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Gastrointestinal angiodysplasia

MedGen UID:
504454
Concept ID:
CN000439
Finding
 
HPO: HP:0000471

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGastrointestinal angiodysplasia

Conditions with this feature

Osler hemorrhagic telangiectasia syndrome
MedGen UID:
52657
Concept ID:
C0039445
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. Although HHT is a developmental disorder and infants are occasionally severely affected, in most people the features are age-dependent and the diagnosis not suspected until adolescence or later. Small AVMs (or telangiectases) close to the surface of the skin and mucous membranes often rupture and bleed after slight trauma. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Approximately 25% of individuals with HHT have GI bleeding, which most commonly begins after age 50 years. Large AVMs often cause symptoms when they occur in the brain, liver, or lungs; complications from bleeding or shunting may be sudden and catastrophic.
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. Type 1 VWD (~70% of VWD) typically manifests as mild mucocutaneous bleeding. Type 2 VWD accounts for approximately 25% of VWD; the subtypes are: 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 (<5% of VWD) manifests with severe mucocutaneous and musculoskeletal bleeding. Diagnosis/testing The diagnosis of VWD typically requires assays of hemostasis factors specific for VWD and/or molecular genetic testing of VWF, the only gene in which pathogenic variants are known to cause VWD. In most cases the diagnosis requires a positive family history. ManagementTreatment of manifestations: Affected individuals benefit from care in a comprehensive bleeding disorders program. Severe bleeding episodes can be prevented or controlled with intravenous infusion of virally inactivated plasma-derived clotting factor concentrates containing both VWF and FVIII; depending on the VWD type, mild bleeding episodes usually respond to intravenous or subcutaneous treatment with desmopressin, a vasopressin analog. Other treatments that can reduce symptoms include fibrinolytic inhibitors and hormones for menorrhagia. Pregnant women with VWD are at increased risk for bleeding complications at or following childbirth. Prevention of primary manifestations: Prophylactic infusions of VWF/FVIII concentrates in individuals with type 3 VWD. Prevention of secondary complications: Cautious use of desmopressin (particularly in those age <2 years because of the potential difficulty in restricting fluids in this age group). Vaccination for hepatitis A and B. Surveillance: Follow up in centers experienced in the management of bleeding disorders. For those with type 3 VWD: periodic evaluations by a physiotherapist to monitor joint mobility. Agents/circumstances to avoid: Activities involving a high risk of trauma, particularly head injury; medications with effects on platelet function (ASA, clopidogrel, or NSAIDS); circumcision in infant males should only be considered following consultation with a hematologist. Evaluation of relatives at risk: If the familial pathogenic variant(s) are known, molecular genetic testing for at-risk relatives to allow early diagnosis and treatment, if needed. Pregnancy management: As VWF levels increase throughout pregnancy, women with baseline VWF and FVIII levels of >30 IU/dL are likely to achieve normal levels by the time of delivery, whereas those with a basal level <20 IU/dL and those with baseline VWF:RCo/VWF:Ag ratio <0.6, are likely to require replacement therapy; desmopressin has been used successfully to cover delivery in women with type 1 VWD; delayed, secondary postpartum bleeding may be a problem. Therapies under investigation: Recombinant VWF, now in clinical trials, is expected to be available soon for use instead of plasma-derived VWF.
Hereditary hemorrhagic telangiectasia 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. Although HHT is a developmental disorder and infants are occasionally severely affected, in most people the features are age-dependent and the diagnosis not suspected until adolescence or later. Small AVMs (or telangiectases) close to the surface of the skin and mucous membranes often rupture and bleed after slight trauma. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Approximately 25% of individuals with HHT have GI bleeding, which most commonly begins after age 50 years. Large AVMs often cause symptoms when they occur in the brain, liver, or lungs; complications from bleeding or shunting may be sudden and catastrophic.

Recent clinical studies

Etiology

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. [Epub ahead of print] PMID: 22681987Free PMC Article
Eickhoff A, Enderle MD, Hartmann D, Eickhoff JC, Riemann JF, Jakobs R
Z Gastroenterol 2011 Feb;49(2):195-200. Epub 2011 Feb 4 doi: 10.1055/s-0029-1245785. PMID: 21298605
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. [Epub ahead of print] PMID: 21239239
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. PMID: 11677198
Oneglia C, Sabatini T, Rusconi C, Gardini A, Paterlini A, Buffoli F, Graffeo M
Eur J Med 1993 Feb;2(2):75-8. PMID: 8258021

Diagnosis

Franchini M, Mannucci PM
Thromb Haemost 2014 Sep 2;112(3):427-31. Epub 2014 Jun 5 doi: 10.1160/TH13-11-0952. [Epub ahead of print] 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. [Epub ahead of print] PMID: 24138285
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. [Epub ahead of print] PMID: 22681987Free PMC Article
Oneglia C, Sabatini T, Rusconi C, Gardini A, Paterlini A, Buffoli F, Graffeo M
Eur J Med 1993 Feb;2(2):75-8. PMID: 8258021
Cappell MS
Dig Dis Sci 1992 Jul;37(7):1072-7. PMID: 1618055

Therapy

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. [Epub ahead of print] PMID: 24138285
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. [Epub ahead of print] PMID: 22681987Free PMC Article
Eickhoff A, Enderle MD, Hartmann D, Eickhoff JC, Riemann JF, Jakobs R
Z Gastroenterol 2011 Feb;49(2):195-200. Epub 2011 Feb 4 doi: 10.1055/s-0029-1245785. PMID: 21298605
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. [Epub ahead of print] PMID: 21239239
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. PMID: 11677198

Prognosis

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. [Epub ahead of print] PMID: 22681987Free PMC Article
Junquera F, Saperas E, Videla S, Feu F, Vilaseca J, Armengol JR, Bordas JM, Piqué JM, Malagelada JR
Am J Gastroenterol 2007 Feb;102(2):254-60. doi: 10.1111/j.1572-0241.2007.01053.x. PMID: 17311647
Junquera F, Saperas E, Anglés A, Abadía C, Monasterio J, Malagelada JR
Eur J Gastroenterol Hepatol 2005 Feb;17(2):199-205. PMID: 15674098
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. PMID: 11677198
Warkentin TE, Moore JC, Morgan DG
Lancet 1992 Jul 4;340(8810):35-7. PMID: 1351610

Clinical prediction guides

Scaglione G, Pietrini L, Russo F, Franco MR, Sorrentini I
Aliment Pharmacol Ther 2007 Sep 15;26(6):935-42. doi: 10.1111/j.1365-2036.2007.03435.x. PMID: 17767478
Junquera F, Saperas E, Videla S, Feu F, Vilaseca J, Armengol JR, Bordas JM, Piqué JM, Malagelada JR
Am J Gastroenterol 2007 Feb;102(2):254-60. doi: 10.1111/j.1572-0241.2007.01053.x. PMID: 17311647
Junquera F, Saperas E, Anglés A, Abadía C, Monasterio J, Malagelada JR
Eur J Gastroenterol Hepatol 2005 Feb;17(2):199-205. PMID: 15674098
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. PMID: 11677198
Jakab F, Balázs M, Faller J, Kiss S
Acta Chir Hung 1991;32(1):57-68. PMID: 1785223

Recent systematic reviews

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. [Epub ahead of print] PMID: 24138285
Brown C, Subramanian V, Wilcox CM, Peter S
Dig Dis Sci 2010 Aug;55(8):2129-34. doi: 10.1007/s10620-010-1193-6. [Epub ahead of print] PMID: 20393879

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