Literature DB >> 22781752

Visceroptosis of the bowel in the hypermobility type of Ehlers-Danlos syndrome: presentation of a rare manifestation and review of the literature.

Eyal Reinstein1, Mark Pimentel, Mitchel Pariani, Stephen Nemec, Thomas Sokol, David L Rimoin.   

Abstract

Gastrointestinal complications are common in patients with Ehlers-Danlos syndrome, affecting up to 50% of individuals depending on the subtype. The spectrum of gastrointestinal manifestations is broad and ranges from life threatening spontaneous perforation of the visceral organs to a more benign functional symptoms. Here we describe the clinical and radiographic manifestations of visceroptosis of the bowel, a rare complication of Ehlers-Danlos syndrome that is characterized by prolapse of abdominal organs below their natural position. We further review the literature on gastrointestinal complications in the different forms of Ehlers-Danlos syndrome.
Copyright © 2012 Elsevier Masson SAS. All rights reserved.

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Year:  2012        PMID: 22781752      PMCID: PMC3568682          DOI: 10.1016/j.ejmg.2012.06.012

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN: 1769-7212            Impact factor:   2.708


  19 in total

1.  Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.

Authors:  M Pepin; U Schwarze; A Superti-Furga; P H Byers
Journal:  N Engl J Med       Date:  2000-03-09       Impact factor: 91.245

Review 2.  GI manifestations of Ehlers-Danlos syndrome.

Authors:  J A Solomon; L Abrams; G R Lichtenstein
Journal:  Am J Gastroenterol       Date:  1996-11       Impact factor: 10.864

3.  Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

Authors:  M Klaassens; E Reinstein; Y Hilhorst-Hofstee; J J P Schrander; F Malfait; H Staal; L C ten Have; J Blaauw; H C J Roggeveen; D Krakow; A De Paepe; M A M van Steensel; G Pals; J M Graham; C T R M Schrander-Stumpel
Journal:  Clin Genet       Date:  2011-08-24       Impact factor: 4.438

4.  Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

Authors:  P Beighton; A De Paepe; B Steinmann; P Tsipouras; R J Wenstrup
Journal:  Am J Med Genet       Date:  1998-04-28

5.  Rectal prolapse in the Ehlers-Danlos syndrome.

Authors:  B S Douglas; H M Douglas
Journal:  Aust Paediatr J       Date:  1973-04

6.  Gastrointestinal complications of the Ehlers-Danlos syndrome.

Authors:  P H Beighton; J L Murdoch; T Votteler
Journal:  Gut       Date:  1969-12       Impact factor: 23.059

7.  Fatal splenic rupture in Ehlers-Danlos syndrome.

Authors:  S C Harris; D N Slater; C A Austin
Journal:  Postgrad Med J       Date:  1985-03       Impact factor: 2.401

8.  Spontaneous rupture of liver in a patient with Ehlers Danlos disease type IV.

Authors:  C M Gelbmann; M Köllinger; J Gmeinwieser; H G Leser; A Holstege; J Schölmerich
Journal:  Dig Dis Sci       Date:  1997-08       Impact factor: 3.199

9.  Ehlers-Danlos features with progeroid facies and mild mental retardation. Further delineation of the syndrome.

Authors:  A Hernández; M G Aguirre-Negrete; S González-Flores; M C Reynoso-Luna; R Fragoso; Z Nazará; G Tapia-Arizmendi; J M Cantú
Journal:  Clin Genet       Date:  1986-12       Impact factor: 4.438

Review 10.  Megacystis and megacolon in an infant with Ehlers-Danlos syndrome.

Authors:  T Sato; H Ito; S Miyazaki; S Komine; Y Hayashida
Journal:  Acta Paediatr Jpn       Date:  1993-08
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  7 in total

Review 1.  How to Test and Treat Small Intestinal Bacterial Overgrowth: an Evidence-Based Approach.

Authors:  Ali Rezaie; Mark Pimentel; Satish S Rao
Journal:  Curr Gastroenterol Rep       Date:  2016-02

2.  Combined Nutcracker and Ehlers-Danlos Syndromes: A Case Report.

Authors:  Alexandre Campos Moraes Amato; Arthur Ethan Cardoso da Silva; Isabela Moraes Bernal; Julia Cuginotti de Oliveira; Maísa Di Paschoal Almeida Ribeiro; Priscila Souza Schinzari; Ricardo Virgínio Dos Santos
Journal:  EJVES Vasc Forum       Date:  2020-02-27

3.  Visceroptosis and the Ehlers-Danlos Syndrome.

Authors:  Stephen Kucera; Stephen N Sullivan
Journal:  Cureus       Date:  2017-11-08

Review 4.  Clinical Relevance of Joint Hypermobility and Its Impact on Musculoskeletal Pain and Bone Mass.

Authors:  Vito Guarnieri; Marco Castori
Journal:  Curr Osteoporos Rep       Date:  2018-08       Impact factor: 5.096

5.  Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature.

Authors:  Yoshihisa Fukuda; Yusuke Higuchi; Kanae Shinozaki; Yuji Tanigawa; Taro Abe; Nobuyoshi Hanaoka; Sunao Matsubayashi; Tomomi Yamaguchi; Tomoki Kosho; Koji Nakamichi
Journal:  Intern Med       Date:  2017-09-15       Impact factor: 1.271

Review 6.  Hypermobile Ehlers-Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know.

Authors:  Phoebe A Thwaites; Peter R Gibson; Rebecca E Burgell
Journal:  J Gastroenterol Hepatol       Date:  2022-07-20       Impact factor: 4.369

7.  Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations.

Authors:  Marco Castori
Journal:  ISRN Dermatol       Date:  2012-11-22
  7 in total

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