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  • Gastrointestinal Complications of Ehlers-Danlos Syndrome

    EDNF Physicians Conference September 15, 2014 Heidi A Collins, MD

    Presenter Presentation Notes My intention is to provide a presentation that can be appreciated even if viewed independently by persons not attending the EDNF 2014 Physicians Conference.

    Due to time constraints, some of the many slides in this presentation will not be discussed in great detail during the scheduled sessions, so I encourage members of the audience to refer to the presenter notes.

    This presentation is authored with thoroughly cited presenter notes, including links to full-text articles and resources when available.

  • Gastrointestinal Complications of Ehlers-Danlos Syndrome

    “All disease begins in the gut.”

    “Bad digestion is the root of evil.”

    “Death sits

    in the bowels.”

    - Hippocrates (c. 400 BC)

    Presenter Presentation Notes Image: http://www.springerimages.com/img/Images/BMC/VOL=2009.4/ISU=1/ART=129/MediaObjects/LARGE_13013_2009_Article_129_Fig12_HTML.jpg

    In addition to his statements regarding the gut, Hippocrates has been credited with perhaps being the first to recognize Ehlers-Danlos Syndrome when he wrote about laxity in Scythian warriors in his text, “On Airs, Waters, Places”.

  • Gastrointestinal Complications of Ehlers-Danlos Syndrome

    Isn’t Ehlers-Danlos Syndrome (EDS) all about: • hypermobility? • musculoskeletal issues? • pain? • skin issues? • vascular issues?

    What do gut functions have to do with EDS?

    Presenter Presentation Notes Why this topic?

    The minor diagnostic criteria for Classic EDS (CEDS) include manifestations of tissue extensibility and fragility (e.g., hiatal hernia, rectal prolapse).

    The diagnostic criteria for Vascular EDS (VEDS) include complications including rupture or perforation of hollow organs such as the bowel.

    The official clinical criteria for CEDS, Hypermobile EDS (HEDS), and VEDS Types otherwise do not mention digestion, nutrition, bowel function, or gut-related immunity.

    References:

    Malfait F, Wenstrup R, De Paepe A. Ehlers-Danlos Syndrome, Classic Type. 2007 May 29 [updated 2011 Aug 18]. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. (See: http://www.ncbi.nlm.nih.gov/books/NBK1244/, http://www.nature.com/gim/journal/v12/n10/pdf/gim2010100a.pdf)

    Levy HP. Ehlers-Danlos Syndrome, Hypermobility Type. 2004 Oct 22 [updated 2012 Sep 13]. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. (See: http://www.ncbi.nlm.nih.gov/books/NBK1279/)

    Pepin MG, Byers PH. Ehlers-Danlos Syndrome Type IV. 1999 Sep 02 [updated 2011 May 03]. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. (See: http://www.ncbi.nlm.nih.gov/books/NBK1494/)

  • Gastrointestinal Complications of Ehlers-Danlos Syndrome

    Conditions / symptoms caused by gastrointestinal connective tissue abnormalities in EDS include:

    • structural / anatomic issues. • dysmotility. • Functional Gastrointestinal Disorders. • dysbiosis. • inflammation. • increased permeability. • malabsorption (malnutrition). • gut-related immune dysregulation. • pain.

    The autonomic nervous system abnormalities common in EDS may cause additional GI symptoms.

    Presenter Presentation Notes further inflammation, allergies, autoimmune conditions may affect digestive tract and other organ systems

  • Gastrointestinal Complications of Ehlers-Danlos Syndrome

    Gastrointestinal complications of EDS are: • common. • potentially disabling. • well-documented in existing literature. • under-appreciated by clinicians.

    Presenter Presentation Notes GI complications of EDS are:

    …common: a majority of persons with EDS suffer gastrointestinal complications – 50% to 85% depending on the specific complication(s) (see references below).

    …potentially disabling: Of course, gut rupture or perforation associated with VEDS is potentially fatal. However, many persons with suspected or confirmed EDS types other than VEDS will attest to the often disabling gut- or immune-related symptoms with which they suffer.

    …under-appreciated: Surgeons are typically aware of GI complications related to VEDS, such as rupture. However, there is widespread under-appreciation of myriad GI complications beyond those well-documented for persons with VEDS.

    …well-documented: These issues have long been recognized and documented, despite the fairly ubiquitous patient experience of lack of recognition or acknowledgement of their connection to EDS by their involved MDs.

    References (a selected bibliography):

    Levy HP. Ehlers-Danlos Syndrome, Hypermobility Type. 2004 Oct 22 [updated 2012 Sep 13]. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. (See: http://www.ncbi.nlm.nih.gov/books/NBK1279/)

    Burcharth J, Rosenberg J. Gastrointestinal surgery and related complications in patients with Ehlers-Danlos syndrome: a systematic review. Dig Surg. 2012;29(4):349-57. doi: 10.1159/000343738. Epub 2012 Oct 22. Review. PubMed PMID: 23095510. (See: http://www.ncbi.nlm.nih.gov/pubmed/23095510, http://www.karger.com/Article/Pdf/343738)

    Castori M, Camerota F, Celletti C, Danese C, Santilli V, Saraceni VM, Grammatico P. Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: a pilot study on 21 patients. Am J Med Genet A. 2010 Mar;152A(3):556-64. doi: 10.1002/ajmg.a.33231. PubMed PMID: 20140961. (See: http://www.ncbi.nlm.nih.gov/pubmed/23095510, http://www.ehlersdanlos.it/Public/Dynamic/Documents/Document634103349567582849.pdf)

    Castori M. Surgical recommendations in Ehlers-Danlos syndrome(s) need patient classification: the example of Ehlers-Danlos syndrome hypermobility type (a.k.a. joint hypermobility syndrome). Dig Surg. 2012;29(6):453-5. doi: 10.1159/000346068. Epub 2013 Jan 7. PubMed PMID: 23295898. (See: http://www.ncbi.nlm.nih.gov/pubmed/23295898, http://www.karger.com/Article/Pdf/346068)

    Burcharth J, Rosenberg J. Surgical recommendations in Ehlers-Danlos syndrome(s) need patient classification: the example of Ehlers-Danlos syndrome hypermobility type (a.k.a. joint hypermobility syndrome)---reply. Dig Surg. 2012;29(6):456. doi: 10.1159/000345998. Epub 2013 Jan 7. PubMed PMID: 23295973. (See: http://www.ncbi.nlm.nih.gov/pubmed/23295973, http://www.karger.com/Article/Pdf/345998)

    Reinstein E, Pimentel M, Pariani M, Nemec S, Sokol T, Rimoin DL. Visceroptosis of the bowel in the hypermobility type of Ehlers-Danlos syndrome: presentation of a rare manifestation and review of the literature. Eur J Med Genet. 2012 Oct;55(10):548-51. doi: 10.1016/j.ejmg.2012.06.012. Epub 2012 Jul 7. Review. PubMed PMID: 22781752; PubMed Central PMCID: PMC3568682. (See: http://www.ncbi.nlm.nih.gov/pubmed/22781752, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3568682/pdf/nihms392200.pdf)

  • Gastrointestinal Complications of Ehlers-Danlos Syndrome: Potentially Disabling

    Teenager, 18, is fed through her heart via a drip after being diagnosed with life-threatening tissue disorder

    By Larisa Brown PUBLISHED: 10:58 EST, 26 August 2012 | UPDATED: 12:16 EST, 26 August 2012

    “Jodie, of Carlisle, Cumbria, has Ehlers-Danlos Syndrome Hypermobility Type III (EDS), a disorder that affects the collagen in the body and can also interfere with the way internal organs, nerves and muscles work.” “Jodie has severe complex intestinal failure, has had her large bowel removed and a permanent stoma bag fitted, her small intestine has stopped working, her stomach doesn't function and her bladder has failed. It was hoped she would be able to get a five-organ transplant but doctors have said she would not survive the surgery. As the teenager cannot tolerate food she has not eaten since 2009 and is fed intravenously into the heart by a Total Parental Nutrition tube (TPN), however, this comes with serious risks including septicaemia and liver disease.”

    Presenter Presentation Notes Gastrointestinal complications of are potentially disabling, even in HEDS.

    Reference:

    http://www.dailymail.co.uk/news/article-2193857/Ehlers-Danlos-Syndrome-Jodie-Vasquez-fed-heart-drip-diagnosed-disorder.html

  • Gastrointestinal Complications of Ehlers-Danlos Syndrome: Well-documented in Existing Literature

    Presenter Presentation Notes Gastrointestinal complications of EDS are well-documented in existing literature. References span more than 5 decades.

    1969

    EDS patients should recognize in particular one of the authors: Peter Beighton.

    Note that both “lethal” and “non-lethal” gastrointestinal complications are acknowledged.

    Reference:

    Beighton PH, Murdoch JL, Votteler T. Gastrointestinal complications of the Ehlers-Danlos syndrome. Gut. 1969 Dec;10(12):1004-8.PubMed [citation] PMID: 5308459, PMCID: PMC1553023 (See: http://www.ncbi.nlm.nih.gov/pubmed/5308459, http://gut.bmj.com/content/10/12/1004.full.pdf)

  • Gastrointestinal Complications of Ehlers-Danlos Syndrome: Well-documented in Existing Literature

    Presenter Presentation Notes 1996

    The authors