guidelines for Research and Evaluation (AGREE) II instrument. A systematic review of the literature was performed and the certainty in the evidence was assessed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology. Recommendations were voted upon using a nominal group technique.

Results
These guidelines specifically focus on the definition of achalasia, treatment aims, diagnostic tests, medical, endoscopic and surgical therapy, management of treatment failure, follow-up and oesophageal cancer risk.

Conclusion
These multidisciplinary UEG and ESNM guidelines provide a comprehensive evidence-based framework with recommendations on the diagnosis, treatment and follow-up of adult achalasia patients.

Keywords: Dysphagia; oesophagus; manometry; myotomy; motility; esophagus

European Guideline on Achalasia – UEG and ESNM recommendations

Renske Anne Berndien Oude Nijhuis, Giovanni Zaninotto, Sabine Roman, Guy E. Boeckxstaens, Paul Fockens, Miranda Langendam, Andrew Plumb, André Smout, Eduardo Targarona, Alexander Trukhmanov, Bas L.A.M. Weusten, Arjan Bredenoord

Publisher

European Society of Neurogastroenterology and Motility

Guideline

Clinical Practice Guideline

Topics

Neurogastroenterology & Motility Oesophagus

Citation

United European Gastroenterology Journal 2020, Vol. 8(1) 13–34

Published

2020

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Introduction

An autoimmune mechanism take part an important role in the pathogenesis of achalasia, which is directly related to histocompatibility class antigens. There is a correlation of the disease with HLA class II.

Aims & Methods

The aim of our study was to investigate the association of genes of the HLA system and idiopathic achalasia.
Subjects and methods: 140 patients, who referred to our Centre, were included in this study: 75 females (55%), age from 18 to 75. The diagnosis of idiopathic achalasia was established by upper endoscopy and high resolution water-perfused manometry (MMS, Netherland). The DNA from blood samples was isolated using QIAamp DNA Blood Mini Kit (Qiagen, Germany) according to the manufacturer's recommendations. The concentration of DNA samples was measured by fluorimetric method on a Qubit 4 fluorimeter using the Qubit dsDNA BS Assay Kit (Thermo Fisher Scientific, USA). All patients underwent HLA typing by massively parallel sequencing (NGS): HLA-A, HLA-B, HLA-C, HLA-DQB1, HLA-DRB3, HLA-DRB4, HLA-DRB1, HLA-DRB5, HLA-DQA1, HLA-DPA1, HLA-DPB1, on the platform MiSeq (Illumina, USA) v.2, Omixon. The analysis of the HLA gene sequences obtained as a result of sequencing was carried out using a computer program TypeStream Visual Software (TSV) (One Lambda, USA), and database IPD-IMGT/HLA.

Results

The most frequent allelic variant was HLA-DPA1 *01:03 - in 84.6% patients. The study of the HLA-A gene revealed allelic variants: -A*01:01 in 13.2% of patients, -A*03 and -A*01 - 11%. Also we revealed allelic variants of the HLA-B gene: -B*44:02 in 7.5% of patients, -B*15:01 - 6.4%. The study detected allelic variants of the HLA-C : -C*12:03 in 13,6% subjects, -C*07:02 - 12,1%, -C*06:02 - 11,4%, -C*04:01 - 10,7%. The study of the HLA-DQA1 gene revealed allelic variants: DQА1*05:05 - 16,7%, -DQА1*01:02 - 15,7%, -DQА1*02:01 - 13,9% and -DQА1*01:03 - 13,2%. The study of the HLA-DQB1 gene detected allelic variants: -DQB1*03:01 and -DQB1*03:358 in 19.2% of patients. The study of the HLA-DPB1 gene revealed allelic variants: -DPB1*1322:01 and -DPB1*1321:01 in 16% of patients. The study of the HLA-DRB1 gene detected allelic variants: -DRB1*07:01 and -DRB1*7:139 in 15% of patients. The study of the HLA-DRB3 gene evaluated allelic variants: HLA-DRB3*01:01-22.5%, HLA-DRB3*02:168-22.1%, HLA-DRB3*02:02, -DRB3*02:144 and -DRB3*02:188- 21.4%. The study of the HLA-DRB4 gene revealed allelic variants: -DRB4*01:03 - 32.9%, -DRB4*01:134 - 31.4%. The study of the HLA-DRB5 gene revealed allelic variants: -DRB5*01:01 and HLA-DRB5*01:126 in 16.4% of patients with achalasia, -DRB5*01:02 - 10.7%.

Conclusion

Patients with achalasia have certain allelic variants of the HLA-system genes that play an important role in autoimmune reactions. These allelic variants may have some prognostic value. The association between HLA-system allelic variants and achalasia merits study in large cohorts of patients.

ASSOCIATION OF GENES OF THE HLA SYSTEM IN PATIENTS WITH IDIOPATHIC ACHALASIA IN RUSSIA

Elen Valitova 1, Anzhelika Chegodar 1, Dmitry Bordin 2, Natalya Bodunova 1, Kirill Shishin 1, Ivan Kanischev 1

1 A.S.Loginov Moscow Clinical Scientific Centre, Moscow, Russian Federation

2 A.S.Loginov Moscow Clinical Scientific Centre, Moscow, Russian Federation|||Moscow State University of Medicine and Dentistry, Moscow, Russian Federation|||Tver State Medical University, Tver, Russian Federation

Conference

UEG Week Copenhagen 2023

Topics

Oesophagus

Submission format

Abstract

Session

PP 01 Oesophageal, gastric and duodenal disorders (Posters)

Citation

United European Gastroenterology Journal 2023; 11 (Supplement 8)

Published

2023

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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.

EVALUATION OF DIET AND EATING HABITS IN PATIENTS WITH ESOPHAGEAL ACHALASIA

Alessandra Cesarini 1, Giulia Scalese 1, Emanuela Ribichini 1, Chiara Mocci 1, Danilo Badiali 1

1 Sapienza University, Rome, Italy

Conference

UEG Week Vienna 2024

Topics

Oesophagus

Submission format

Abstract

Session

Dysphagia: Diagnostics and therapeutics (Posters)

Citation

United European Gastroenterology Journal 2024; 12 (Supplement 8)

Published

2024

UEG Presentation

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Achalasia: Clinical presentation and diagnosis

Sabine Roman 1

1 Hôpital Edouard Herriot, Lyon, France

Event

UEG Postgraduate Teaching Programme Vienna 2024

Topics

Education & Training Endoscopy Neurogastroenterology & Motility Oesophagus Primary Care Surgery

Session

Benign dysphagia: Hard to swallow?

Citation

United European Gastroenterology Journal 2024; 12 (Supplement 8)

Published

2024

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Introduction

Esophageal achalasia (EA) is a rare functional disorder caused by neuromuscular dysfunction at the esophagogastric junction, characterized by impaired diastole of the lower esophageal sphincter (LES) and loss of distal esophageal peristaltic function. The etiology of the disease is still unknown, and the current etiological hypothesis is that the loss of esophageal neurons due to ganglion inflammation caused by an abnormal immune response to infection in a genetically susceptible background affects the function of the muscles innervated by it. Previous studies have suggested that genetic susceptibility may be strongly associated with the onset of achalasia. Based on this platform, our group is one of the largest EA clinical centers in China, and we used whole-exome sequencing and technology validation to screen out a new genetic mutation locus FAM129C from 22 Trios core families with achalasia. This paper intends to investigate whether Fam129c mutant mice have an EA phenotype, and to investigate the pathogenic mechanism of this mutation with multi-omics. This study will provide a new basis for uncovering the genetic cause of EA, a new mouse model for basic EA research, and potential therapeutic targets for the treatment of EA.

Aims & Methods

The new pathogenic genes inherited from the family line of achalasia in the Han population were screened, and the mutant mice were constructed by CRSPR/Cas9 technology. To verify whether the mutant mice have the cardia apopause phenotype, and to explore the specific mechanism of disease in mutant mice through multi-omics joint analysis and in vivo and in vivo validation experiments.

Results

Fam129c mutant mice were successfully constructed, and it was confirmed that they had EA phenotype from anatomical to functional levels. Immunofluorescence results showed that FAM129C was localized in B cells. Abnormal activation of plasma cells in mutant mice, specific deletion of B cells can partially alleviate the achalasia phenotype of mutant mice. Transcriptome sequencing and single-cell sequencing results revealed a significant enrichment of B cell subsets, and differential genes elevated in mutant mice mainly included immunoglobulins. Single-cell BCR repertoire sequencing analysis showed that mutant mice had increased V-J pairing, increased clone number and clone types, and increased immunoglobulin secretion. Further analysis of proteomics results found that the anti-inhibitory neuron autoantibody GABA-AR was elevated in serum and in situ tissue of mutant mice, and the results of ELISA verification in mice were consistent with it. IvIgG treatment of mutant mice in vitro and in vivo can partially alleviate the EA phenotype.

Conclusion

A new potential mutated genes FAM129C in achalasia were identified, and Fam129c mutant mice conforming to the population mutation pattern were established. Fam129c mutant mice have an EA phenotype, and their anatomical features, pathological changes in the esophageal intermuscular plexus and diastolic function of the lower esophagus are consistent with EA patients. Fam129c mutant mice are pathogenic through a B-cell-dependent pathway. Abnormal activation of plasma cells in mutant mice, increased secretion of immunoglobulins, especially anti-neuronal autoantibody GABA-AR, and neuromuscular dysfunction after specific injury of esophageal inhibitory intermuscular neurons, eventually leading to the onset of achalasia.

FUNCTIONAL VERIFICATION AND MECHANISM OF FAM129C GENE MUTATION IN ACHALASIA

Xiaoqing Li 1, Zhi-Qiang Liu 1, Weifeng Chen 1, Pinghong Zhou 1, Quan-Lin Li 1

1 Zhongshan Hospital, Shanghai, China

Conference

UEG Week Copenhagen 2023

Topics

Oesophagus

Submission format

Abstract

Session

PP 01 Oesophageal, gastric and duodenal disorders (Posters)

Citation

United European Gastroenterology Journal 2023; 11 (Supplement 8)

Published

2023

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Introduction

Achalasia is a primary motility disorder, which presented by dysphagia. The most effective treatment of the disease is surgical (peroral myotomy or laparoscopic myotomy). However, there are few studies which assess the changes in esophageal motility after surgery.

Aims & Methods

The aim of our study was evaluating the changes in esophageal manometry in patients with achalasia after peroral endoscopic myotomy (POEM).
Subjects and methods: 43 patients with achalasia were consequently observed before and 1 year after POEM. Females predominated (28 subjects). All patients examined endoscopically, then high resolution manometry (HRM) was performed by Solar™ GI (MMS/Laborie, Netherland). Achalasia was defined as described in Chicago Classification 4.0. Eight patients had I type of achalasia, 24 – II type and 11 – III type.

Results

The median Eckardt score was 7 on the start and 2 – after POEM in 35 patients (group A). However, 8 patients were dissatisfied with the surgery (4 pts with II type achalasia and 4 – III type). They continued to suffer from dysphagia and/or noncardiac chest pain (group B).
According to HRM the mean resting pressure of LES in group A reduced 2 folds from 39,1±2,7 mmHg to 18,9±1,4 mmHg. Also we revealed the dramatic decrease in integrated residual pressure (IRP) from 22,8±0,7 mmHg to 9,8±0,6 mmHg and DCI: from 1865,5±286,9 to 128,2±53,8. In a group B the mean resting pressure of LES reduced from 48,8±2,4 mmHg to 33,6±2,4 mmHg. The integrated residual pressure (IRP) decreased from 22,8±0,7 mmHg to 15,01±0,6 mmHg and DCI: from 2999,6±417,6 to 1038,1±107,7.
Even though, we didn’t observed the peristaltic waves in two groups before and after POEM as a normal manometric criteria: the consistent contraction of upper part of esophagus and then lower part of esophagus. Besides, HRM evaluated persisting spastic contraction in the middle and lower part of esophagus in patients with type III achalasia from group B. Two patients from group B with type II had good results in esophageal manometry.

Conclusion

The reduction of resting pressure, integrated resting pressure and distal contractile interval in several times can be accepted as criteria of POEM effectiveness. Besides, in patients with III type of achalasia we must assess the absence of spastic contraction as additional criteria of POEM satisfaction.

HIGH RESOLUTION ESOPHAGEAL MANOMETRY IN EVALUATION OF EFFICACY OF PERORAL ENDOSCOPIC MYOTOMY

Elen Valitova 1, Olga Berezina 2, Dmitry S. Bordin 3, Ivan Kanischev 2, Kirill Shishin 2

2 A.S. Loginov Moscow Clinical Scientific Center, Moscow, Russian Federation

3 A.S. Loginov Moscow Clinical Scientific Center, Moscow, Russian Federation|||Russian University of Medicine, Moscow, Russian Federation|||Tver State Medical University, Tver, Russian Federation

Conference

UEG Week Vienna 2024

Topics

Oesophagus

Submission format

Abstract

Session

OESOPHAGEAL, GASTRIC AND DUODENAL (Posters)

Citation

United European Gastroenterology Journal 2024; 12 (Supplement 8)

Published

2024

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