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Gastrointestinal angiodysplasia

MedGen UID:
163130
Concept ID:
C0854242
Disease or Syndrome
Synonym: GI angiodysplasia
 
HPO: HP:0000471

Definition

Dysplasia affecting the vasculature of the gastrointestinal tract. [from HPO]

Term Hierarchy

Conditions with this feature

von Willebrand disease type 1
MedGen UID:
220393
Concept ID:
C1264039
Disease or Syndrome
Von Willebrand disease (VWD) is characterized by mucocutaneous bleeding and excessive bleeding with trauma and procedures. Individuals with more severe forms of VWD are also at-risk for musculoskeletal bleeding. Mucocutaneous bleeding can include easy bruising, prolonged bleeding from minor wounds, epistaxis, oral cavity bleeding, heavy menstrual bleeding, gastrointestinal bleeding, and bleeding with hemostatic challenges such as dental work, childbirth, and surgery. Bleeding severity can vary widely in VWD, even between affected individuals within the same family. For some with VWD the bleeding phenotype may only become apparent upon hemostatic challenge, while others may have frequent spontaneous bleeding.
Telangiectasia, hereditary hemorrhagic, type 2
MedGen UID:
324960
Concept ID:
C1838163
Disease or Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.
Telangiectasia, hereditary hemorrhagic, type 1
MedGen UID:
1643786
Concept ID:
C4551861
Disease or Syndrome
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.

Professional guidelines

PubMed

Becq A, Sidhu R, Goltstein LCMJ, Dray X
United European Gastroenterol J 2024 Oct;12(8):1128-1135. Epub 2024 Sep 4 doi: 10.1002/ueg2.12648. PMID: 39229890Free PMC Article
Yashige M, Inoue K, Zen K, Kobayashi R, Nakamura S, Fujimoto T, Takamatsu K, Sugino S, Yamano M, Yamano T, Nakamura T, Doman T, Teramukai S, Horiuchi H, Itoh Y, Matoba S
N Engl J Med 2023 Oct 19;389(16):1530-1532. doi: 10.1056/NEJMc2306027. PMID: 37851881
Sami SS, Al-Araji SA, Ragunath K
Aliment Pharmacol Ther 2014 Jan;39(1):15-34. Epub 2013 Oct 20 doi: 10.1111/apt.12527. PMID: 24138285

Recent clinical studies

Etiology

Goltstein LCMJ, Rooijakkers MJP, Thierens NDE, Schoormans SCM, van Herwaarden AE, Beaumont H, Houdeville C, Hoeks MPA, van Geenen EM, Rijpma SR, Dray X, van Royen N, Drenth JPH
JAMA Netw Open 2024 Oct 1;7(10):e2442324. doi: 10.1001/jamanetworkopen.2024.42324. PMID: 39476231Free PMC Article
Sugino S, Inoue K, Zen K, Yashige M, Kobayashi R, Takamatsu K, Ito N, Iwai N, Hirose R, Doi T, Dohi O, Yoshida N, Uchiyama K, Takagi T, Ishikawa T, Konishi H, Matoba S, Itoh Y
Digestion 2023;104(6):468-479. Epub 2023 Aug 24 doi: 10.1159/000533237. PMID: 37619533Free PMC Article
Patel SR, Vukelic S, Chinnadurai T, Madan S, Sibinga N, Kwah J, Saeed O, Goldstein DJ, Jorde UP
J Heart Lung Transplant 2022 Feb;41(2):129-132. Epub 2021 Nov 14 doi: 10.1016/j.healun.2021.11.009. PMID: 34911655
Mohee K, Aldalati O, Dworakowski R, Haboubi H
Cardiol J 2020;27(1):72-77. Epub 2018 Jul 16 doi: 10.5603/CJ.a2018.0068. PMID: 30009379Free PMC Article
Pate GE, Chandavimol M, Naiman SC, Webb JG
J Heart Valve Dis 2004 Sep;13(5):701-12. PMID: 15473466

Diagnosis

Becq A, Sidhu R, Goltstein LCMJ, Dray X
United European Gastroenterol J 2024 Oct;12(8):1128-1135. Epub 2024 Sep 4 doi: 10.1002/ueg2.12648. PMID: 39229890Free PMC Article
Patel SR, Vukelic S, Chinnadurai T, Madan S, Sibinga N, Kwah J, Saeed O, Goldstein DJ, Jorde UP
J Heart Lung Transplant 2022 Feb;41(2):129-132. Epub 2021 Nov 14 doi: 10.1016/j.healun.2021.11.009. PMID: 34911655
Jackson CS, Strong R
Gastrointest Endosc Clin N Am 2017 Jan;27(1):51-62. doi: 10.1016/j.giec.2016.08.012. PMID: 27908518
Sami SS, Al-Araji SA, Ragunath K
Aliment Pharmacol Ther 2014 Jan;39(1):15-34. Epub 2013 Oct 20 doi: 10.1111/apt.12527. PMID: 24138285
Dodda G, Trotman BW
J Assoc Acad Minor Phys 1997;8(1):16-9. PMID: 9048468

Therapy

Alhamid A, Aljarad Z, Chaar A, Grimshaw A, Hanafi I
Cochrane Database Syst Rev 2024 Sep 19;9(9):CD014582. doi: 10.1002/14651858.CD014582. PMID: 39297500Free PMC Article
Becq A, Sidhu R, Goltstein LCMJ, Dray X
United European Gastroenterol J 2024 Oct;12(8):1128-1135. Epub 2024 Sep 4 doi: 10.1002/ueg2.12648. PMID: 39229890Free PMC Article
Patel SR, Vukelic S, Chinnadurai T, Madan S, Sibinga N, Kwah J, Saeed O, Goldstein DJ, Jorde UP
J Heart Lung Transplant 2022 Feb;41(2):129-132. Epub 2021 Nov 14 doi: 10.1016/j.healun.2021.11.009. PMID: 34911655
Sami SS, Al-Araji SA, Ragunath K
Aliment Pharmacol Ther 2014 Jan;39(1):15-34. Epub 2013 Oct 20 doi: 10.1111/apt.12527. PMID: 24138285
Hodgson H
Lancet 2002 May 11;359(9318):1630-1. doi: 10.1016/S0140-6736(02)08542-2. PMID: 12020519

Prognosis

Patel SR, Vukelic S, Chinnadurai T, Madan S, Sibinga N, Kwah J, Saeed O, Goldstein DJ, Jorde UP
J Heart Lung Transplant 2022 Feb;41(2):129-132. Epub 2021 Nov 14 doi: 10.1016/j.healun.2021.11.009. PMID: 34911655
Khan A, Gupta K, Chowdry M, Sharma S, Maheshwari S, Patel C, Naseem K, Pervez H, Bilal M, Ali Khan M, Singh S
Eur J Gastroenterol Hepatol 2022 Jan 1;34(1):11-17. doi: 10.1097/MEG.0000000000002027. PMID: 33405425
Chiu YC, Lu LS, Wu KL, Tam W, Hu ML, Tai WC, Chiu KW, Chuah SK
BMC Gastroenterol 2012 Jun 9;12:67. doi: 10.1186/1471-230X-12-67. PMID: 22681987Free PMC Article
Warkentin TE, Moore JC, Morgan DG
Lancet 1992 Jul 4;340(8810):35-7. doi: 10.1016/0140-6736(92)92434-h. PMID: 1351610
Jakab F, Balázs M, Faller J, Kiss S
Acta Chir Hung 1991;32(1):57-68. PMID: 1785223

Clinical prediction guides

Nasr S, Khsiba A, Hamzaoui L, Mahmoudi M, Ben-Mohamed A, Yaakoubi M, Medhioub M, Azzouz M
Rev Gastroenterol Mex (Engl Ed) 2024 Jan-Mar;89(1):31-41. Epub 2023 Mar 15 doi: 10.1016/j.rgmxen.2023.03.002. PMID: 36931959
Khan A, Gupta K, Chowdry M, Sharma S, Maheshwari S, Patel C, Naseem K, Pervez H, Bilal M, Ali Khan M, Singh S
Eur J Gastroenterol Hepatol 2022 Jan 1;34(1):11-17. doi: 10.1097/MEG.0000000000002027. PMID: 33405425
Khatri NV, Patel B, Kohli DR, Solomon SS, Bull-Henry K, Kessler CM
Haemophilia 2018 Mar;24(2):278-282. Epub 2018 Feb 15 doi: 10.1111/hae.13419. PMID: 29446520
Brown C, Subramanian V, Wilcox CM, Peter S
Dig Dis Sci 2010 Aug;55(8):2129-34. doi: 10.1007/s10620-010-1193-6. PMID: 20393879
Jakab F, Balázs M, Faller J, Kiss S
Acta Chir Hung 1991;32(1):57-68. PMID: 1785223

Recent systematic reviews

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