Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes

Canzonieri, Cecilia; Centenara, L.; Ornati, Federica; Pagella, Fabio; Matti, Elina; Alvisi, C; Danesino, Cesare; Perego, M.; Olivieri, Carla

doi:10.1038/gim.2013.62

Cited by 51 publications

(48 citation statements)

References 30 publications

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“…Various studies have used esophagogastroduodenoscopy (EGD) and video capsule endoscopy (VCE) to estimate the incidence of these findings and compare to that of the general population. Canzonieri et al [22] measured the extent of GI involvement in 22 men with HHT using EGD, VCE, and colonoscopy and found gastric and small bowel telangiectasias in 64 and 91% of HHT patients, respectively. Grève [23] reported similar findings in 46.7 and 86.7% of HHT patients, though this study was primarily composed of HHT2 patients.…”

Section: Introductionmentioning

confidence: 99%

Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature

et al. 2017

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Hereditary hemorrhagic telangiectasia (HHT), also called Osler–Weber–Rendu syndrome, is an autosomal dominant genetic disease that affects the vasculature of numerous organs. The prevalence of HHT is estimated to be between 1.5 and 2 persons per 10,000. While there is still much to learn about this condition, there is an increasing understanding its underlying pathophysiology, genetic basis, presentations, and management. Recognizing that the clinical manifestations of HHT can involve a number of organ systems will provide clinicians with a higher index of suspicion for the disease. This early diagnosis and genotyping can greatly reduce mortality for a patient with HHT through appropriate screening for complications. This review will focus on the gastrointestinal manifestations of HHT and how these can dictate treatment and prognosis.

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Section: Introductionmentioning

confidence: 99%

Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature

et al. 2017

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“…[30] c.526-1G > A Missense p.? [14] c.526G > T Missense p.Asp176Tyr [37] c.526delG Deletion p.Asp176Thrfs*82 [19] c.536A > C Missense p.Asp179Ala [51] c.540_541insA Insertion p.Asp181Argfs*44 [29] c.563delC Deletion p.Ser188* [19] c.567delG Deletion p.Leu190Serfs*68 [47] c.573delC Deletion p.Phe192Serfs*66 [26] c.590C > T Missense p.Thr197Ile [24] c.593T > A Missense p.Val198Glu [52] c.598C > G Missense p.Arg200Gly [43] c.601C > T Missense p.Gln201* [45] c.601C > A Missense p.Gln201Lys [30] c.602A > G Missense p.Gln201Arg [53] c.602A > C Missense p.Gln201Pro [19] c.611T > G Missense p.Leu204Trp [19] c.614T > G Missense p.Val205Gly [43] c.617A > G Missense p.Glu206Gly [20] c.617_625delAGTGTGTGG Deletion p.Glu206_Val208del [54] c.620delG Deletion p.Cys207Leufs*51 [14] c.623_624dupTG Duplication p.Gly209Trpfs*50 [39] c.626-9_629del13 Deletion p.? [37] c.626-5_634del14 Deletion p.?…”

Section: Discussionmentioning

confidence: 99%

Novel ACLV1 Mutation Identified in Late Onset Hereditary Hemorrhagic Telangiectasia

Patrick¹,

McIntyre²,

Ramidial³

et al. 2016

IJOHNS

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“…Unlike epistaxis or visceral involvement, which occur since adolescence, GI bleeding begins in the fifth or sixth decades of life [4,13]. The prevalence of GI telangiectasia ranges from 13% to 30% in the overall HHT population to more than 90% in HHT patients with anemia [14][15][16][17][18][19][20].…”

Section: Introductionmentioning

confidence: 99%

“…However, clinical presentation can be diverse, with some patients presenting none or mild anemia, while others require periodic transfusions. Although argon plasma coagulation (APC) is the most effective endoscopic therapy for active GI bleeding, some patients have either multiple or non-accessible telangiectases for APC and usually require additional or alternative therapies [4,13,16,21]. Therefore, pharmacological treatment, such as with estrogen/progesterone, somatostatin analog octreotide, and bevacizumab, has been considered in these patients.…”

Section: Introductionmentioning

confidence: 99%

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Gastrointestinal Bleeding in Patients with Hereditary Hemorrhagic Telangiectasia: Risk Factors and Endoscopic Findings

Mora-Luján

Iriarte

Alba

et al. 2019

JCM

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Background: We aimed to describe risk factors for gastrointestinal (GI) bleeding and endoscopic findings in patients with hereditary hemorrhagic telangiectasia (HHT). Methods: This is a prospective study from a referral HHT unit. Endoscopic tests were performed when there was suspicion of GI bleeding, and patients were divided as follows: with, without, and with unsuspected GI involvement. Results: 67 (27.9%) patients with, 28 (11.7%) patients without, and 145 (60.4%) with unsuspected GI involvement were included. Age, tobacco use, endoglin (ENG) mutation, and hemoglobin were associated with GI involvement. Telangiectases were mostly in the stomach and duodenum, but 18.5% of patients with normal esophagogastroduodenoscopy (EGD) had GI involvement in video capsule endoscopy (VCE). Telangiectases ≤ 3 mm and ≤10 per location were most common. Among patients with GI disease, those with hemoglobin < 8 g/dL or transfusion requirements (65.7%) were older and had higher epistaxis severity score (ESS) and larger telangiectases (>3 mm). After a mean follow-up of 34.2 months, patients with GI involvement required more transfusions and more emergency department and hospital admissions, with no differences in mortality. Conclusions: Risk factors for GI involvement have been identified. Patients with GI involvement and severe anemia had larger telangiectases and higher ESS. VCE should be considered in patients with suspicion of GI bleeding, even if EGD is normal. Author Contributions: Conceptualization: J.M.M.-L. and A.R.-M.; data curation: J.M.M.-L., A.I., A.B., P.C. and A.R.-M.; formal analysis: J.M.M.-L., A.I., P.C. and A.R.-M.; investigation: J.M.Mmethodology: J.M.M.-L. and A.R.-M.; supervision: J.R., J.C. and A.R.-M.; validation: J.M.M.-L., A.I., E.A., M.Á.S.-C., A.B., P.C., F.C., J.R., J.C. and A.R.-M.; visualization: J.M.M.-L., E.A., F.C. and A.R.-M.; writing-original draft preparation: J.M.M.-L., A.I., E.A., M.Á.S.-C., A.B., P.C., F.C. and A.R.-M.; writing-review and editing: J.M.M.-L., J.R., J.C. and A.R.-M; funding acquisition: A.R.-M. All authors have read and agreed to the published version of the manuscript.

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Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes

Cited by 51 publications

References 30 publications

Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature

Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature

Novel ACLV1 Mutation Identified in Late Onset Hereditary Hemorrhagic Telangiectasia

Gastrointestinal Bleeding in Patients with Hereditary Hemorrhagic Telangiectasia: Risk Factors and Endoscopic Findings

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