Hereditary polyposis syndromes remain a challenging disease entity:Old dilemmas and new insights

In this editorial we present an overview and insights of the management of hereditary polyposis syndromes.The primary focus was on familial adenomatous polyposis,juvenile polyposis syndrome and Peutz-Jegher syndrome.Genetic testing has become increasingly available and is easier than ever to integrate into clinical practice.Furthermore,several genes have been added to the expanding list of genes associated with hereditary polyposis syndromes,allowing for precise diagnostics and tailored follow-up.Endoscopic evaluation of patients with hereditary polyposis syndromes is paramount in the surveillance strategies.Current endoscopic procedures include both diagnostic procedures and surveillance as well as therapeutic interventions.Recommendations for endoscopic procedures in the upper and lower gastrointestinal canal were described.Surgery is still a key component in the management of patients with hereditary polyposis syndromes.The increased cancer risk in these patients often render prophylactic procedures or intended curative procedures in the case of cancer development.Surgical interventions in the upper and lower gastrointestinal canal were described with relevant considerations.Development of chemopreventive medications is ongoing.Few drugs have been investigated,including nonsteroidal anti-inflammatory drugs.It has been demonstrated that cyclooxygenase-2 inhibitors may lower the number of polyps.Other medications are currently under investigation,but none have,to date,consistently been able to prevent development of disease.

Systematic review of the prevalence and development of osteoporosis or low bone mineral density and its risk factors in patients with inflammatory bowel disease

BACKGROUND The inflammatory bowel diseases(IBD),Crohn’s disease(CD)and ulcerative colitis(UC)are chronic,immune-mediated disorders of the digestive tract.IBD is considered to be a risk factor for developing osteoporosis;however current literature on this matter is inconsistent.AIM To assess prevalence and development of osteoporosis and low bone mineral density(BMD),and its risk factors,in IBD patients.METHODS Systematic review of population-based studies.Studies were identified by electronic(January 2018)and manual searches(May 2018).Databases searched included EMBASE and PubMed and abstracts from 2014-2018 presented at the United European Gastroenterology Week,the European Crohn’s and Colitis Organisation congress,and Digestive Disease Week were screened.Studies were eligible for inclusion if they investigated either the prevalence of osteoporosis or osteopenia and/or risk factors for osteoporosis or low BMD in IBD patients.Studies on children under the age of 18 were excluded.Only population-based studies were included.All risk factors for osteoporosis and low BMD investigated in any included article were considered.Study quality and the possibility of bias were analysed using the Newcastle-Ottawa scale.RESULTS Twelve studies including 3661 IBD patients and 12789 healthy controls were included.Prevalence of osteoporosis varied between 4%-9%in studies including both CD and UC patients;2%-9% in studies including UC patients, and 7%-15% instudies including CD patients. Among healthy controls, prevalence ofosteoporosis was 3% and 10% in two studies. CD diagnosis, lower body massindex (BMI), and lower body weight were risk factors associated withosteoporosis or low BMD. Findings regarding gender showed inconsistent results.CD patients had an increased risk for osteoporosis or low BMD over time, whileUC patients did not. Increased age was associated with decreased BMD, and therewas a positive association between weight and BMI and BMD over time. Greatheterogeneity was found in the included studies in terms of study methodologies,definitions and the assessment of osteoporosis, and only a small number ofpopulation-based studies was available.CONCLUSIONThis systematic review found a possible increase of prevalence of osteoporosis inCD cohorts when compared to UC and cohorts including both disease types.Lower weight and lower BMI were predictors of osteoporosis or low BMD in IBDpatients. The results varied considerably between studies.

Complementary roles of interventional radiology and therapeutic endoscopy in gastroenterology

Acute upper and lower gastrointestinal bleeding, enteral feeding, cecostomy tubes and luminal strictures are some of the common reasons for gastroenterology service. While surgery was initially considered the main treatment modality, the advent of both therapeutic endoscopy and interventional radiology have resulted in the paradigm shift in the management of these conditions. In this paper, we discuss the patient's work up, indications, and complementary roles of endoscopic and angiographic management in the settings of gastrointestinal bleeding, enteral feeding, cecostomy tube placement and luminal strictures. These conditions often require multidisciplinary approaches involving a team of interventional radiologists, gastroenterologists and surgeons. Further, the authors also aim to describe how the fields of interventional radiology and gastrointestinal endoscopy are overlapping and complementary in the management of these complex conditions.

Safety and efficacy of Profermin~to induce remission in ulcerative colitis

AIM:To test the efficacy and safety of Profermin in inducing remission in patients with active ulcerative colitis(UC).METHODS:The study included 39 patients with mild to moderate UC defined as a Simple Clinical Colitis Activity Index(SCCAI)>4 and<12(median:7.5),who were treated open-label with Profermintwice daily for 24 wk.Daily SCCAI was reported observer blinded via the Internet.RESULTS:In an intention to treat(ITT)analysis,the mean reduction in SCCAI score was 56.5%.Of the 39 patients,24(62%)reached the primary endpoint,which was proportion of patients with≥50%reduction in SCCAI.Our secondary endpoint,the proportion of patients in remission defined as SCCAI≤2.5,was in ITT analysis reached in 18 of the 39 patients(46%).In a repeated-measure regression analysis,the estimated mean reduction in score was 5.0 points(95%CI:4.1-5.9,P<0.001)and the estimated mean time taken to obtain half the reduction in score was 28 d(95%CI:26-30).There were no serious adverse events(AEs)or withdrawals due to AEs.Profermin was generally well tolerated.CONCLUSION:Profermin is safe and may be effective in inducing remission of active UC.

Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature

BACKGROUND Cholesteryl ester storage disease(CESD)is a rare genetic disease.Its symptoms and severity are highly variable.CESD is a systemic disease that can lead to the accumulation of fat and inflammation in the liver,as well as gastrointestinal and cardiovascular disease.The majority of patients require liver transplantation due to decompensated cirrhosis.Enzyme replacement therapy has been approved based on a randomized trial.Our study aims to clinically and genetically evaluate two siblings with CESD who underwent liver transplantation,as well as their first-degree family members.CASE SUMMARY The siblings were compound heterozygous for the missense variant in LIPA exon 8,c.894G>A,(p.Gln298Gln)and a single base pair deletion,c.482del(p.Asn161Ilefs*19).Analyses of single nucleotide polymorphisms showed variants with an increased risk of fatty liver disease and fibrosis for both patients.Clinically,both patients show signs of recurrence of CESD in the liver after transplantation and additional gastrointestinal and cardiovascular signs of CESD.Three family members who were LIPA heterozygous had a lysosomal acid lipase activity below the reference value.One of these carriers,a seven-year-old boy,was found to have severe dyslipidemia and was subsequently treated with statins.CONCLUSION Our study underlines that CESD is a multi-organ disease,the progression of which may occur post-liver transplantation.Our findings underline the need for monitoring of complications and assessment of possible further treatment.

Artificial intelligence assisted assessment of endoscopic disease activity in inflammatory bowel disease

Assessment of endoscopic disease activity can be difficult in patients with inflammatory bowel disease(IBD)[comprises Crohn's disease(CD)and ulcerative colitis(UC)].Endoscopic assessment is currently the foundation of disease evaluation and the grading is pivotal for the initiation of certain treatments.Yet,disharmony is found among experts;even when reassessed by the same expert.Some studies have demonstrated that the evaluation is no better than flipping a coin.In UC,the greatest achieved consensus between physicians when assessing endoscopic disease activity only reached a Kappa value of 0.77(or 77%agreement adjustment for chance/accident).This is unsatisfactory when dealing with patients at risk of surgery or disease progression without proper care.Lately,across all medical specialities,computer assistance has become increasingly interesting.Especially after the emanation of machine learning–colloquially referred to as artificial intelligence(AI).Compared to other data analysis methods,the strengths of AI lie in its capability to derive complex models from a relatively small dataset and its ability to learn and optimise its predictions from new inputs.It is therefore evident that with such a model,one hopes to be able to remove inconsistency among humans and standardise the results across educational levels,nationalities and resources.This has manifested in a handful of studies where AI is mainly applied to capsule endoscopy in CD and colonoscopy in UC.However,due to its recent place in IBD,there is a great inconsistency between the results,as well as the reporting of the same.In this opinion review,we will explore and evaluate the method and results of the published studies utilising AI within IBD(with examples),and discuss the future possibilities AI can offer within IBD.

Cancer risk and mortality in patients with solitary Peutz–Jeghers polyps

Introduction Solitary Peutz–Jeghers polyps are hamartomatous lesions in the gastrointestinal(GI)tract.They are rare and can be diagnosed in both children and adults(Figure 1A).Microscopically,Peutz–Jeghers polyps can have a characteristic morphology,making it possible to distinguish them from other polyps(Figure 1B and C).