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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), a congenital bleeding disorder caused by deficient or defective plasma von Willebrand factor (VWF), may only become apparent on hemostatic challenge, and bleeding history may become more apparent with increasing age. Recent guidelines on VWD have recommended taking a VWF level of 30 or 40 IU/dL as a cutoff for those diagnosed with the disorder. Individuals with VWF levels greater than 30 IU/dL and lower than 50 IU/dL can be described as having a risk factor for bleeding. This change in guidelines significantly alters the proportion of individuals with each disease type. Type 1 VWD (~30% of VWD) typically manifests as mild mucocutaneous bleeding. Type 2 VWD accounts for approximately 60% of VWD. Type 2 subtypes include: Type 2A, which usually manifests as mild-to-moderate mucocutaneous bleeding; Type 2B, which typically manifests as mild-to-moderate mucocutaneous bleeding that can include thrombocytopenia that worsens in certain circumstances; Type 2M, which typically manifests as mild-moderate mucocutaneous bleeding; Type 2N, which can manifest as excessive bleeding with surgery and mimics mild hemophilia A. Type 3 VWD (<10% of VWD) manifests with severe mucocutaneous and musculoskeletal 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

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
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

Recent clinical studies

Etiology

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
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
Dray X, Camus M, Coelho J, Ozenne V, Pocard M, Marteau P
Dig Liver Dis 2011 Jul;43(7):515-22. Epub 2011 Jan 15 doi: 10.1016/j.dld.2010.12.007. PMID: 21239239
Pate GE, Chandavimol M, Naiman SC, Webb JG
J Heart Valve Dis 2004 Sep;13(5):701-12. PMID: 15473466
Warkentin TE, Moore JC, Morgan DG
Lancet 1992 Jul 4;340(8810):35-7. doi: 10.1016/0140-6736(92)92434-h. PMID: 1351610

Diagnosis

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
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
Franchini M, Mannucci PM
Thromb Haemost 2014 Sep 2;112(3):427-31. Epub 2014 Jun 5 doi: 10.1160/TH13-11-0952. PMID: 24898873
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

Fujimori S
World J Gastroenterol 2023 Feb 21;29(7):1131-1138. doi: 10.3748/wjg.v29.i7.1131. PMID: 36926669Free PMC Article
Cheloff AZ, Song AB, D'Silva KM, Al-Samkari H
J Thromb Thrombolysis 2022 Apr;53(3):708-711. Epub 2021 Oct 25 doi: 10.1007/s11239-021-02590-5. PMID: 34694540
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
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
Dray X, Camus M, Coelho J, Ozenne V, Pocard M, Marteau P
Dig Liver Dis 2011 Jul;43(7):515-22. Epub 2011 Jan 15 doi: 10.1016/j.dld.2010.12.007. PMID: 21239239

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
Arribas Anta J, Zaera de la Fuente C, Martín Mateos R, González Martín JA, Cañete Ruiz A, Boixeda de Miquel D, Albillos Martínez A
Rev Gastroenterol Mex 2017 Jan-Mar;82(1):26-31. Epub 2016 Nov 25 doi: 10.1016/j.rgmx.2016.05.004. PMID: 27894604
Muthiah K, Robson D, Macdonald PS, Keogh AM, Kotlyar E, Granger E, Dhital K, Spratt P, Hayward CS
Int J Artif Organs 2013 Jul;36(7):449-54. Epub 2013 May 20 doi: 10.5301/ijao.5000224. PMID: 23897227
Warkentin TE, Moore JC, Morgan DG
Lancet 1992 Jul 4;340(8810):35-7. doi: 10.1016/0140-6736(92)92434-h. PMID: 1351610

Clinical prediction guides

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
Kang J, Hennessy-Strahs S, Kwiatkowski P, Bermudez CA, Acker MA, Atluri P, McConnell PI, Bartoli CR
Circ Res 2017 Sep 29;121(8):963-969. Epub 2017 Jul 20 doi: 10.1161/CIRCRESAHA.117.310848. PMID: 28729354
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
Junquera F, Feu F, Papo M, Videla S, Armengol JR, Bordas JM, Saperas E, Piqué JM, Malagelada JR
Gastroenterology 2001 Nov;121(5):1073-9. doi: 10.1053/gast.2001.28650. PMID: 11677198

Recent systematic reviews

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