Diverticulitis Familiality: A Statewide Case-Control Study.
Journal
Journal of the American College of Surgeons
ISSN: 1879-1190
Titre abrégé: J Am Coll Surg
Pays: United States
ID NLM: 9431305
Informations de publication
Date de publication:
01 11 2023
01 11 2023
Historique:
medline:
23
10
2023
pubmed:
5
7
2023
entrez:
5
7
2023
Statut:
ppublish
Résumé
The etiology of diverticulitis is multifactorial and poorly understood. We estimated the familiality of diverticulitis using the Utah Population Database, a statewide database linking medical records with genealogy data. We identified patients with diverticulitis diagnosed between 1998 and 2018 and age- and sex-matched controls in the Utah Population Database. Risk of diverticulitis in family members of patients and controls was calculated using multivariable Poisson models. We performed exploratory analyses to determine the association of familial diverticulitis with severity of disease and age of onset. The study population included 9,563 diverticulitis patients (with 229,647 relatives) and 10,588 controls (with 265,693 relatives). Relatives of patients were more likely to develop diverticulitis (incidence rate ratio [IRR] 1.5, 95% CI 1.4 to 1.6) compared with relatives of controls. There was an elevated risk of diverticulitis among first-degree (IRR 2.6, 95% CI 2.3 to 3.0), second-degree (IRR 1.5, 95% CI 1.3 to 1.6), and third-degree relatives of patients (IRR 1.3, 95% CI 1.2 to 1.4). Complicated diverticulitis was more common among relatives of patients compared with relatives of controls (IRR 1.6, 95% CI 1.4 to 1.8). Age at diverticulitis diagnosis was similar between groups (relatives of patients 0.2 years older than relatives of controls, 95% CI -0.5 to 0.9). Our results indicate that the first-, second-, and third-degree relatives of diverticulitis patients are at elevated risk of developing diverticulitis. This information may aid surgeons in counseling patients and family members about diverticulitis risk and can inform the development of future risk-stratification tools. Further work is needed to clarify the causal role and relative contribution of various genetic, lifestyle, and environmental factors in the development of diverticulitis.
Sections du résumé
BACKGROUND
The etiology of diverticulitis is multifactorial and poorly understood. We estimated the familiality of diverticulitis using the Utah Population Database, a statewide database linking medical records with genealogy data.
STUDY DESIGN
We identified patients with diverticulitis diagnosed between 1998 and 2018 and age- and sex-matched controls in the Utah Population Database. Risk of diverticulitis in family members of patients and controls was calculated using multivariable Poisson models. We performed exploratory analyses to determine the association of familial diverticulitis with severity of disease and age of onset.
RESULTS
The study population included 9,563 diverticulitis patients (with 229,647 relatives) and 10,588 controls (with 265,693 relatives). Relatives of patients were more likely to develop diverticulitis (incidence rate ratio [IRR] 1.5, 95% CI 1.4 to 1.6) compared with relatives of controls. There was an elevated risk of diverticulitis among first-degree (IRR 2.6, 95% CI 2.3 to 3.0), second-degree (IRR 1.5, 95% CI 1.3 to 1.6), and third-degree relatives of patients (IRR 1.3, 95% CI 1.2 to 1.4). Complicated diverticulitis was more common among relatives of patients compared with relatives of controls (IRR 1.6, 95% CI 1.4 to 1.8). Age at diverticulitis diagnosis was similar between groups (relatives of patients 0.2 years older than relatives of controls, 95% CI -0.5 to 0.9).
CONCLUSIONS
Our results indicate that the first-, second-, and third-degree relatives of diverticulitis patients are at elevated risk of developing diverticulitis. This information may aid surgeons in counseling patients and family members about diverticulitis risk and can inform the development of future risk-stratification tools. Further work is needed to clarify the causal role and relative contribution of various genetic, lifestyle, and environmental factors in the development of diverticulitis.
Identifiants
pubmed: 37403933
doi: 10.1097/XCS.0000000000000799
pii: 00019464-202311000-00002
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, U.S. Gov't, P.H.S.
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
689-696Subventions
Organisme : NCI NIH HHS
ID : HHSN261201800016I
Pays : United States
Organisme : NCRR NIH HHS
ID : R01 RR021746
Pays : United States
Informations de copyright
Copyright © 2023 by the American College of Surgeons. Published by Wolters Kluwer Health, Inc. All rights reserved.
Références
Peery AF, Crockett SD, Murphy CC, et al. Burden and cost of gastrointestinal, liver, and pancreatic diseases in the United States: update 2018. Gastroenterology. 2019;156:254–272.e11.
Yen ML, Davis MKL, Hodgkins P, et al. Direct costs of diverticulitis in a US managed care population. Am J Manag Care. 2012;4:e118–e129.
Hall JF, Roberts PL, Ricciardi R, et al. Long-term follow-up after an initial episode of diverticulitis: what are the predictors of recurrence? Dis Colon Rectum. 2011;54:283–288.
Humes DJ, Simpson J, Neal KR, et al. Psychological and colonic factors in painful diverticulosis. Br J Surg. 2008;95:195–198.
Morris AM, Regenbogen SE, Hardiman KM, Hendren S. Sigmoid diverticulitis: a systematic review. JAMA. 2014;311:287–297.
Francis NK, Sylla P, Abou-Khalil M, et al. EAES and SAGES 2018 consensus conference on acute diverticulitis management: evidence-based recommendations for clinical practice. Surg Endosc. 2019;33:2726–2741.
Connelly TM, Berg AS, Hegarty JP, et al. The TNFSF15 gene single nucleotide polymorphism rs7848647 is associated with surgical diverticulitis. Ann Surg. 2014;259:1132–1137.
Connelly TM, Choi CS, Berg AS, et al. Diverticulitis and Crohn’s disease have distinct but overlapping tumor necrosis superfamily 15 haplotypes. J Surg Res. 2017;214:262–269.
Coble JL, Sheldon KE, Yue F, et al. Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing. Hum Mol Genet. 2017;26:3212–3220.
Sigurdsson S, Alexandersson KF, Sulem P, et al. Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis. Nat Commun. 2017;8:15789.
Kline BP, Schieffer KM, Choi CS, et al. Multifocal versus conventional unifocal diverticulitis: a comparison of clinical and transcriptomic characteristics. Dig Dis Sci. 2019;64:3143–3151.
Schafmayer C, Harrison JW, Buch S, et al. Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanisms. Gut. 2019;68:854–865.
Maguire LH, Handelman SK, Du X, et al. Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease. Nat Genet. 2018;50:1359–1365.
Broad JB, Wu Z, Clark TG, et al. Diverticulosis and nine connective tissue disorders: epidemiological support for an association. Conn Tiss Res. 2019;60:389–398.
Santin BJ, Prasad V, Caniano DA. Colonic diverticulitis in adolescents: an index case and associated syndromes. Pediatr Surg Int. 2009;25:901–905.
Granlund J, Svensson T, Olen O, et al. The genetic influence on diverticular disease--a twin study. Aliment Pharm Ther. 2012;35:1103–1107.
Strate LL, Erichsen R, Baron JA, et al. Heritability and familial aggregation of diverticular disease: a population-based study of twins and siblings. Gastroenterology. 2013;144:736–742.e1; quiz e14.
Yasui Y, Newcomb PA, Trentham-Dietz A, Egan KM. Familial relative risk estimates for use in epidemiologic analyses. Am J Epidemiol. 2006;164:697–705.
Goldmuntz E, Mitchell LE. Familial aggregation studies: a valuable tool in the genetic toolbox. Circ Genom Precis Med. 2022;15:e003868.
Weichenberger CX, Rainer J, Pattaro C, et al. Comparative assessment of different familial aggregation methods in the context of large and unstructured pedigrees. Bioinformatics. 2019;35:69–76.
Hawkins AT, Rothman R, Geiger TM, et al. Surgeons’ perspective of decision making in recurrent diverticulitis: a qualitative analysis. Ann Surg Open. 2022;3:e157.
Hall J, Hardiman K, Lee S, et al. The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the treatment of left-sided colonic diverticulitis. Dis Colon Rectum. 2020;63:728–747.
Peery AF, Shaukat A, Strate LL. AGA clinical practice update on medical management of colonic diverticulitis: expert review. Gastroenterology. 2021;160:906–911.e1.
Slattery ML, Kerber RA. A comprehensive evaluation of family history and breast cancer risk. The Utah Population Database. JAMA. 1993;270:1563–1568.
Samadder NJ, Smith KR, Hanson H, et al. Familial risk in patients with carcinoma of unknown primary. JAMA Oncol. 2016;2:340–346.
Samadder NJ, Smith KR, Wong J, et al. Familial risk of biliary tract cancers: a population-based study in Utah. Dig Dis Sci. 2016;61:3627–3632.
Allen-Brady K, Camp NJ, Ward JH, Cannon-Albright LA. Lobular breast cancer: excess familiality observed in the Utah Population Database. Int J Cancer. 2005;117:655–661.
Norton PA, Allen-Brady K, Cannon-Albright LA. The familiality of pelvic organ prolapse in the Utah Population Database. Int Urogynecol J. 2013;24:413–418.
Scholand MB, Coon H, Wolff R, Cannon-Albright L. Use of a genealogical database demonstrates heritability of pulmonary fibrosis. Lung. 2013;191:475–481.
Wilson BD, Wasmund SL, Sachse FB, et al. Evidence for a heritable contribution to atrial fibrillation associated with fibrosis. JACC Clin Electrophysiol. 2019;5:493–500.
Cohan JN, Horns JJ, Hanson HA, et al. The association between family history and diverticulitis recurrence: a population-based study. Dis Colon Rectum. 2021;66:269–277.
Kline BP, Schieffer KM, Choi CS, et al. Multifocal versus conventional unifocal diverticulitis: a comparison of clinical and transcriptomic characteristics. Dig Dis Sci. 2019;64:3143–3151.
Schafmayer C, Harrison JW, Buch S, et al. Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanisms. Gut. 2019;68:854–865.
De Roo AC, Chen Y, Du X, et al. Polygenic risk prediction in diverticulitis. Ann Surg. Published online July 25, 2022.
Almalki T, Garfinkle R, Kmiotek E, et al. Family history is associated with recurrent diverticulitis after an episode of diverticulitis managed nonoperatively. Dis Colon Rectum. 2020;63:944–954.
Samadder NJ, Curtin K, Tuohy TM, et al. Increased risk of colorectal neoplasia among family members of patients with colorectal cancer: a population-based study in Utah. Gastroenterology. 2014;147:814–821.e5; quiz e15.
Roos VH, Mangas-Sanjuan C, Rodriguez-Girondo M, et al. Effects of family history on relative and absolute risks for colorectal cancer: a systematic review and meta-analysis. Clin Gastro Hep. 2019;17:2657–2667.e2659.
Paling J. Strategies to help patients understand risks. BMJ. 2003;327:745–748.
Gigerenzer G, Edwards A. Simple tools for understanding risks: from innumeracy to insight. BMJ. 2003;327:741–744.
Aune D, Sen A, Leitzmann MF, et al. Tobacco smoking and the risk of diverticular disease - a systematic review and meta-analysis of prospective studies. Colorectal Dis. 2017;19:621–633.
Cao Y, Strate LL, Keeley BR, et al. Meat intake and risk of diverticulitis among men. Gut. 2018;67:466–472.
Ma W, Nguyen LH, Song M, et al. Intake of dietary fiber, fruits, and vegetables and risk of diverticulitis. Am J Gastro. 2019;114:1531–1538.
Aune D, Sen A, Leitzmann MF, et al. Body mass index and physical activity and the risk of diverticular disease: a systematic review and meta-analysis of prospective studies. Eur J Nutr. 2017;56:2423–2438.
Song BK, Saavedra JM, Lefferts EC, et al. Associations between cardiorespiratory fitness and diverticulitis in older adults. PLoS One. 2022;17:e0275433.
Jorde LB. Consanguinity and prereproductive mortality in the Utah Mormon population. Hum Hered. 2001;52:61–65.