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

Genetics in Medicine

Volumn 16, Issue 1, 2014, Pages 3-10

  Canzonieri, Cecilia ^a   Centenara, Laura ^b   Ornati, Federica ^a   Pagella, Fabio ^b   Matti, Elina ^b   Alvisi, Costanza ^b   Danesino, Cesare ^a   Perego, Maurizio ^b   Olivieri, Carla ^a  

^a UNIVERSITY OF PAVIA   (Italy)

^b FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

ACVRL1; endoscopy; ENG; gastrointestinal telangiectases; hereditary hemorrhagic telangiectasia (HHT)

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; ENDOGLIN; SMAD4 PROTEIN;

ADULT; AGED; ARTERIOVENOUS MALFORMATION; ARTICLE; CAPSULE ENDOSCOPY; CLINICAL ARTICLE; COLON ADENOMA; COLON POLYP; COLONOSCOPY; CONTROLLED STUDY; DUODENUM; ENDOSCOPE; EPISTAXIS; ESOPHAGOGASTRODUODENOSCOPY; EXON; FEMALE; GASTROINTESTINAL ENDOSCOPY; GASTROINTESTINAL HEMORRHAGE; GENE MUTATION; GENETIC CORRELATION; GENOTYPE; HUMAN; MALE; MIDDLE AGED; MOLECULAR BIOLOGY; NUCLEOTIDE SEQUENCE; RENDU OSLER WEBER DISEASE; VIDEORECORDING;

ACTIVIN RECEPTORS, TYPE II; ADENOMATOUS POLYPS; AGED; ANTIGENS, CD; CAPSULE ENDOSCOPY; ENDOSCOPY, GASTROINTESTINAL; FEMALE; GASTROINTESTINAL TRACT; GENOTYPE; HUMANS; INCIDENTAL FINDINGS; MALE; MIDDLE AGED; MUTATION; RECEPTORS, CELL SURFACE; SMAD4 PROTEIN; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 84893540456     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.62     Document Type: Article

References (31)

1. Shovlin CL. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev 2010;24:203-219.
2. McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med 2011;13:607-616.
3. Faughnan ME, Palda VA, Garcia-Tsao G, et al.; HHT Foundation International-Guidelines Working Group. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet 2011;48:73-87.
4. Lesca G, Genin E, Blachier C, et al.; French-Italian HHT Network. Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients. Eur J Hum Genet 2008;16:742-749.
5. Westermann CJ, Rosina AF, De Vries V, de Coteau PA. The prevalence and manifestations of hereditary hemorrhagic telangiectasia in the Afro-Caribbean population of the Netherlands Antilles: a family screening. Am J Med Genet A 2003;116A:324-328.
6. Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000;91:66-67.
7. McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994;8:345-351.
8. Johnson DW, Berg JN, Baldwin MA, et al. Mutations in the activin receptorlike kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996;13:189-195.
9. Gallione CJ, Repetto GM, Legius E, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004;363:852-859.
10. Cole SG, Begbie ME, Wallace GM, Shovlin CL. A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. J Med Genet 2005;42:577-582.
11. Bayrak-Toydemir P, McDonald J, Akarsu N, et al. A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. Am J Med Genet A 2006;140:2155-2162.
12. Kjeldsen AD, Møller TR, Brusgaard K, Vase P, Andersen PE. Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia. J Intern Med 2005;258:349-355.
13. Lesca G, Olivieri C, Burnichon N, et al.; French-Italian-Rendu-Osler Network. Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. Genet Med 2007;9:14-22.
14. Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet 2009;17:860-871.
15. Smith CR Jr, Bartholomew LG, Cain JC. Hereditary hemorrhagic telangiectasia and gastrointestinal hemorrhage. Gastroenterology 1963;44:1-6.
16. Vase P, Grove O. Gastrointestinal lesions in hereditary hemorrhagic telangiectasia. Gastroenterology 1986;91:1079-1083.
17. Kjeldsen AD, Kjeldsen J. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am J Gastroenterol 2000;95:415-418.
18. Longacre AV, Gross CP, Gallitelli M, Henderson KJ, White RI Jr, Proctor DD. Diagnosis and management of gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am J Gastroenterol 2003;98:59-65.
19. Ingrosso M, Sabbà C, Pisani A, et al. Evidence of small-bowel involvement in hereditary hemorrhagic telangiectasia: a capsule-endoscopic study. Endoscopy 2004;36:1074-1079.
20. Chamberlain SM, Patel J, Carter Balart J, Gossage JR Jr, Sridhar S. Evaluation of patients with hereditary hemorrhagic telangiectasia with video capsule endoscopy: a single-center prospective study. Endoscopy 2007;39:516-520.
21. van Tuyl SA, Letteboer TG, Rogge-Wolf C, et al. Assessment of intestinal vascular malformations in patients with hereditary hemorrhagic teleangiectasia and anemia. Eur J Gastroenterol Hepatol 2007;19:153-158.
22. Grève E, Moussata D, Gaudin JL, et al. High diagnostic and clinical impact of small-bowel capsule endoscopy in patients with hereditary hemorrhagic telangiectasia with overt digestive bleeding and/or severe anemia. Gastrointest Endosc 2010;71:760-767.
23. Olivieri C, Pagella F, Semino L, et al. Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. J Hum Genet 2007;52:820-829.
24. Yano T, Yamamoto H. Vascular, polypoid, and other lesions of the small bowel. Best Pract Res Clin Gastroenterol 2009;23:61-74.
25. Foutch PG. Angiodysplasia of the gastrointestinal tract. Am J Gastroenterol 1993;88:807-818.
26. Iddan GJ, Swain CP. History and development of capsule endoscopy. Gastrointest Endosc Clin N Am 2004;14:1-9.
27. Proctor DD, Henderson KJ, Dziura JD, Longacre AV, White RI Jr. Enteroscopic evaluation of the gastrointestinal tract in symptomatic patients with hereditary hemorrhagic telangiectasia. J Clin Gastroenterol 2005;39: 115-119.
28. Scotti C, Olivieri C, Boeri L, et al. Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain. PLoS ONE 2011;6:e26431.
29. Szilagyi A, Ghali MP. Pharmacological therapy of vascular malformations of the gastrointestinal tract. Can J Gastroenterol 2006;20:171-178.
30. Forsberg AM, Kjellström L, Agréus L, et al. Prevalence of colonic neoplasia and advanced lesions in the normal population: a prospective population-based colonoscopy study. Scand J Gastroenterol 2012;47:184-190.
31. Elinav E, Salameh-Giryes S, Ackerman Z, Goldschmidt N, Nissan A, Chajek-Shaul T. Does any lower gastrointestinal bleeding in patients suffering from hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu) necessitate a full colonic visualization? Int J Colorectal Dis 2004;19:595-598.