Association between diverticular disease and Ehlers-Danlos syndrome: a 13-year nationwide population-based cohort study

Leganger, Julie; Søborg, Mogens; Mortensen, L.; Gregersen, Rasmus; Rosenberg, Jacob; Burcharth, Jakob

doi:10.1007/s00384-016-2650-2

Cited by 12 publications

(5 citation statements)

References 18 publications

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“…Few genetic studies have identified the actual genes that are susceptible culprits. Genetic connective tissue disorders like Ehlers-Danlos and Marfans syndrome have been linked to the development of diverticulosis in young age [34,35]. Some studies indicated that genes involved in immunity, extracellular matrix, cell adhesion, membrane transport and intestinal motility may be related to diverticular disease [36][37][38].…”

Section: What Are the Risk Factors For Diverticulosis Diverticulitismentioning

confidence: 99%

European Society of Coloproctology: guidelines for the management of diverticular disease of the colon

Schultz

Azhar

Binda³

et al. 2020

Colorectal Disease

168

177

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Aim The goal of this European Society of Coloproctology (ESCP) guideline project is to give an overview of the existing evidence on the management of diverticular disease, primarily as a guidance to surgeons. Methods The guideline was developed during several working phases including three voting rounds and one consensus meeting. The two project leads (JKS and EA) appointed by the ESCP guideline committee together with one member of the guideline committee (WB) agreed on the methodology, decided on six themes for working groups (WGs) and drafted a list of research questions. Senior WG members, mostly colorectal surgeons within the ESCP, were invited based on publication records and geographical aspects. Other specialties were included in the WGs where relevant. In addition, one trainee or PhD fellow was invited in each WG. All six WGs revised the research questions if necessary, did a literature search, created evidence tables where feasible, and drafted supporting text to each research question and statement. The text and statement proposals from each WG were arranged as one document by the first and last authors before online voting by all authors in two rounds. For the second voting ESCP national representatives were also invited. More than 90% agreement was considered a consensus. The final phrasing of the statements with < 90% agreement was discussed in a consensus meeting at the ESCP annual meeting in Vienna in September 2019. Thereafter, the first and the last author drafted the final text of the guideline and circulated it for final approval and for a third and final online voting of rephrased statements. Results This guideline contains 38 evidence based consensus statements on the management of diverticular disease. Conclusion This international, multidisciplinary guideline provides an up to date summary of the current knowledge of the management of diverticular disease as a guidance for clinicians and patients.

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Section: What Are the Risk Factors For Diverticulosis Diverticulitismentioning

confidence: 99%

European Society of Coloproctology: guidelines for the management of diverticular disease of the colon

Schultz

Azhar

Binda³

et al. 2020

Colorectal Disease

168

177

View full text Add to dashboard Cite

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“…TNFSF15 has been associated with diverticular disease 35 , but this was not found in our study. Despite clinical association 17 , Ehlers-Danlos genes were not identified.…”

mentioning

confidence: 97%

“…Incidence is higher in males <50, but females predominate in older ages 16 . Diverticular disease is associated with connective tissue disorders: Ehlers-Danlos Syndrome (collagen mutations) 17 , Williams Syndrome (elastin mutations) 18 , and polycystic kidney disease 19 . In the general population, twin studies estimate heritability at 40–53% 20,21 indicating a strong genetic component.…”

mentioning

confidence: 99%

Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease

Maguire

Handelman

et al. 2018

Nat Genet

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Diverticular disease is common and has a high morbidity. Treatments are limited owing to the poor understanding of its pathophysiology. Here, to elucidate its etiology, we performed a genome-wide association study of diverticular disease (27,444 cases; 382,284 controls) from the UK Biobank and tested for replication in the Michigan Genomics Initiative (2,572 cases; 28,649 controls). We identified 42 loci associated with diverticular disease; 39 of these loci are novel. Using data-driven expression-prioritized integration for complex traits (DEPICT), we show that genes in these associated regions are significantly enriched for expression in mesenchymal stem cells and multiple connective tissue cell types and are co-expressed with genes that have a role in vascular and mesenchymal biology. Genes in these associated loci have roles in immunity, extracellular matrix biology, cell adhesion, membrane transport and intestinal motility. Phenome-wide association analysis of the 42 variants shows a common etiology of diverticular disease with obesity and hernia. These analyses shed light on the genomic landscape of diverticular disease.

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“…Certain syndromes have been reported to have an increased incidence of diverticular disease, such as Ehlers-Danlos syndrome, Williams syndrome, and hyper IgE syndrome; however, none of these were applicable in the present case. [10][11][12][13][14] In this case, because the physical examination suggested acute appendicitis and the ultrasound results pointed to appendiceal inflammation, it was not scrutinized further with CT imaging. However, a CT scan can help to distinguish between diverticulitis and appendicitis, especially in an obese patient, when it is more difficult to get an accurate result with ultrasound.…”

Section: Discussionmentioning

confidence: 99%

Solitary Cecal Diverticulitis Mimicking Acute Appendicitis in A Child: Intraoperative Diagnosis

Çil

Gümüş

2018

Sisli Etfal

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Right colonic and cecal diverticulitis can mimic acute appendicitis. A 14-year-old, 105-kg boy presented at the emergency department with symptoms mimicking acute appendicitis. Surgery revealed a case of perforated solitary cecal diverticulitis. Diverticulosis is a disease known to be common in adulthood, but the incidence is increasing in childhood. Therefore, emergency room residents and pediatric surgeons need to keep this diagnosis in mind in the differential diagnosis of acute appendicitis. Early clarification of the etiology will enable the planning of the best treatment strategy.

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Association between diverticular disease and Ehlers-Danlos syndrome: a 13-year nationwide population-based cohort study

Abstract: Patients with EDS had an increased occurrence of overall diverticular events and admissions with diverticulitis compared with the general population.

Cited by 12 publications

References 18 publications

European Society of Coloproctology: guidelines for the management of diverticular disease of the colon

European Society of Coloproctology: guidelines for the management of diverticular disease of the colon

Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease

Solitary Cecal Diverticulitis Mimicking Acute Appendicitis in A Child: Intraoperative Diagnosis

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