Perforated sigmoid diverticulitis in identical twins

Börsch, G; Pusch, H.; Borger, G

doi:10.1007/bf01320329

Cited by 3 publications

(1 citation statement)

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“…While assessing all other known risk factors for developing diverticulosis and diverticulitis the present study gives a good impression of the true influence of connective tissue disease related A1AT deficiency or carrier in the aetiology of diverticulosis. The current literature often mentions that connective tissue diseases play a role in diverticulitis; however, most of the information is based on old data, case reports and twin studies [27][28][29]. The results of the subgroup of patients with acute diverticulitis were notable.…”

Section: Discussionmentioning

confidence: 99%

Alpha‐1‐antitrypsin deficiency (carrier) as possible risk factor for development of colonic diverticula. A multicentre prospective case–control study: the ALADDIN study

Rottier¹,

Dreuning

Pelt³

et al. 2020

Colorectal Disease

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Aim Connective tissue changes due to ageing or diseases leading to changes in the colonic wall are one theory for the development of diverticula. Alpha-1antitrypsin (A1AT), a protease inhibitor that protects connective tissue, possibly plays a role in the aetiology of diverticulosis. The aim of this study was to explore associations between the development of diverticula and A1AT deficiency. Methods This was a multicentre prospective case-control study. A total of 221 patients aged ≥ 60 years with acute abdominal pain undergoing abdominal CT were included and analysed. Patients with diverticula were defined as the research group, patients without diverticula as controls. Genotype analysis for A1AT deficiency was performed. Results Twenty-six of 221 (11.8%) patients were diagnosed with (being a carrier of) A1AT deficiency. A nonsignificant difference in prevalence between patients with and without diverticula was found, 20 (13.9%) of 144 vs 6 (7.8%) of 77, respectively, with a crude OR of 1.9 (95% CI 0.7-5.0; P = 0.186) and after adjustment for confounders an adjusted OR of 1.5 (95% CI 0.5-4.0; P = 0.466). A non-significant difference in 30-day mortality rate from acute diverticulitis between A1AT deficient patients (or carriers) and those without was observed: two (22.2%) of nine patients with A1AT deficiency vs 1 (1.8%) of 55 without. Conclusion We found no convincing evidence that A1AT deficiency plays a role in the aetiology of diverticulitis, although deficient patients and carriers had a higher mortality when experiencing diverticulitis. Diverticulitis is a multifactorial disease and larger numbers may be needed to explore the role of A1AT deficiency among other contributing factors.

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Section: Discussionmentioning

confidence: 99%

Alpha‐1‐antitrypsin deficiency (carrier) as possible risk factor for development of colonic diverticula. A multicentre prospective case–control study: the ALADDIN study

Rottier¹,

Dreuning

Pelt³

et al. 2020

Colorectal Disease

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Evaluation of molecular and genetic predisposing parameters at diverticular disease of the colon

Mastoraki

Schizas

Tousia

et al. 2021

Int J Colorectal Dis

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Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing

Coble¹,

Sheldon²,

Yue³

et al. 2017

Human Molecular Genetics

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Diverticulitis is a chronic disease of the colon in which diverticuli, or outpouching through the colonic wall, become inflamed. Although recent observations suggest that genetic factors may play a significant role in diverticulitis, few genes have yet been implicated in disease pathogenesis and familial cases are uncommon. Here, we report results of whole exome sequencing performed on members from a single multi-generational family with early onset diverticulitis in order to identify a genetic component of the disease. We identified a rare single nucleotide variant in the laminin β 4 gene (LAMB4) that segregated with disease in a dominant pattern and causes a damaging missense substitution (D435N). Targeted sequencing of LAMB4 in 148 non-familial and unrelated sporadic diverticulitis patients identified two additional rare variants in the gene. Immunohistochemistry indicated that LAMB4 localizes to the myenteric plexus of colonic tissue and patients harboring LAMB4 variants exhibited reduced LAMB4 protein levels relative to controls. Laminins are constituents of the extracellular matrix and play a major role in regulating the development and function of the enteric nervous system. Reduced LAMB4 levels may therefore alter innervation and morphology of the enteric nervous system, which may contribute to colonic dysmotility associated with diverticulitis.

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Perforated sigmoid diverticulitis in identical twins

Cited by 3 publications

References 1 publication

Alpha‐1‐antitrypsin deficiency (carrier) as possible risk factor for development of colonic diverticula. A multicentre prospective case–control study: the ALADDIN study

Alpha‐1‐antitrypsin deficiency (carrier) as possible risk factor for development of colonic diverticula. A multicentre prospective case–control study: the ALADDIN study

Evaluation of molecular and genetic predisposing parameters at diverticular disease of the colon

Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing

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