Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia) Questions & Answers

1. Giordano P, Lenato GM, Suppressa P, Lastella P, Dicuonzo F, Chiumarulo L, et al. Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. J Pediatr. 2013 Jul. 163 (1):179-86.e1-3. [Medline].

2. Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med. 1995 Oct 5. 333 (14):918-24. [Medline].

3. Nanda S, Bhatt SP. Hereditary hemorrhagic telangiectasia: epistaxis and hemoptysis. CMAJ. 2009 Apr 14. 180 (8):838. [Medline].

4. Franchini M, Frattini F, Crestani S, Bonfanti C. Novel treatments for epistaxis in hereditary hemorrhagic telangiectasia: a systematic review of the clinical experience with thalidomide. J Thromb Thrombolysis. 2013 Oct. 36 (3):355-7. [Medline].

5. Haitjema TJ, van Snippenburg R, Disch FJ, Overtoom TT, Westermann CJ. [Recurrent epistaxis: sometimes Rendu-Osler-Weber disease]. Ned Tijdschr Geneeskd. 1996 Nov 2. 140 (44):2157-60. [Medline].

6. Plauchu H, de Chadarévian JP, Bideau A, Robert JM. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet. 1989 Mar. 32 (3):291-7. [Medline].

7. Porteous ME, Burn J, Proctor SJ. Hereditary haemorrhagic telangiectasia: a clinical analysis. J Med Genet. 1992 Aug. 29 (8):527-30. [Medline]. [Full Text].

8. Irani F, Kasmani R. Hereditary hemorrhagic telangiectasia: fatigue and dyspnea. CMAJ. 2009 Apr 14. 180 (8):839. [Medline].

9. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000 Mar 6. 91 (1):66-7. [Medline].

10. Shovlin CL, Hughes JM. Hereditary hemorrhagic telangiectasia. N Engl J Med. 1996 Feb 1. 334 (5):330-1; author reply 331-2. [Medline].

11. Shovlin CL, Letarte M. Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax. 1999 Aug. 54 (8):714-29. [Medline]. [Full Text].

12. Cole SG, Begbie ME, Wallace GM, Shovlin CL. A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. J Med Genet. 2005 Jul. 42 (7):577-82. [Medline]. [Full Text].

13. Prigoda NL, Savas S, Abdalla SA, Piovesan B, Rushlow D, Vandezande K, et al. Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations. J Med Genet. 2006 Sep. 43 (9):722-8. [Medline].

14. Zucco L, Zhang Q, Kuliszewski MA, Kandic I, Faughnan ME, Stewart DJ, et al. Circulating angiogenic cell dysfunction in patients with hereditary hemorrhagic telangiectasia. PLoS One. 2014. 9 (2):e89927. [Medline]. [Full Text].

15. Choi EJ, Chen W, Jun K, Arthur HM, Young WL, Su H. Novel brain arteriovenous malformation mouse models for type 1 hereditary hemorrhagic telangiectasia. PLoS One. 2014. 9 (2):e88511. [Medline]. [Full Text].

16. Braverman IM, Keh A, Jacobson BS. Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol. 1990 Oct. 95 (4):422-7. [Medline].

17. van Laake LW, van den Driesche S, Post S, Feijen A, Jansen MA, Driessens MH, et al. Endoglin has a crucial role in blood cell-mediated vascular repair. Circulation. 2006 Nov 21. 114 (21):2288-97. [Medline].

18. Fernandez-L A, Garrido-Martin EM, Sanz-Rodriguez F, Pericacho M, Rodriguez-Barbero A, Eleno N, et al. Gene expression fingerprinting for human hereditary hemorrhagic telangiectasia. Hum Mol Genet. 2007 Jul 1. 16 (13):1515-33. [Medline].

19. McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med. 2011 Jul. 13 (7):607-16. [Medline].

20. David L, Mallet C, Mazebourg S, Feige J, Bailly S. Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells. Blood. 2007. 109 (5):1953-61. [Medline].

21. Jerkic M, Sotov V, Letarte M. Oxidative stress contributes to endothelial dysfunction in mouse models of hereditary hemorrhagic telangiectasia. Oxid Med Cell Longev. 2012. 2012:686972. [Medline]. [Full Text].

22. Shovlin CL, Hughes JM, Scott J, Seidman CE, Seidman JG. Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. Am J Hum Genet. 1997 Jul. 61 (1):68-79. [Medline]. [Full Text].

23. Grover S, Grewal RS, Verma R, Sahni H, Muralidhar R, Sinha P. Osler-Weber-Rendu syndrome: a case report with familial clustering. Indian J Dermatol Venereol Leprol. 2009 Jan-Feb. 75 (1):100-1. [Medline].

24. Richards-Yutz J, Grant K, Chao EC, Walther SE, Ganguly A. Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. Hum Genet. 2010 Jul. 128 (1):61-77. [Medline].

25. Gedge F, McDonald J, Phansalkar A, Chou LS, Calderon F, Mao R, et al. Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. J Mol Diagn. 2007 Apr. 9 (2):258-65. [Medline]. [Full Text].

26. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet. 1994 Dec. 8 (4):345-51. [Medline].

27. Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet. 1996 Jun. 13 (2):189-95. [Medline].

28. Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet. 2004 Mar 13. 363 (9412):852-9. [Medline].

29. Abdalla SA, Letarte M. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J Med Genet. 2006 Feb. 43 (2):97-110. [Medline]. [Full Text].

30. Rigelsky CM, Jennings C, Lehtonen R, Minai OA, Eng C, Aldred MA. BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia. Am J Med Genet A. 2008 Oct 1. 146A (19):2551-6. [Medline].

31. Begbie ME, Wallace GM, Shovlin CL. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century. Postgrad Med J. 2003 Jan. 79(927):18-24. [Medline]. [Full Text].

32. Kjeldsen AD, Oxhøj H, Andersen PE, Elle B, Jacobsen JP, Vase P. Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia. Chest. 1999 Aug. 116 (2):432-9. [Medline].

33. Dakeishi M, Shioya T, Wada Y, Shindo T, Otaka K, Manabe M, et al. Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. Hum Mutat. 2002 Feb. 19 (2):140-8. [Medline].

34. Kjeldsen AD, Vase P, Green A. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med. 1999 Jan. 245 (1):31-9. [Medline].

35. Jessurun GA, Kamphuis DJ, van der Zande FH, Nossent JC. Cerebral arteriovenous malformations in The Netherlands Antilles. High prevalence of hereditary hemorrhagic telangiectasia-related single and multiple cerebral arteriovenous malformations. Clin Neurol Neurosurg. 1993 Sep. 95 (3):193-8. [Medline].

36. 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 Feb 1. 116A (4):324-8. [Medline].

37. Vase P, Grove O. Gastrointestinal lesions in hereditary hemorrhagic telangiectasia. Gastroenterology. 1986 Nov. 91 (5):1079-83. [Medline].

38. Urushihara M, Furukawa S, Ota A, Iwai A, Matsumura K, Hamada Y. Hemorrhagic telangiectasia with thrombocytopenia in a newborn infant. Pediatr Int. 2000 Dec. 42 (6):693-5. [Medline].

39. Mitchell RN. Blood vessels. Kumar V, Abbas AK, Aster JC, eds. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Philadelphia: Elsevier Saunders; 2015. 483-522.

40. Sabbà C, Pasculli G, Suppressa P, D'Ovidio F, Lenato GM, Resta F, et al. Life expectancy in patients with hereditary haemorrhagic telangiectasia. QJM. 2006 May. 99 (5):327-34. [Medline].

41. Fulbright RK, Chaloupka JC, Putman CM, Sze GK, Merriam MM, Lee GK, et al. MR of hereditary hemorrhagic telangiectasia: prevalence and spectrum of cerebrovascular malformations. AJNR Am J Neuroradiol. 1998 Mar. 19 (3):477-84. [Medline].

42. Rebeiz EE, Bryan DJ, Ehrlichman RJ, Shapshay SM. Surgical management of life-threatening epistaxis in Osler-Weber-Rendu disease. Ann Plast Surg. 1995 Aug. 35 (2):208-13. [Medline].

43. Hoag JB, Terry P, Mitchell S, Reh D, Merlo CA. An epistaxis severity score for hereditary hemorrhagic telangiectasia. Laryngoscope. 2010 Apr. 120 (4):838-43. [Medline].

44. Shovlin CL, Chamali B, Santhirapala V, Livesey JA, Angus G, Manning R, et al. Ischaemic strokes in patients with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: associations with iron deficiency and platelets. PLoS One. 2014. 9 (2):e88812. [Medline]. [Full Text].

45. van Gent MW, Post MC, Snijder RJ, Westermann CJ, Plokker HW, Mager JJ. Real prevalence of pulmonary right-to-left shunt according to genotype in patients with hereditary hemorrhagic telangiectasia: a transthoracic contrast echocardiography study. Chest. 2010 Oct. 138 (4):833-9. [Medline].

46. Lacombe P, Lagrange C, Beauchet A, El Hajjam M, Chinet T, Pelage JP. Diffuse pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: long-term results of embolization according to the extent of lung involvement. Chest. 2009 Apr. 135 (4):1031-1037. [Medline].

47. Jakobi P, Weiner Z, Best L, Itskovitz-Eldor J. Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations. Obstet Gynecol. 2001 May. 97 (5 Pt 2):813-4. [Medline].

48. Cottin V, Dupuis-Girod S, Lesca G, Cordier JF. Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease). Respiration. 2007. 74 (4):361-78. [Medline].

49. Berg J, Porteous M, Reinhardt D, Gallione C, Holloway S, Umasunthar T, et al. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. J Med Genet. 2003 Aug. 40(8):585-90. [Medline]. [Full Text].

50. McDonald MJ, Brophy BP, Kneebone C. Rendu-Osler-Weber syndrome: a current perspective on cerebral manifestations. J Clin Neurosci. 1998 Jul. 5 (3):345-50. [Medline].

51. Poisson A, Vasdev A, Brunelle F, Plauchu H, Dupuis-Girod S, French Italian HHT network. Acute paraplegia due to spinal arteriovenous fistula in two patients with hereditary hemorrhagic telangiectasia. Eur J Pediatr. 2009 Feb. 168 (2):135-9. [Medline].

52. Calhoun AR, Bollo RJ, Garber ST, McDonald J, Stevenson DA, Hung IH, et al. Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia. J Neurosurg Pediatr. 2012 Jun. 9 (6):654-9. [Medline].

53. Goodenberger DM. Visceral manifestations of hereditary hemorrhagic telangiectasia. Trans Am Clin Climatol Assoc. 2004. 115:185-99. [Medline]. [Full Text].

54. Römer W, Burk M, Schneider W. [Hereditary hemorrhagic telangiectasia (Osler's disease)]. Dtsch Med Wochenschr. 1992 Apr 24. 117 (17):669-75. [Medline].

55. AAssar OS, Friedman CM, White RI Jr. The natural history of epistaxis in hereditary hemorrhagic telangiectasia. Laryngoscope. 1991 Sep. 101 (9):977-80. [Medline].

56. White RI Jr, Lynch-Nyhan A, Terry P, Buescher PC, Farmlett EJ, Charnas L, et al. Pulmonary arteriovenous malformations: techniques and long-term outcome of embolotherapy. Radiology. 1988 Dec. 169 (3):663-9. [Medline].

57. Berg JN, Guttmacher AE, Marchuk DA, Porteous ME. Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?. J Med Genet. 1996 Mar. 33 (3):256-7. [Medline]. [Full Text].

58. Cottin V, Chinet T, Lavolé A, Corre R, Marchand E, Reynaud-Gaubert M, et al. Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: a series of 126 patients. Medicine (Baltimore). 2007 Jan. 86 (1):1-17. [Medline].

59. Pierucci P, Murphy J, Henderson KJ, Chyun DA, White RI Jr. New definition and natural history of patients with diffuse pulmonary arteriovenous malformations: twenty-seven-year experience. Chest. 2008 Mar. 133 (3):653-61. [Medline].

60. Trembath RC, Thomson JR, Machado RD, Morgan NV, Atkinson C, Winship I, et al. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. N Engl J Med. 2001 Aug 2. 345 (5):325-34. [Medline].

61. Press OW, Ramsey PG. Central nervous system infections associated with hereditary hemorrhagic telangiectasia. Am J Med. 1984 Jul. 77 (1):86-92. [Medline].

62. García-Mónaco R, Taylor W, Rodesch G, Alvarez H, Burrows P, Coubes P, et al. Pial arteriovenous fistula in children as presenting manifestation of Rendu-Osler-Weber disease. Neuroradiology. 1995 Jan. 37 (1):60-4. [Medline].

63. Krings T, Chng SM, Ozanne A, Alvarez H, Rodesch G, Lasjaunias PL. Hereditary hemorrhagic telangiectasia in children: endovascular treatment of neurovascular malformations: results in 31 patients. Neuroradiology. 2005 Dec. 47 (12):946-54. [Medline].

64. Easey AJ, Wallace GM, Hughes JM, Jackson JE, Taylor WJ, Shovlin CL. Should asymptomatic patients with hereditary haemorrhagic telangiectasia (HHT) be screened for cerebral vascular malformations? Data from 22,061 years of HHT patient life. J Neurol Neurosurg Psychiatry. 2003 Jun. 74 (6):743-8. [Medline]. [Full Text].

65. Maher CO, Piepgras DG, Brown RD Jr, Friedman JA, Pollock BE. Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia. Stroke. 2001 Apr. 32 (4):877-82. [Medline].

66. Cloft HJ. Spontaneous regression of cerebral arteriovenous malformation in hereditary hemorrhagic telangiectasia. AJNR Am J Neuroradiol. 2002 Jun-Jul. 23 (6):1049-50. [Medline].

67. Du R, Hashimoto T, Tihan T, Young WL, Perry V, Lawton MT. Growth and regression of arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia. Case report. J Neurosurg. 2007 Mar. 106 (3):470-7. [Medline].

68. Leung KM, Agid R, terBrugge K. Spontaneous regression of a cerebral arteriovenous malformation in a child with hereditary hemorrhagic telangiectasia. Case report. J Neurosurg. 2006 Nov. 105 (5 Suppl):428-31. [Medline].

69. 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 Feb. 39 (2):115-9. [Medline].

70. Abdalla SA, Geisthoff UW, Bonneau D, Plauchu H, McDonald J, Kennedy S, et al. Visceral manifestations in hereditary haemorrhagic telangiectasia type 2. J Med Genet. 2003 Jul. 40 (7):494-502. [Medline]. [Full Text].

71. van Cutsem E, Rutgeerts P, Vantrappen G. Treatment of bleeding gastrointestinal vascular malformations with oestrogen-progesterone. Lancet. 1990 Apr 21. 335 (8695):953-5. [Medline].

72. Wu JS, Saluja S, Garcia-Tsao G, Chong A, Henderson KJ, White RI Jr. Liver involvement in hereditary hemorrhagic telangiectasia: CT and clinical findings do not correlate in symptomatic patients. AJR Am J Roentgenol. 2006 Oct. 187 (4):W399-405. [Medline].

73. Garcia-Tsao G. Liver involvement in hereditary hemorrhagic telangiectasia (HHT). J Hepatol. 2007 Mar. 46 (3):499-507. [Medline].

74. Garcia-Tsao G, Swanson KL. Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: in search of predictors of significant disease. Hepatology. 2008 Nov. 48 (5):1377-9. [Medline].

75. Larson AM. Liver disease in hereditary hemorrhagic telangiectasia. J Clin Gastroenterol. 2003 Feb. 36 (2):149-58. [Medline].

76. Garcia-Tsao G, Korzenik JR, Young L, Henderson KJ, Jain D, Byrd B, et al. Liver disease in patients with hereditary hemorrhagic telangiectasia. N Engl J Med. 2000 Sep 28. 343 (13):931-6. [Medline].

77. Alizad A, Seward JB. Echocardiographic features of genetic diseases: part 3. Shunts. J Am Soc Echocardiogr. 2000 Mar. 13 (3):248-53. [Medline].

78. Mohler ER 3rd, Doraiswamy V, Sibley A, Bernhardt BA, Pyeritz RE. Transillumination of the fingers for vascular anomalies: a novel method for evaluating hereditary hemorrhagic telangiectasia. Genet Med. 2009 May. 11 (5):356-8. [Medline].

79. Shovlin CL, Sodhi V, McCarthy A, Lasjaunias P, Jackson JE, Sheppard MN. Estimates of maternal risks of pregnancy for women with hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): suggested approach for obstetric services. BJOG. 2008 Aug. 115 (9):1108-15. [Medline].

80. Gershon AS, Faughnan ME, Chon KS, Pugash RA, Clark JA, Bohan MJ, et al. Transcatheter embolotherapy of maternal pulmonary arteriovenous malformations during pregnancy. Chest. 2001 Feb. 119 (2):470-7. [Medline].

81. Khalid SK, Pershbacher J, Makan M, Barzilai B, Goodenberger D. Worsening of nose bleeding heralds high cardiac output state in hereditary hemorrhagic telangiectasia. Am J Med. 2009 Aug. 122 (8):779.e1-9. [Medline].

82. Nanthakumar K, Graham AT, Robinson TI, Grande P, Pugash RA, Clarke JA, et al. Contrast echocardiography for detection of pulmonary arteriovenous malformations. Am Heart J. 2001 Feb. 141 (2):243-6. [Medline].

83. Schneider G, Uder M, Koehler M, Kirchin MA, Massmann A, Buecker A, et al. MR angiography for detection of pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. AJR Am J Roentgenol. 2008 Apr. 190 (4):892-901. [Medline].

84. Shovlin CL, Sulaiman NL, Govani FS, Jackson JE, Begbie ME. Elevated factor VIII in hereditary haemorrhagic telangiectasia (HHT): association with venous thromboembolism. Thromb Haemost. 2007 Nov. 98 (5):1031-9. [Medline].

85. De Pascalis A, Napoli M, Aprile M, Antonaci A, D'Amelio A, Buongiorno E. Gross hematuria due to acquired haemophilia in hereditary hemorrhagic telangiectasia. Blood Coagul Fibrinolysis. 2008 Oct. 19 (7):731-3. [Medline].

86. Faughnan ME, Hyland RH, Nanthakumar K, Redelmeier DA. Screening in hereditary hemorrhagic telangiectasia patients. Chest. 2000 Aug. 118 (2):566-7. [Medline].

87. Thompson RD, Jackson J, Peters AM, Doré CJ, Hughes JM. Sensitivity and specificity of radioisotope right-left shunt measurements and pulse oximetry for the early detection of pulmonary arteriovenous malformations. Chest. 1999 Jan. 115 (1):109-13. [Medline].

88. Manson D, Traubici J, Mei-Zahav M, MacLuskey I, John P, Stephens D. Pulmonary nodular opacities in children with hereditary hemorrhagic telangiectasia. Pediatr Radiol. 2007 Mar. 37 (3):264-8. [Medline].

89. Al-Saleh S, Dragulescu A, Manson D, Golding F, Traubici J, Mei-Zahav M, et al. Utility of contrast echocardiography for pulmonary arteriovenous malformation screening in pediatric hereditary hemorrhagic telangiectasia. J Pediatr. 2012 Jun. 160 (6):1039-43.e1. [Medline].

90. Milot L, Kamaoui I, Gautier G, Pilleul F. Hereditary-hemorrhagic telangiectasia: one-step magnetic resonance examination in evaluation of liver involvement. Gastroenterol Clin Biol. 2008 Aug-Sep. 32 (8-9):677-85. [Medline].

91. Suga K, Ishikawa Y, Matsunaga N, Tanaka N, Suda H, Handa T. Liver involvement in hereditary haemorrhagic telangiectasia: assessment with 99Tcm-phytate radionuclide angiography and 123I-IMP transrectal portal scintigraphy. Br J Radiol. 2000 Oct. 73 (874):1115-9. [Medline].

92. Zukotynski K, Chan RP, Chow CM, Cohen JH, Faughnan ME. Contrast echocardiography grading predicts pulmonary arteriovenous malformations on CT. Chest. 2007 Jul. 132 (1):18-23. [Medline].

93. Wooderchak W, Gedge F, McDonald M, Krautscheid P, Wang X, Malkiewicz J, et al. Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family. Clin Genet. 2010 Nov. 78 (5):484-9. [Medline].

94. [Guideline] Adler DG, Leighton JA, Davila RE, Hirota WK, Jacobson BC, Qureshi WA, et al. ASGE guideline: The role of endoscopy in acute non-variceal upper-GI hemorrhage. Gastrointest Endosc. 2004 Oct. 60 (4):497-504. [Medline].

95. Pennazio M, Keuchel M, Jensen DM, Dulai GS. Arteriovenous diseases. Keuchel M, Hagenmueller F, Tajiri H, eds. Video Capsule Endoscopy: A Reference Guide and Atlas. Berlin: Springer-Verlag; 2014. 193-204.

96. Ingrosso M, Sabbà C, Pisani A, Principi M, Gallitelli M, Cirulli A, et al. Evidence of small-bowel involvement in hereditary hemorrhagic telangiectasia: a capsule-endoscopic study. Endoscopy. 2004 Dec. 36 (12):1074-9. [Medline].

97. Grève E, Moussata D, Gaudin JL, Lapalus MG, Giraud S, Dupuis-Girod S, 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 Apr. 71 (4):760-7. [Medline].

98. Ramchandani M, Reddy DN, Gupta R, Lakhtakia S, Tandan M, Darisetty S, et al. Spiral enteroscopy: a preliminary experience in Asian population. J Gastroenterol Hepatol. 2010 Nov. 25 (11):1754-7. [Medline].

99. Jacobson BS. Hereditary hemorrhagic telangiectasia: A model for blood vessel growth and enlargement. Am J Pathol. 2000 Mar. 156 (3):737-42. [Medline]. [Full Text].

100. Robin ED, Laman D, Horn BR, Theodore J. Platypnea related to orthodeoxia caused by true vascular lung shunts. N Engl J Med. 1976 Apr 22. 294 (17):941-3. [Medline].

101. Harries PG, Brockbank MJ, Shakespeare PG, Carruth JA. Treatment of hereditary haemorrhagic telangiectasia by the pulsed dye laser. J Laryngol Otol. 1997 Nov. 111 (11):1038-41. [Medline].

102. Harrison DF. Use of estrogen in treatment of familial hemorrhagic telangiectasia. Laryngoscope. 1982 Mar. 92 (3):314-20. [Medline].

103. Dallas NA, Samuel S, Xia L, Fan F, Gray MJ, Lim SJ, et al. Endoglin (CD105): a marker of tumor vasculature and potential target for therapy. Clin Cancer Res. 2008 Apr 1. 14 (7):1931-7. [Medline].

104. Robert F, Desroches-Castan A, Bailly S, Dupuis-Girod S, Feige JJ. Future treatments for hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2020 Jan 7. 15 (1):4. [Medline].

105. [Guideline] Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, et al. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. Ann Intern Med. 2020 Sep 8. [Medline]. [Full Text].

106. Shah RK, Dhingra JK, Shapshay SM. Hereditary hemorrhagic telangiectasia: a review of 76 cases. Laryngoscope. 2002 May. 112 (5):767-73. [Medline].

107. Yaniv E, Preis M, Hadar T, Shvero J, Haddad M. Antiestrogen therapy for hereditary hemorrhagic telangiectasia: a double-blind placebo-controlled clinical trial. Laryngoscope. 2009 Feb. 119 (2):284-8. [Medline].

108. Isaacs E. Aminocaproic Acid. Pediatric Drug Dosage Handbook. 8th ed. Ottawa, Canada: Winnipeg Health Sciences Center and CSHP; 1998. 161.

109. Lebrin F, Srun S, Raymond K, Martin S, van den Brink S, Freitas C, et al. Thalidomide stimulates vessel maturation and reduces epistaxis in individuals with hereditary hemorrhagic telangiectasia. Nat Med. 2010 Apr. 16 (4):420-8. [Medline].

110. Harvey RJ, Kanagalingam J, Lund VJ. The impact of septodermoplasty and potassium-titanyl-phosphate (KTP) laser therapy in the treatment of hereditary hemorrhagic telangiectasia-related epistaxis. Am J Rhinol. 2008 Mar-Apr. 22 (2):182-7. [Medline].

111. Lesnik GT, Ross DA, Henderson KJ, Joe JK, Leder SB, White RI Jr. Septectomy and septal dermoplasty for the treatment of severe transfusion-dependent epistaxis in patients with hereditary hemorrhagic telangiectasia and septal perforation. Am J Rhinol. 2007 May-Jun. 21 (3):312-5. [Medline].

112. Layton KF, Kallmes DF, Gray LA, Cloft HJ. Endovascular treatment of epistaxis in patients with hereditary hemorrhagic telangiectasia. AJNR Am J Neuroradiol. 2007 May. 28 (5):885-8. [Medline].

113. de Gussem EM, Snijder RJ, Disch FJ, Zanen P, Westermann CJ, Mager JJ. The effect of N-acetylcysteine on epistaxis and quality of life in patients with HHT: a pilot study. Rhinology. 2009 Mar. 47 (1):85-8. [Medline].

114. Bose P, Holter JL, Selby GB. Bevacizumab in hereditary hemorrhagic telangiectasia. N Engl J Med. 2009 May 14. 360 (20):2143-4. [Medline].

115. Massoud OI, Youssef WI, Mullen KD. Resolution of hereditary hemorrhagic telangiectasia and anemia with prolonged alpha-interferon therapy for chronic hepatitis C. J Clin Gastroenterol. 2004 Apr. 38 (4):377-9. [Medline].

116. Wheatley-Price P, Shovlin C, Chao D. Interferon for metastatic renal cell cancer causing regression of hereditary hemorrhagic telangiectasia. J Clin Gastroenterol. 2005 Apr. 39 (4):344-5. [Medline].

117. Lupu A, Stefanescu C, Treton X, Attar A, Corcos O, Bouhnik Y. Bevacizumab as rescue treatment for severe recurrent gastrointestinal bleeding in hereditary hemorrhagic telangiectasia. J Clin Gastroenterol. 2013 Mar. 47 (3):256-7. [Medline].

118. Shovlin CL, Jackson JE, Bamford KB, Jenkins IH, Benjamin AR, Ramadan H, et al. Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Thorax. 2008 Mar. 63 (3):259-66. [Medline].

119. Shovlin CL, Winstock AR, Peters AM, Jackson JE, Hughes JM. Medical complications of pregnancy in hereditary haemorrhagic telangiectasia. QJM. 1995 Dec. 88 (12):879-87. [Medline].

120. Buscarini E, Plauchu H, Garcia Tsao G, White RI Jr, Sabbà C, Miller F, et al. Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations. Liver Int. 2006 Nov. 26 (9):1040-6. [Medline].

121. Lerut J, Orlando G, Adam R, Sabbà C, Pfitzmann R, Klempnauer J, et al. Liver transplantation for hereditary hemorrhagic telangiectasia: Report of the European liver transplant registry. Ann Surg. 2006 Dec. 244 (6):854-62; discussion 862-4. [Medline]. [Full Text].

122. Thevenot T, Vanlemmens C, Di Martino V, Becker MC, Denue PO, Kantelip B, et al. Liver transplantation for cardiac failure in patients with hereditary hemorrhagic telangiectasia. Liver Transpl. 2005 Jul. 11 (7):834-8. [Medline].

123. Mitchell A, Adams LA, MacQuillan G, Tibballs J, vanden Driesen R, Delriviere L. Bevacizumab reverses need for liver transplantation in hereditary hemorrhagic telangiectasia. Liver Transpl. 2008 Feb. 14 (2):210-3. [Medline].

124. Curie A, Lesca G, Cottin V, Edery P, Bellon G, Faughnan ME, et al. Long-term follow-up in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary hemorrhagic telangiectasia in all cases. J Pediatr. 2007 Sep. 151 (3):299-306. [Medline].

Klaus-Dieter Lessnau, MD, FCCP Former Clinical Associate Professor of Medicine, New York University School of Medicine; Medical Director, Pulmonary Physiology Laboratory, Director of Research in Pulmonary Medicine, Department of Medicine, Section of Pulmonary Medicine, Lenox Hill Hospital

Klaus-Dieter Lessnau, MD, FCCP is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, American Medical Association, American Thoracic Society, Society of Critical Care Medicine

Disclosure: Nothing to disclose.

Jesus Lanza, MD Fellow in Pulmonary and Critical Care Medicine, Department of Medicine, Section of Pulmonary Medicine, Lenox Hill Hospital

Disclosure: Nothing to disclose.

Raghukumar D Thirumala, MD, MPH Fellow in Pulmonary Medicine, Lenox Hill Hospital, North Shore-Long Island Jewish Health System

Raghukumar D Thirumala, MD, MPH is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, American Medical Association, American Thoracic Society, Society of Critical Care Medicine, Society of Hospital Medicine

Disclosure: Nothing to disclose.

Dora E Izaguirre Anariba, MD, MPH  Physician, Department of Medicine, Wyckoff Heights Medical Center

Dora E Izaguirre Anariba, MD, MPH is a member of the following medical societies: American College of Physicians, American Heart Association, American Medical Association, American Public Health Association, Colegio Medico de Honduras

Disclosure: Nothing to disclose.

Vincent Lopez Rowe, MD Professor of Surgery, Program Director, Integrated Vascular Surgery Residency and Fellowship, Department of Surgery, Division of Vascular Surgery and Endovascular Therapy, Keck School of Medicine of the University of Southern California

Vincent Lopez Rowe, MD is a member of the following medical societies: American College of Surgeons, American Surgical Association, Pacific Coast Surgical Association, Society for Clinical Vascular Surgery, Society for Vascular Surgery, Western Vascular Society

Disclosure: Nothing to disclose.

Geromanta Baleviciene, MD, Head and Professor, Department of Dermatology, Vilnius University, Medical Faculty, Lithuania

Disclosure: Nothing to disclose.

David F Butler, MD Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Richard J Cervin, MD, Consulting Staff, Department of Dermatology, Baltic-American Medical and Surgical Clinic, Lithuania

Disclosure: Nothing to disclose.

Max J Coppes, MD, PhD, MBA President, BC Cancer Agency, Vancouver

Max J Coppes, MD, PhD, MBA, is a member of the following medical societies: Alberta Medical Association, American College of Healthcare Executives, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Mark A Crowe, MD Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine

Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society

Disclosure: Nothing to disclose.

Dirk M Elston, MD Director, Department of Dermatology, Geisinger Medical Center

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

James L Harper, MD Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Assistant Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center

James L Harper, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Federation for Clinical Research, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Council on Medical Student Education in Pediatrics, and Hemophilia and Thrombosis Research Society

Disclosure: Nothing to disclose.

James F McKinsey, MD Associate Professor of Clinical Surgery, Columbia University College of Physicians and Surgeons; Site Chief, Department of Surgery, Division of Vascular Surgery, Columbia University Medical Center

James F McKinsey, MD is a member of the following medical societies: Alpha Omega Alpha and Association for Academic Surgery

Disclosure: Nothing to disclose.

Christen M Mowad, MD Associate Professor, Department of Dermatology, Geisinger Medical Center

Christen M Mowad, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Arun Panigrahi, MD Fellow in Pediatric Hematology-Oncology, University of Chicago, The Pritzker School of Medicine

Arun Panigrahi, MD is a member of the following medical societies: American Academy of Pediatrics and American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

William H Pearce, MD Chief, Division of Vascular Surgery, Violet and Charles Baldwin Professor of Vascular Surgery, Department of Surgery, Northwestern University School of Medicine

William H Pearce, MD is a member of the following medical societies: American College of Surgeons, American Heart Association, American Surgical Association, Association for Academic Surgery, Association of VA Surgeons, Central Surgical Association, New York Academy of Sciences, Society for Vascular Surgery, Society of Critical Care Medicine, Society of University Surgeons, and Western Surgical Association

Disclosure: Nothing to disclose.

James Petros, MD Associate Professor of Surgery, Program Director, Surgical Residency Program, Department of Surgery, Boston University School of Medicine

James Petros, MD is a member of the following medical societies: American Medical Association, American Society of Colon and Rectal Surgeons, Massachusetts Medical Society, and Society of Surgical Oncology

Disclosure: Nothing to disclose.

Sharada A Sarnaik, MBBS Professor of Pediatrics, Wayne State University School of Medicine; Director, Sickle Cell Center, Attending Hematologist/Oncologist, Children's Hospital of Michigan

Sharada A Sarnaik, MBBS is a member of the following medical societies: American Association of Blood Banks, American Association of University Professors, American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Norman A Silver, MD Assistant Professor, Department of Emergency Medicine, University of Manitoba, Winnipeg, Canada

Norman A Silver is a member of the following medical societies: American Academy of Pediatrics and Canadian Medical Association

Disclosure: Nothing to disclose.

Perry A Soriano, MD, FACS Staff Surgical Oncologist, Division of General Surgery, The Everett Clinic

Perry A Soriano, MD, FACS is a member of the following medical societies: American College of Surgeons, Massachusetts Medical Society, Pancreas Club, and Society of Surgical Oncology

Disclosure: Nothing to disclose.

Kent Stobart, MD, MSc, FRCPC Department of Pediatrics, Associate Professor, Stollery Children's Hospital

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Reference Salary Employment

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Lawrence C Wolfe, MD Associate Chief for Hematology and Safety, Division of Pediatric Hematology-Oncology, Cohen Children's Medical Center

Lawrence C Wolfe, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Association of Blood Banks, American Society of Hematology, Children's Oncology Group, and Eastern Society for Pediatric Research

Disclosure: Nothing to disclose.

Acknowledgments

The authors acknowledge valuable personal communication with Dr Robert I White Jr, medical director of Yale AVM and HHT Center, deemed an HHT Center of Excellence by the HHT Foundation International.

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