Literature DB >> 25036657

Familial idiopathic small-bowel and colonic varices in three siblings.

Paul Boland1, Jennifer Leonard1, Michael Saunders1, Ford Bursey1.   

Abstract

Idiopathic small-bowel and colonic varices are a rare source of bleeding from the gastrointestinal tract. To date there are only eight published case series of familial idiopathic small-bowel and colonic varices. We present a case series detailing three affected siblings who presented with significant lower gastrointestinal bleeding and had multiple varices on endoscopy and imaging. Though not confirmed, consanguinity in the parents suggests an autosomal recessive mode of inheritance. We summarize the literature to date and describe our institution's experience of endoscopy, diagnostic imaging, and treatment in these patients. © Georg Thieme Verlag KG Stuttgart · New York.

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Year:  2014        PMID: 25036657     DOI: 10.1055/s-0034-1377530

Source DB:  PubMed          Journal:  Endoscopy        ISSN: 0013-726X            Impact factor:   10.093


  2 in total

Review 1.  Idiopathic Ileocolonic Varices Coexisting with a Colon Polyp Treated Successfully by Endoscopy: A Case Report and Literature Review.

Authors:  Takao Miwa; Takashi Ibuka; Noritaka Ozawa; Tomohiko Sugiyama; Masaya Kubota; Kenji Imai; Hiroyasu Sakai; Koji Takai; Hiroshi Araki; Masahito Shimizu
Journal:  Intern Med       Date:  2019-07-31       Impact factor: 1.271

2.  Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature.

Authors:  Chantal Kerkhofs; Servi J C Stevens; Saul N Faust; William Rae; Anthony P Williams; Peter Wurm; Rune Østern; Paul Fockens; Christiane Würfel; Martin Laass; Freddy Kokke; Alexander P A Stegmann; Han G Brunner
Journal:  Hum Mutat       Date:  2019-09-23       Impact factor: 4.878

  2 in total

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