Hereditary gastrointestinal polyposis syndromes

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UEG Online Course

not accredited

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Free for all myUEG account holders. Your access level is set automatically based on your occupation. Medical professionals get full access to all content. If you are a non-medical user, you can only access UEG Week content from congresses you attended.

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Hereditary gastrointestinal polyposis syndromes are rare diseases that confer a significant risk of colorectal and other cancers. Correct diagnosis is needed to ensure patients undergo appropriate screening and follow-up for cancer prevention, and to ascertain risk in family members. Multidisciplinary management is essential to ensure appropriate clinical choices are made, and the involvement of a clinical geneticist is mandatory.

This online course addresses the various types of hereditary gastrointestinal polyposis syndrome. The genetic basis of each syndrome is considered, along with their presentation, extracolonic features, cancer risk, diagnosis, screening, surveillance and treatment options.

Learning objectives

To become familiar with hereditary gastrointestinal polyposis syndromes
To correctly diagnose hereditary gastrointestinal polyposis syndromes
To appropriately manage hereditary gastrointestinal polyposis syndromes

Target audience

This course is suitable for gastroenterologists in training and physicians and surgeons in other disciplines, as well as nurses, biotechnicians and advanced-years’ medical students who have an interest in gastroenterology.

Hereditary gastrointestinal polyposis syndromes

Luigi Ricciardiello

Event

Hereditary gastrointestinal polyposis syndromes

Topics

Digestive Oncology

Accreditation status

not accredited

Duration

1 hour

Published

2018

UEG Online Course

not accredited

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Capsule endoscopy (also known as wireless capsule endoscopy or video capsule endoscopy) allows visualisation of the entire small intestine. The procedure has gained popularity because it is not invasive in the same way as traditional endoscopy and it is generally safe and well tolerated. Common indications for the use of capsule endoscopy include occult bleeding and iron-deficiency anaemia, among others.

This online course aims to provide a full introduction to capsule endoscopy, capsule reporting software and the potential complications that may be encountered. Eight cases are used to illustrate the role of capsule endoscopy. The course is based on a presentation (with 35 accompanying slides) given by Uwe Seitz as part of a practical skills training session recorded in June 2015 at the United European Gastroenterology Summer School in Prague, Czech Republic.

Learning objectives

Understand the basics of how to use capsule reporting software.
Know how to deal with the most common complications of capsule endoscopy.
Be aware of the most common indications for capsule endoscopy.
Understand the common pathologies encountered at capsule endoscopy.
Be aware of further investigations that may be recommended following the identification of small-bowel lesions.
Appreciate the need for a thorough knowledge of the patient’s history when interpreting capsule findings.
Know the role of capsule endoscopy in the investigation of patients with iron-deficiency anaemia of unknown origin (both obscure occult bleeding and overt occult bleeding).
Understand the interface between capsule endoscopy and upper digestive endoscopy and enteroscopy.

Target audience

Accredited Gastroenterologists, Gastroenterologists in training, Radiologists and GI surgeons.

A primer in capsule endoscopy

Uwe Seitz

Event

A primer in capsule endoscopy

Topics

Endoscopy

Accreditation status

not accredited

Duration

1 hour

Published

2015

UEG Podcast Episode

UEG Podcast

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Best of UEG Week - Nursing with Mary Phillips and Leigh Donnelly

Mary Phillips, Leigh Donnelly

Topics

Primary Care

Published

2025

UEG Online Course

accredited

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With the introduction of population-based screening programs in several countries, the proportion of patients diagnosed with early invasive colorectal cancer (T1 CRC) has been vastly increasing. There are several major challenges in clinical management of this patient group, resulting in significant practice variations among physicians.

This online course covers the most relevant aspects of clinical management of T1 CRC patients, and provides an overview of latest insights and current knowledge gaps. To facilitate the learning process, several questions on real-life patient cases have been included in which learners can bring the acquired knowledge directly into practice.

Learning objectives

To understand how to reach a conclusive diagnosis of GORD
To know how to reach a conclusive diagnosis of no GORD
To understand how to deal with an inconclusive diagnosis

Target audience

This course is suitable for gastroenterologists, surgeons, pathologists, nurses and any other healthcare professionals interested in, or actively involved in clinical management of T1 CRC patients.

This course was developed by Alexandra M.J. Langers, Jurjen J. Boonstra, James C.H. Hardwick, Richard (H.) Dang et al. in receipt of an Activity Grant from UEG.

Management of early-invasive (T1) colorectal cancer

Alexandra Langers, Jurjen J. Boonstra, James Hardwick

Event

Management of early-invasive (T1) colorectal cancer

Topics

Digestive Oncology

Accreditation status

accredited

Duration

1 hour

Published

2020

UEG Standards and Guidelines

Clinical Practice Guideline

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Main recommendations

ESGE recommends that individuals with hereditary gastrointestinal polyposis syndromes should be surveilled in dedicated units that provide monitoring of compliance and endoscopic performance measures.
Strong recommendation, moderate quality of evidence, level of agreement 90 %.

ESGE recommends performing esophagogastroduodenoscopy, small-bowel examination, and/or colonoscopy earlier than the planned surveillance procedure if a patient is symptomatic.
Strong recommendation, low quality of evidence, level of agreement 100 %.

Keywords: polyposis; screening; surveillance; colonoscopy; esophagogastroscopy; adenomatous polyposis coli; familial adenomatous polyposis; familial cancer; colorectal cancer; juvenile polyposis syndrome; Peutz-Jeghers syndrome

Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) guideline

Monique van leerdam, Victorine Roos, Evelien Dekker, Rodrigo Jover, Michal Filip Kaminski, Andrew Latchford, Helmut Neumann, Jean Christophe Saurin, Pieter J. Tanis, Anja Wagner, Francesc Balaguer, Luigi Ricciardiello

Publisher

European Society of Gastrointestinal Endoscopy

Guideline

Clinical Practice Guideline

Topics

Digestive Oncology Endoscopy

Citation

Endoscopy 2019; 51(09): 877-895

Published

2019

UEG Poster

Standard Poster

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Introduction

The implementation of colorectal cancer screening programmes has been associated with an increase in the incidence of malignant polyps removed endoscopically. In those without endoscopic cure criteria, surgery can be performed to improve oncological outcomes.

Aims & Methods

Evaluate factors associated with the presence of residual malignant disease in the surgical specimen after endoscopic removal of a malignant polyp without endoscopic cure.
Retrospective, cohort study including patients with a malignant polyp endoscopically removed without endoscopic cure, who underwent surgery. The absence of endoscopic cure was defined as positive vertical resection margins (< 1 mm), poorly differentiated grade, depth of submucosal invasion > 1 mm, presence of lymphatic or vascular invasion, or presence of tumour budding. Patients with a synchronous neoplastic lesion and those with a malignant polyp without complete endoscopic removal were excluded.

Results

Included 74 consecutive patients submitted to surgery after the endoscopic removal of a malignant polyp without endoscopic cure. Most patients were male (62.2%), with a mean age of 64 ± 10 years. Regarding the endoscopic mucosal resection (EMR), 45 polyps were removed in one fragment (60.8%) and the other 29 were submitted to piecemeal EMR (39.2%). In 15 cases, snare tip spray coagulation (STSC) was performed at the margins of mucosal defects after EMR, 6 in normal-appearing margins (8.1%) and 9 in margins suspected of residual adenomatous tissue (12.2%). Considering the post-operative outcomes, 7 patients required surgical re-intervention (9.5%), 1 was admitted in the intensive care unit (1.4%), 1 patient died (1.4%), and 2 patients required re-hospitalization in the following 6 months (2.7%).
The presence of residual malignant disease in the surgical specimen occurred in 9 patients (12.2%), 7 had intramural disease (9.5%) and 2 had nodal metastasis (2.7%). Patients with polyps with a flat component were 5 times more likely to have residual disease in the surgical specimen (p=0.043). The polyp size and its location in the right colon were not associated with the presence of residual disease in the surgical specimen (p=0.140 and p=0.654, respectively). Patients with polyps submitted to piecemeal EMR were 7 times more likely to have residual disease in the surgical specimen (p=0.024), with 2 patients with residual disease after EMR in one fragment (4.4%) and 7 patients with residual disease from the piecemeal EMR group (24.1%). Those in which STSC was performed were also more likely to have residual disease in the surgical specimen (p<0.001). No statistically significant differences were found between the presence of positive margins, lymphatic or vascular invasion or well or moderately differentiated histologic grade, and the presence of residual disease in the surgical specimen (p=1.000, p=0.675 and p=0.686, respectively). Tumour budding was described in 3 patients, none of which had residual disease in the surgical specimen.

Conclusion

A minority of patients had residual malignant disease in the surgical specimen, with a higher risk for those with polyps with a flat component or that were submitted to piecemeal EMR. In fact, with piecemeal EMR almost one quarter of patients had residual disease e less than 5% of those with EMR in one fragment had residual disease in the surgical specimen, highlighting the need for a careful evaluation of the polyp before endoscopic removal and the importance of removal in one fragment, in case of suspected submucosal invasion.

SURGERY AFTER ENDOSCOPIC REMOVAL OF A MALIGNANT POLYP: IS RESIDUAL DISEASE A REAL ISSUE?

Ana Isabel Ferreira 1, Joao Carlos Goncalves 1, Mariana Souto 1, Sofia Xavier 1, Pedro Boal Carvalho 1, Joana Lúcia Teixeira Magalhães Magalhães 1, José Berkeley Cotter 1

1 Hospital Senhora da Oliveira – Guimarães, Guimarães, Portugal|||School of Medicine, University of Minho, Braga, Portugal|||ICVS/3B’s, PT Government Associate Laboratory, Guimarães/Braga, Portugal

Conference

UEG Week Vienna 2024

Topics

Colorectal

Submission format

Abstract

Session

LOWER GI (Posters)

Citation

United European Gastroenterology Journal 2024; 12 (Supplement 8)

Published

2024

UEG Poster

Standard Poster

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Introduction

Esophageal dysphagia is a common complaint in daily clinical practice. After excluding structural and motility disorders, it may be related to functional disorders, which are challenging to diagnose and manage, leading to high health care utilization and both patient and physician dissatisfaction.

Aims & Methods

This is a prospective multicentric 6-months follow-up study to characterize dysphagic patients with normal esophageal motility, in terms of epidemiology and clinical aspects, focusing on patient-reported outcome measures, and evaluate their evolution at 6-months.

Results

From 2021-2024, 91 patients were recruited, 78.0% female, with a median age of 65 years [22-88]. Of these, 27.5% (n = 25) suffered from rheumatologic or endocrinologic disorders, and 56.0% were previously exposed to medical therapies.
Dysphagic symptoms had a median duration of 3 years [1-31], with a median Eckardt of 3 [0-9], PROMIS GI Disrupted Swallowing (PDS) of 60.4 [40.3-84.1], EuroQol-5D TTO of 0.592 [-0.055-1] and VAS of 70 [0-100].
Compared to non-dysphagic participants (n=123), these patients had significantly worse Eckardt, EuroQol-5D and PDS scores (p-values <0.001).
Compared to esophageal motility disorders (Chicago V4.0), the Eckardt and PDS scores in this group were significantly lower when compared to EGJ outflow disorders (p-value <0.001 and 0.003), without differences regarding EuroQol-5D.
Regarding gastroesophageal reflux, 24 (26.4%) patients had a positive GERD-Q questionnaire and 3 had an objective GERD diagnosis. Even though, compared to motility disorders, this score was significantly lower in this group when compared to EGJ outflow disorders (p-value 0.001).
Medical treatments (PPI, amitriptyline) were optimized in 6 patients (6.6%), without any differences in Eckardt or EuroQol-5D scores at 6-months. However, at 6-months, the PDS improved in untreated patients (p-value <0.001).

Conclusion

Non-obstructive dysphagia with normal esophageal motility has a negative impact on quality of life. However, symptoms tend to have a favorable course independently of treatment, therefore mandating a holistic management.

REACHING THE END OF THE LINE: CHARACTERIZATION OF NON-OBSTRUCTIVE DYSPHAGIA WITH NORMAL ESOPHAGEAL MOTILITY

Raquel R. Mendes 1, Jose Azevedo Rodrigues 2, André Mascarenhas 1, Helena Coelho Lima 3, Tiago Guedes 4, Silvia Maria Barrias 4, Mara Costa 5, Paulo Souto 5, João Carlos Silva 6, Joao Paulo Laranjeira Correia 6, Bárbara Morão 7, Joana Revés 7, Carina Leal 8, Rui Tato Marinho 9, Miguel Mascarenhas-Saraiva 3

1 Unidade Local de Saúde de Lisboa Ocidental, Lisbon, Portugal

2 Unidade Local de Saúde de Lisboa Ocidental, Lisbon, Portugal|||Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal

3 ManopH, Porto, Portugal

4 Centro Hospitalar Universitário de Santo António, Porto, Portugal

5 Unidade Local de Saúde de Coimbra, Coimbra, Portugal

6 Unidade Local de Saúde Gaia e Espinho, Vila Nova de Gaia, Portugal

7 Hospital Beatriz Ângelo, Lisbon, Portugal

8 Unidade Local de Saúde de Leiria, Leiria, Portugal

9 Unidade Local de Saúde de Santa Maria, Lisbon, Portugal|||Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal

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