References

Second HHT Guidelines (from online supplement)

  1. 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;19(2):140-8.
  2. Pierucci P, Lenato GM, Suppressa P, Lastella P, Triggiani V, Valerio R, et al. A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study. Orphanet J Rare Dis. 2012;7:33.
  3. Porteous ME, Burn J, Proctor SJ. Hereditary haemorrhagic telangiectasia: a clinical analysis. J Med Genet. 1992;29(8):527-30.
  4. 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;91(1):66-7.
  5. Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet. 2011;48(2):73-87.
  6. McDonald J, Wooderchak-Donahue W, VanSant Webb C, Whitehead K, Stevenson DA, Bayrak-Toydemir P. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet. 2015;6:1.
  7. Chandler J CM, McKenzie J, Boutron I, Welch V (editors). Cochrane Methods. Cochrane Database of Systematic Reviews. 2016;10.
  8. Balshem H, Helfand M, Schunemann HJ, Oxman AD, Kunz R, Brozek J, et al. GRADE guidelines: 3. Rating the quality of evidence. J Clin Epidemiol. 2011;64(4):401-6.
  9. Whitehead KJ, Sautter NB, McWilliams JP, Chakinala MM, Merlo CA, Johnson MH, et al. Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia: A Randomized Clinical Trial. JAMA. 2016;316(9):943-51.
  10. Gaillard S, Dupuis-Girod S, Boutitie F, Riviere S, Moriniere S, Hatron PY, et al. Tranexamic acid for epistaxis in hereditary hemorrhagic telangiectasia patients: a European cross-over controlled trial in a rare disease. J Thromb Haemost. 2014;12(9):1494-502.
  11. Geisthoff UW, Seyfert UT, Kubler M, Bieg B, Plinkert PK, Konig J. Treatment of epistaxis in hereditary hemorrhagic telangiectasia with tranexamic acid - a double-blind placebo-controlled cross-over phase IIIB study. Thromb Res. 2014;134(3):565-71.
  12. Boyer H, Fernandes P, Le C, Yueh B. Prospective randomized trial of sclerotherapy vs standard treatment for epistaxis due to hereditary hemorrhagic telangiectasia. Int Forum Allergy Rhinol. 2015;5(5):435-40.
  13. Boyer H, Fernandes P, Duran O, Hunter D, Goding G. Office-based sclerotherapy for recurrent epistaxis due to hereditary hemorrhagic telangiectasia: a pilot study. Int Forum Allergy Rhinol. 2011;1(4):319-23.
  14. Rotenberg B, Noyek S, Chin CJ. Radiofrequency ablation for treatment of hereditary hemorrhagic telangiectasia lesions: "How I do it". Am J Rhinol Allergy. 2015;29(3):226-7.
  15. Kuan EC, Peng KA, Thompson CF, Suh JD, Wang MB. Sinonasal quality of life outcomes following laser treatment of epistaxis related to hereditary hemorrhagic telangiectasia. Lasers Med Sci. 2017;32(3):527-31.
  16. Dupuis-Girod S, Ginon I, Saurin JC, Marion D, Guillot E, Decullier E, et al. Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output. JAMA. 2012;307(9):948-55.
  17. Thompson AB, Ross DA, Berard P, Figueroa-Bodine J, Livada N, Richer SL. Very low dose bevacizumab for the treatment of epistaxis in patients with hereditary hemorrhagic telangiectasia. Allergy Rhinol (Providence). 2014;5(2):91-5.
  18. Chavan A, Schumann-Binarsch S, Schmuck B, Oltmer F, Geisthoff U, Hoppe F, et al. Emerging role of bevacizumab in management of patients with symptomatic hepatic involvement in Hereditary Hemorrhagic Telangiectasia. Am J Hematol. 2017;92(11):E641-E4.
  19. Iyer VN, Apala DR, Pannu BS, Kotecha A, Brinjikji W, Leise MD, et al. Intravenous Bevacizumab for Refractory Hereditary Hemorrhagic Telangiectasia-Related Epistaxis and Gastrointestinal Bleeding. Mayo Clin Proc. 2018;93(2):155-66.
  20. Epperla N, Kapke JT, Karafin M, Friedman KD, Foy P. Effect of systemic bevacizumab in severe hereditary hemorrhagic telangiectasia associated with bleeding. Am J Hematol. 2016;91(6):E313-4.
  21. Al-Samkari H, Kritharis A, Rodriguez-Lopez JM, Kuter DJ. Systemic bevacizumab for the treatment of chronic bleeding in hereditary haemorrhagic telangiectasia. J Intern Med. 2019;285(2):223-31.
  22. Rosenberg T, Fialla AD, Kjeldsen J, Kjeldsen AD. Does severe bleeding in HHT patients respond to intravenous bevacizumab? Review of the literature and case series. Rhinology. 2019;57(4):242-51.
  23. Guilhem A, Fargeton AE, Simon AC, Duffau P, Harle JR, Lavigne C, et al. Intra-venous bevacizumab in hereditary hemorrhagic telangiectasia (HHT): A retrospective study of 46 patients. PLoS One. 2017;12(11):e0188943.
  24. Levine CG, Ross DA, Henderson KJ, Leder SB, White RI, Jr. Long-term complications of septal dermoplasty in patients with hereditary hemorrhagic telangiectasia. Otolaryngol Head Neck Surg. 2008;138(6):721-4.
  25. 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;21(3):312-5.
  26. Richer SL, Geisthoff UW, Livada N, Ward PD, Johnson L, Mainka A, et al. The Young's procedure for severe epistaxis from hereditary hemorrhagic telangiectasia. Am J Rhinol Allergy. 2012;26(5):401-4.
  27. Ulso C, Vase P, Stoksted P. Long-term results of dermatoplasty in the treatment of hereditary haemorrhagic telangiectasia. J Laryngol Otol. 1983;97(3):223-6.
  28. Lund VJ, Darby Y, Rimmer J, Amin M, Husain S. Nasal closure for severe hereditary haemorrhagic telangiectasia in 100 patients. The Lund modification of the Young's procedure: a 22-year experience. Rhinology. 2017;55(2):135-41.
  29. Rimmer J, Lund VJ. A modified technique for septodermoplasty in hereditary hemorrhagic telangiectasia. Laryngoscope. 2014;124(1):67-9.
  30. van Tuyl SA, Letteboer TG, Rogge-Wolf C, Kuipers EJ, Snijder RJ, Westermann CJ, et al. Assessment of intestinal vascular malformations in patients with hereditary hemorrhagic teleangiectasia and anemia. Eur J Gastroenterol Hepatol. 2007;19(2):153-8.
  31. Canzonieri C, Centenara L, Ornati F, Pagella F, Matti E, Alvisi C, et al. Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. Genet Med. 2014;16(1):3-10.
  32. Ingrosso M, Sabba 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;36(12):1074-9.
  33. Greve 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;71(4):760-7.
  34. Nam SJ, Lee HS, Lim YJ. Evaluation of Gastric Disease with Capsule Endoscopy. Clin Endosc. 2018;51(4):323-8.
  35. Kjeldsen AD, Vase P, Green A. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med. 1999;245(1):31-9.
  36. Kasthuri RS, Montifar M, Nelson J, Kim H, Lawton MT, Faughnan ME, et al. Prevalence and predictors of anemia in hereditary hemorrhagic telangiectasia. Am J Hematol. 2017.
  37. Pasculli G, Resta F, Guastamacchia E, Di Gennaro L, Suppressa P, Sabba C. Health-related quality of life in a rare disease: hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease. Qual Life Res. 2004;13(10):1715-23.
  38. Geisthoff UW, Heckmann K, D'Amelio R, Grunewald S, Knobber D, Falkai P, et al. Health-related quality of life in hereditary hemorrhagic telangiectasia. Otolaryngol Head Neck Surg. 2007;136(5):726-33; discussion 34-5.
  39. Donaldson JW, McKeever TM, Hall IP, Hubbard RB, Fogarty AW. Complications and mortality in hereditary hemorrhagic telangiectasia: A population-based study. Neurology. 2015;84(18):1886-93.
  40. Iyer VN, Brinjikji W, Apala D, Pannu BS, Kotecha A, Leise MD, et al. Impact of Age on Outcomes in Hospitalized Patients with Hereditary Hemorrhagic Telangiectasia. Adv Hematol. 2018;2018:4798425.
  41. Brinjikji W, Wood CP, Lanzino G, Cloft HJ, Misra S, Kallmes DF, et al. High Rates of Bleeding Complications among Hospitalized Patients with Hereditary Hemorrhagic Telangiectasia in the United States. Ann Am Thorac Soc. 2016;13(9):1505-11.
  42. Becq A, Rahmi G, Perrod G, Cellier C. Hemorrhagic angiodysplasia of the digestive tract: pathogenesis, diagnosis, and management. Gastrointest Endosc. 2017;86(5):792-806.
  43. Kwan V, Bourke MJ, Williams SJ, Gillespie PE, Murray MA, Kaffes AJ, et al. Argon plasma coagulation in the management of symptomatic gastrointestinal vascular lesions: experience in 100 consecutive patients with long-term follow-up. Am J Gastroenterol. 2006;101(1):58-63.
  44. Zaffar N, Ravichakaravarthy T, Faughnan ME, Shehata N. The use of anti-fibrinolytic agents in patients with HHT: a retrospective survey. Ann Hematol. 2015;94(1):145-52.
  45. Faughnan ME, Gossage JR, Chakinala MM, Oh SP, Kasthuri R, Hughes CCW, et al. Pazopanib may reduce bleeding in hereditary hemorrhagic telangiectasia. Angiogenesis. 2018.
  46. Shovlin CL, Awan I, Cahilog Z, Abdulla FN, Guttmacher AE. Reported cardiac phenotypes in hereditary hemorrhagic telangiectasia emphasize burdens from arrhythmias, anemia and its treatments, but suggest reduced rates of myocardial infarction. Int J Cardiol. 2016;215:179-85.
  47. Chaturvedi SS, N., Clancy, M.S., Kasthuri, R.S. Presentation and outcomes of venous thromboembolism in adults with HHT. Thromb Res. 2018 Sep;169:41-43. doi: 10.1016/j.thromres.2018.07.004. Epub 2018 Jul 4.
  48. Hallberg L, Ryttinger L, Solvell L. Side-effects of oral iron therapy. A double-blind study of different iron compounds in tablet form. Acta Med Scand Suppl. 1966;459:3-10.
  49. Finnamore H, Le Couteur J, Hickson M, Busbridge M, Whelan K, Shovlin CL. Hemorrhage-adjusted iron requirements, hematinics and hepcidin define hereditary hemorrhagic telangiectasia as a model of hemorrhagic iron deficiency. PLoS One. 2013;8(10):e76516.
  50. Peyrin-Biroulet L, Williet N, Cacoub P. Guidelines on the diagnosis and treatment of iron deficiency across indications: a systematic review. Am J Clin Nutr. 2015;102(6):1585-94.
  51. Moretti D, Goede JS, Zeder C, Jiskra M, Chatzinakou V, Tjalsma H, et al. Oral iron supplements increase hepcidin and decrease iron absorption from daily or twice-daily doses in iron-depleted young women. Blood. 2015;126(17):1981-9.
  52. Stoffel NU, Cercamondi CI, Brittenham G, Zeder C, Geurts-Moespot AJ, Swinkels DW, et al. Iron absorption from oral iron supplements given on consecutive versus alternate days and as single morning doses versus twice-daily split dosing in iron-depleted women: two open-label, randomised controlled trials. Lancet Haematol. 2017;4(11):e524-e33.
  53. DeLoughery TG. Safety of Oral and Intravenous Iron. Acta Haematol. 2019;142(1):8-12.
  54. Ganzoni AM. [Intravenous iron-dextran: therapeutic and experimental possibilities]. Schweiz Med Wochenschr. 1970;100(7):301-3.
  55. Thielemans L, Layton DM, Shovlin CL. Low serum haptoglobin and blood films suggest intravascular hemolysis contributes to severe anemia in hereditary hemorrhagic telangiectasia. Haematologica. 2019;104(4):e127-e30.
  56. Edwards CP, Shehata N, Faughnan ME. Hereditary hemorrhagic telangiectasia patients can tolerate anticoagulation. Ann Hematol. 2012;91(12):1959-68.
  57. Devlin HL, Hosman AE, Shovlin CL. Antiplatelet and anticoagulant agents in hereditary hemorrhagic telangiectasia. N Engl J Med. 2013;368(9):876-8.
  58. Shovlin CL, Millar CM, Droege F, Kjeldsen A, Manfredi G, Suppressa P, et al. Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2019;14(1):210.
  59. Vorselaars VM, Velthuis S, Swaans MJ, Mager JJ, Snijder RJ, Rensing BJ, et al. Percutaneous left atrial appendage closure-An alternative strategy for anticoagulation in atrial fibrillation and hereditary hemorrhagic telangiectasia? Cardiovasc Diagn Ther. 2015;5(1):49-53.
  60. European Association for the Study of the Liver. Electronic address eee. EASL Clinical Practice Guidelines: Vascular diseases of the liver. J Hepatol. 2016;64(1):179-202.
  61. Buscarini E, Danesino C, Olivieri C, Lupinacci G, De Grazia F, Reduzzi L, et al. Doppler ultrasonographic grading of hepatic vascular malformations in hereditary hemorrhagic telangiectasia -- results of extensive screening. Ultraschall Med. 2004;25(5):348-55.
  62. Caselitz M, Bahr MJ, Bleck JS, Chavan A, Manns MP, Wagner S, et al. Sonographic criteria for the diagnosis of hepatic involvement in hereditary hemorrhagic telangiectasia (HHT). Hepatology. 2003;37(5):1139-46.
  63. Schelker RC, Barreiros AP, Hart C, Herr W, Jung EM. Macro- and microcirculation patterns of intrahepatic blood flow changes in patients with hereditary hemorrhagic telangiectasia. World J Gastroenterol. 2017;23(3):486-95.
  64. Buonamico P, Suppressa P, Lenato GM, Pasculli G, D'Ovidio F, Memeo M, et al. Liver involvement in a large cohort of patients with hereditary hemorrhagic telangiectasia: echo-color-Doppler vs multislice computed tomography study. J Hepatol. 2008;48(5):811-20.
  65. Buscarini E, Gebel M, Ocran K, Manfredi G, Del Vecchio Blanco G, Stefanov R, et al. Interobserver agreement in diagnosing liver involvement in hereditary hemorrhagic telangiectasia by Doppler ultrasound. Ultrasound Med Biol. 2008;34(5):718-25.
  66. 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;187(4):W399-405.
  67. Scardapane A, Stabile Ianora A, Sabba C, Moschetta M, Suppressa P, Castorani L, et al. Dynamic 4D MR angiography versus multislice CT angiography in the evaluation of vascular hepatic involvement in hereditary haemorrhagic telangiectasia. Radiol Med. 2012;117(1):29-45.
  68. 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;32(8-9):677-85.
  69. Buscarini E, Leandro G, Conte D, Danesino C, Daina E, Manfredi G, et al. Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia. Dig Dis Sci. 2011;56(7):2166-78.
  70. Singh S, Swanson KL, Hathcock MA, Kremers WK, Pallanch JF, Krowka MJ, et al. Identifying the presence of clinically significant hepatic involvement in hereditary haemorrhagic telangiectasia using a simple clinical scoring index. J Hepatol. 2014;61(1):124-31.
  71. Buscarini E, Buscarini L, Danesino C, Piantanida M, Civardi G, Quaretti P, et al. Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: Doppler sonographic screening in a large family. J Hepatol. 1997;26(1):111-8.
  72. Young LH, Henderson, K., Pollak, J.S., White, R.I. Jr, Ciarleglio, M.M., Deng, y., Garcia-Tsao, G. Predictors of death in patients with HHT, liver vascular malformations and smptomatic heart failure. Hematology Reports. 2013;5:6.
  73. Buscarini E, Botella LM, Geisthoff U, Kjeldsen AD, Mager HJ, Pagella F, et al. Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2019;14(1):28.
  74. Lerut J, Orlando G, Adam R, Sabba C, Pfitzmann R, Klempnauer J, et al. Liver transplantation for hereditary hemorrhagic telangiectasia: Report of the European liver transplant registry. Ann Surg. 2006;244(6):854-62; discussion 62-4.
  75. Dupuis-Girod S, Chesnais AL, Ginon I, Dumortier J, Saurin JC, Finet G, et al. Long-term outcome of patients with hereditary hemorrhagic telangiectasia and severe hepatic involvement after orthotopic liver transplantation: a single-center study. Liver Transpl. 2010;16(3):340-7.
  76. Dumortier J, Dupuis-Girod S, Valette PJ, Valent A, Guillaud O, Saurin JC, et al. Recurrence of Hereditary Hemorrhagic Telangiectasia After Liver Transplantation: Clinical Implications and Physiopathological Insights. Hepatology. 2019;69(5):2232-40.
  77. Cymerman U, Vera S, Pece-Barbara N, Bourdeau A, White RI, Jr., Dunn J, et al. Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. Pediatr Res. 2000;47(1):24-35.
  78. Giordano P, Nigro A, Lenato GM, Guanti G, Suppressa P, Lastella P, et al. Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician. J Thromb Haemost. 2006;4(6):1237-45.
  79. Bossler AD, Richards J, George C, Godmilow L, Ganguly A. Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. Hum Mutat. 2006;27(7):667-75.
  80. Al-Saleh S, Mei-Zahav M, Faughnan ME, MacLusky IB, Carpenter S, Letarte M, et al. Screening for pulmonary and cerebral arteriovenous malformations in children with hereditary haemorrhagic telangiectasia. Eur Respir J. 2009;34(4):875-81.
  81. 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;151(3):299-306.
  82. Giordano P, Lenato GM, Suppressa P, Lastella P, Dicuonzo F, Chiumarulo L, et al. Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. J Pediatr. 2013;163(1):179-86 e1-3.
  83. Gefen AM, White AJ. Asymptomatic pulmonary arteriovenous malformations in children with hereditary hemorrhagic telangiectasia. Pediatr Pulmonol. 2017;52(9):1194-7.
  84. Latino GA, Al-Saleh S, Alharbi N, Edwards C, Faughnan ME, Ratjen F. Prevalence of pulmonary arteriovenous malformations in children versus adults with hereditary hemorrhagic telangiectasia. J Pediatr. 2013;163(1):282-4.
  85. Faughnan ME, Thabet A, Mei-Zahav M, Colombo M, Maclusky I, Hyland RH, et al. Pulmonary arteriovenous malformations in children: outcomes of transcatheter embolotherapy. J Pediatr. 2004;145(6):826-31.
  86. 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;160(6):1039-43 e1.
  87. Karam C, Sellier J, Mansencal N, Fagnou C, Blivet S, Chinet T, et al. Reliability of contrast echocardiography to rule out pulmonary arteriovenous malformations and avoid CT irradiation in pediatric patients with hereditary hemorrhagic telangiectasia. Echocardiography. 2015;32(1):42-8.
  88. Fernandopulle N, Mertens L, Klingel M, Manson D, Ratjen F. Echocardiography Grading for Pulmonary Arteriovenous Malformation Screening in Children with Hereditary Hemorrhagic Telangiectasia. J Pediatr. 2018;195:288-91 e1.
  89. 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(4):324-8.
  90. Hosman AE, de Gussem EM, Balemans WAF, Gauthier A, Westermann CJJ, Snijder RJ, et al. Screening children for pulmonary arteriovenous malformations: Evaluation of 18 years of experience. Pediatr Pulmonol. 2017;52(9):1206-11.
  91. Ratjen A, Au J, Carpenter S, John P, Ratjen F. Growth of Pulmonary Arteriovenous Malformations in Pediatric Patients with Hereditary Hemorrhagic Telangiectasia. J Pediatr. 2019;208:279-81.
  92. Krings T, Ozanne A, Chng SM, Alvarez H, Rodesch G, Lasjaunias PL. Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age. Review of 50 consecutive patients aged 1 day-60 years. Neuroradiology. 2005;47(10):711-20.
  93. Morgan T, McDonald J, Anderson C, Ismail M, Miller F, Mao R, et al. Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). Pediatrics. 2002;109(1):E12.
  94. Saleh M, Carter MT, Latino GA, Dirks P, Ratjen F. Brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: clinical presentation and anatomical distribution. Pediatr Neurol. 2013;49(6):445-50.
  95. Hetts SW, Keenan K, Fullerton HJ, Young WL, English JD, Gupta N, et al. Pediatric intracranial nongalenic pial arteriovenous fistulas: clinical features, angioarchitecture, and outcomes. AJNR Am J Neuroradiol. 2012;33(9):1710-9.
  96. Mori H, Aoki S, Okubo T, Hayashi N, Masumoto T, Yoshikawa T, et al. Two-dimensional thick-slice MR digital subtraction angiography in the assessment of small to medium-size intracranial arteriovenous malformations. Neuroradiology. 2003;45(1):27-33.
  97. Mukherji SK, Quisling RG, Kubilis PS, Finn JP, Friedman WA. Intracranial arteriovenous malformations: quantitative analysis of magnitude contrast MR angiography versus gradient-echo MR imaging versus conventional angiography. Radiology. 1995;196(1):187-93.
  98. Gauvrit JY, Oppenheim C, Nataf F, Naggara O, Trystram D, Munier T, et al. Three-dimensional dynamic magnetic resonance angiography for the evaluation of radiosurgically treated cerebral arteriovenous malformations. Eur Radiol. 2006;16(3):583-91.
  99. 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;47(12):946-54.
  100. Meybodi AT, Kim H, Nelson J, Hetts SW, Krings T, terBrugge KG, et al. Surgical Treatment vs Nonsurgical Treatment for Brain Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia: A Retrospective Multicenter Consortium Study. Neurosurgery. 2018;82(1):35-47.
  101. Hetts SW, Cooke DL, Nelson J, Gupta N, Fullerton H, Amans MR, et al. Influence of patient age on angioarchitecture of brain arteriovenous malformations. AJNR Am J Neuroradiol. 2014;35(7):1376-80.
  102. Guo Y, Saunders T, Su H, Kim H, Akkoc D, Saloner DA, et al. Silent intralesional microhemorrhage as a risk factor for brain arteriovenous malformation rupture. Stroke. 2012;43(5):1240-6.
  103. 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;115(9):1108-15.
  104. Shovlin CL, Winstock AR, Peters AM, Jackson JE, Hughes JM. Medical complications of pregnancy in hereditary haemorrhagic telangiectasia. QJM. 1995;88(12):879-87.
  105. Ference BA, Shannon TM, White RI, Jr., Zawin M, Burdge CM. Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. Chest. 1994;106(5):1387-90.
  106. 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;119(2):470-7.
  107. de Gussem EM, Lausman AY, Beder AJ, Edwards CP, Blanker MH, Terbrugge KG, et al. Outcomes of pregnancy in women with hereditary hemorrhagic telangiectasia. Obstet Gynecol. 2014;123(3):514-20.
  108. Hanks JE, Hunter D, Goding GS, Jr., Boyer HC. Complications from office sclerotherapy for epistaxis due to hereditary hemorrhagic telangiectasia (HHT or Osler-Weber-Rendu). Int Forum Allergy Rhinol. 2014;4(5):422-7.
  109. Dupuis-Girod S, Ambrun A, Decullier E, Fargeton AE, Roux A, Breant V, et al. Effect of Bevacizumab Nasal Spray on Epistaxis Duration in Hereditary Hemorrhagic Telangectasia: A Randomized Clinical Trial. JAMA. 2016;316(9):934-42.
  110. Riss D, Burian M, Wolf A, Kranebitter V, Kaider A, Arnoldner C. Intranasal submucosal bevacizumab for epistaxis in hereditary hemorrhagic telangiectasia: a double-blind, randomized, placebo-controlled trial. Head Neck. 2015;37(6):783-7.
  111. Peng HL, Yi YF, Zhou SK, Xie SS, Zhang GS. Thalidomide Effects in Patients with Hereditary Hemorrhagic Telangiectasia During Therapeutic Treatment and in Fli-EGFP Transgenic Zebrafish Model. Chin Med J (Engl). 2015;128(22):3050-4.
  112. 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;16(4):420-8.
  113. Fang J, Chen X, Zhu B, Ye H, Zhang W, Guan J, et al. Thalidomide for Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia: A Preliminary Study. Otolaryngol Head Neck Surg. 2017;157(2):217-21.
  114. Invernizzi R, Quaglia F, Klersy C, Pagella F, Ornati F, Chu F, et al. Efficacy and safety of thalidomide for the treatment of severe recurrent epistaxis in hereditary haemorrhagic telangiectasia: results of a non-randomised, single-centre, phase 2 study. Lancet Haematol. 2015;2(11):e465-73.
  115. Hosman A, Westermann CJ, Snijder R, Disch F, Mummery CL, Mager JJ. Follow-up of Thalidomide treatment in patients with Hereditary Haemorrhagic Telangiectasia. Rhinology. 2015;53(4):340-4.
  116. Baysal M, Umit EG, Kirkizlar HO, Ozdover AC, Demir AM. Thalidomide for the Management of Bleeding Episodes in Patients with Hereditary Hemorrhagic Telangiectasia: Effects on Epistaxis Severity Score and Quality of Life. Turk J Haematol. 2019;36(1):43-7.
  117. Sabba C, Pasculli G, Lenato GM, Suppressa P, Lastella P, Memeo M, et al. Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers. J Thromb Haemost. 2007;5(6):1149-57.
  118. Kjeldsen AD, Kjeldsen J. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am J Gastroenterol. 2000;95(2):415-8.
  119. 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(6):516-20.
  120. Lesca G, Olivieri C, Burnichon N, Pagella F, Carette MF, Gilbert-Dussardier B, et al. Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. Genet Med. 2007;9(1):14-22.
  121. Chetcuti Zammit S, Sanders DS, McAlindon ME, Sidhu R. The Impact of Small Bowel Endoscopy in Patients with Hereditary Hemorrhagic Telangiectasia. Turk J Haematol. 2018;35(4):300-1.
  122. 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(1):59-65.
  123. Van Cutsem E. Georges Brohee Prize. Oestrogen-progesterone, a new therapy of bleeding gastrointestinal vascular malformations. Acta Gastroenterol Belg. 1993;56(1):2-10.
  124. Haq AU, Glass J, Netchvolodoff CV, Bowen LM. Hereditary hemorrhagic telangiectasia and danazol. Ann Intern Med. 1988;109(2):171.
  125. 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;119(2):284-8.
  126. Wang XY, Chen Y, Du Q. Successful treatment of thalidomide for recurrent bleeding due to gastric angiodysplasia in hereditary hemorrhagic telangiectasia. Eur Rev Med Pharmacol Sci. 2013;17(8):1114-6.
  127. Albiñana V, Recio-Poveda, L., Zarrabeitia, R., Botella, L.M. Current and emerging pharmacotherapies for hereditary hemorrhagic telangiectasia. Expert Opinion on Orphan Drugs. . 2017;Volume 5(8):665-75.
  128. Ruiz-Llorente L, Gallardo-Vara E, Rossi E, Smadja DM, Botella LM, Bernabeu C. Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia. Expert Opin Ther Targets. 2017;21(10):933-47.
  129. Zacharski LR, Dunbar SD, Newsom WA, Jr. Hemostatic effects of tamoxifen in hereditary hemorrhagic telangiectasia. Thromb Haemost. 2001;85(2):371-2.
  130. 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;363(9412):852-9.
  131. Aretz S, Stienen D, Uhlhaas S, Stolte M, Entius MM, Loff S, et al. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 2007;44(11):702-9.
  132. Gallione C, Aylsworth AS, Beis J, Berk T, Bernhardt B, Clark RD, et al. Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am J Med Genet A. 2010;152A(2):333-9.
  133. Schwenter F, Faughnan ME, Gradinger AB, Berk T, Gryfe R, Pollett A, et al. Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation. J Gastroenterol. 2012;47(7):795-804.
  134. Heald B, Rigelsky C, Moran R, LaGuardia L, O'Malley M, Burke CA, et al. Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4. Am J Med Genet A. 2015;167A(8):1758-62.
  135. Plauchu H, de Chadarevian JP, Bideau A, Robert JM. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet. 1989;32(3):291-7.
  136. Kettaneh A, Eclache V, Fain O, Sontag C, Uzan M, Carbillon L, et al. Pica and food craving in patients with iron-deficiency anemia: a case-control study in France. Am J Med. 2005;118(2):185-8.
  137. Lopez A, Cacoub P, Macdougall IC, Peyrin-Biroulet L. Iron deficiency anaemia. Lancet. 2016;387(10021):907-16.
  138. Vaucher P, Druais PL, Waldvogel S, Favrat B. Effect of iron supplementation on fatigue in nonanemic menstruating women with low ferritin: a randomized controlled trial. CMAJ. 2012;184(11):1247-54.
  139. Trost LB, Bergfeld WF, Calogeras E. The diagnosis and treatment of iron deficiency and its potential relationship to hair loss. J Am Acad Dermatol. 2006;54(5):824-44.
  140. Haas JD, Brownlie Tt. Iron deficiency and reduced work capacity: a critical review of the research to determine a causal relationship. J Nutr. 2001;131(2S-2):676S-88S; discussion 88S-90S.
  141. Guyatt GH, Oxman AD, Ali M, Willan A, McIlroy W, Patterson C. Laboratory diagnosis of iron-deficiency anemia: an overview. J Gen Intern Med. 1992;7(2):145-53.
  142. Mast AE, Blinder MA, Gronowski AM, Chumley C, Scott MG. Clinical utility of the soluble transferrin receptor and comparison with serum ferritin in several populations. Clin Chem. 1998;44(1):45-51.
  143. Finnamore HE, Whelan K, Hickson M, Shovlin CL. Top dietary iron sources in the UK. Br J Gen Pract. 2014;64(621):172-3.
  144. Nelson M, Poulter J. Impact of tea drinking on iron status in the UK: a review. J Hum Nutr Diet. 2004;17(1):43-54.
  145. Shovlin CL, Gilson C, Busbridge M, Patel D, Shi C, Dina R, et al. Can Iron Treatments Aggravate Epistaxis in Some Patients With Hereditary Hemorrhagic Telangiectasia? Laryngoscope. 2016;126(11):2468-74.
  146. Shovlin CL, Patel T, Jackson JE. Embolisation of PAVMs reported to improve nosebleeds by a subgroup of patients with hereditary haemorrhagic telangiectasia. ERJ Open Res. 2016;2(2).
  147. Laman CA, Silverstein SB, Rodgers GM. Parenteral iron therapy: a single institution's experience over a 5-year period. J Natl Compr Canc Netw. 2005;3(6):791-5.
  148. Livesey JA, Manning RA, Meek JH, Jackson JE, Kulinskaya E, Laffan MA, et al. Low serum iron levels are associated with elevated plasma levels of coagulation factor VIII and pulmonary emboli/deep venous thromboses in replicate cohorts of patients with hereditary haemorrhagic telangiectasia. Thorax. 2012;67(4):328-33.
  149. 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;98(5):1031-9.
  150. Shovlin CL. Circulatory contributors to the phenotype in hereditary hemorrhagic telangiectasia. Front Genet. 2015;6:101.
  151. Adkinson NF, Strauss WE, Macdougall IC, Bernard KE, Auerbach M, Kaper RF, et al. Comparative safety of intravenous ferumoxytol versus ferric carboxymaltose in iron deficiency anemia: A randomized trial. Am J Hematol. 2018;93(5):683-90.
  152. Wolf M, Chertow GM, Macdougall IC, Kaper R, Krop J, Strauss W. Randomized trial of intravenous iron-induced hypophosphatemia. JCI Insight. 2018;3(23).
  153. Vasanawala SS, Nguyen KL, Hope MD, Bridges MD, Hope TA, Reeder SB, et al. Safety and technique of ferumoxytol administration for MRI. Magn Reson Med. 2016;75(5):2107-11.
  154. Rostoker G, Cohen Y. Magnetic resonance imaging repercussions of intravenous iron products used for iron-deficiency anemia and dialysis-associated anemia. J Comput Assist Tomogr. 2014;38(6):843-4.
  155. Memeo M, Stabile Ianora AA, Scardapane A, Buonamico P, Sabba C, Angelelli G. Hepatic involvement in hereditary hemorrhagic telangiectasia: CT findings. Abdom Imaging. 2004;29(2):211-20.
  156. Letteboer TG, Mager JJ, Snijder RJ, Koeleman BP, Lindhout D, Ploos van Amstel JK, et al. Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia. J Med Genet. 2006;43(4):371-7.
  157. 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;343(13):931-6.
  158. Wanless IR, Gryfe A. Nodular transformation of the liver in hereditary hemorrhagic telangiectasia. Arch Pathol Lab Med. 1986;110(4):331-5.
  159. Buscarini E, Danesino C, Plauchu H, de Fazio C, Olivieri C, Brambilla G, et al. High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia. Ultrasound Med Biol. 2004;30(9):1089-97.
  160. Blewitt RW, Brown CM, Wyatt JI. The pathology of acute hepatic disintegration in hereditary haemorrhagic telangiectasia. Histopathology. 2003;42(3):265-9.
  161. Dominguez IB, Annet L, Waignein F, Sempoux C, Geubel A. Extensive ischemic liver necrosis complicating hereditary hemorrhagic telangiectasia: a rare indication for liver transplantation. Liver Int. 2005;25(3):677-9.
  162. Ginon I, Decullier E, Finet G, Cordier JF, Marion D, Saurin JC, et al. Hereditary hemorrhagic telangiectasia, liver vascular malformations and cardiac consequences. Eur J Intern Med. 2013;24(3):e35-9.
  163. Cavel A, Bleuzen A, Bertrand P, Patat F, Cottier JP. Comparison between Doppler ultrasonography and multiphase multidetector-row computed tomography in the detection of liver involvement in Rendu-Osler disease: An analysis of 62 patients. Diagn Interv Imaging. 2016;97(4):451-9.
  164. Vorselaars VM, Velthuis S, Snijder RJ, Vos JA, Mager JJ, Post MC. Pulmonary hypertension in hereditary haemorrhagic telangiectasia. World J Cardiol. 2015;7(5):230-7.
  165. Gincul R, Lesca G, Gelas-Dore B, Rollin N, Barthelet M, Dupuis-Girod S, et al. Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences. Hepatology. 2008;48(5):1570-6.
  166. 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;345(5):325-34.
  167. Chavan A, Luthe L, Gebel M, Barg-Hock H, Seifert H, Raab R, et al. Complications and clinical outcome of hepatic artery embolisation in patients with hereditary haemorrhagic telangiectasia. Eur Radiol. 2013;23(4):951-7.
  168. Pahl KS, Choudhury A, Wusik K, Hammill A, White A, Henderson K, et al. Applicability of the Curacao Criteria for the Diagnosis of Hereditary Hemorrhagic Telangiectasia in the Pediatric Population. J Pediatr. 2018;197:207-13.
  169. Inarejos Clemente EJ, Ratjen F, Manson DE. Utility of MDCT MIP Postprocessing Reconstruction Images in Children With Hereditary Hemorrhagic Telangiectasia. J Comput Assist Tomogr. 2016;40(3):375-9.
  170. Krings T, Kim H, Power S, Nelson J, Faughnan ME, Young WL, et al. Neurovascular manifestations in hereditary hemorrhagic telangiectasia: imaging features and genotype-phenotype correlations. AJNR Am J Neuroradiol. 2015;36(5):863-70.
  171. Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, et al. Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. Am J Med Genet A. 2006;140(5):463-70.
  172. Kjeldsen AD, Moller TR, Brusgaard K, Vase P, Andersen PE. Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia. J Intern Med. 2005;258(4):349-55.
  173. Velthuis S, Vorselaars VMM, van Gent MWF, Westermann CJJ, Snijder RJ, Mager JJ, et al. Role of transthoracic contrast echocardiography in the clinical diagnosis of hereditary hemorrhagic telangiectasia. Chest. 2013;144(6):1876-82.
  174. Matsubara S, Mandzia JL, ter Brugge K, Willinsky RA, Faughnan ME. Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia. AJNR Am J Neuroradiol. 2000;21(6):1016-20.
  175. 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;74(6):743-8.
  176. Ganesan V, Robertson F, Berg J. Neurovascular screening in hereditary haemorrhagic telangiectasia: dilemmas for the paediatric neuroscience community. Dev Med Child Neurol. 2013;55(5):405-7.
  177. Kim H, Nelson J, Krings T, terBrugge KG, McCulloch CE, Lawton MT, et al. Hemorrhage rates from brain arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia. Stroke. 2015;46(5):1362-4.
  178. Cunningham FG. Williams obstetrics. 25th edition. ed. New York: McGraw-Hill; 2018.
  179. Colletti PM, Lee KH, Elkayam U. Cardiovascular imaging of the pregnant patient. AJR Am J Roentgenol. 2013;200(3):515-21.
  180. McCollough CH, Schueler BA, Atwell TD, Braun NN, Regner DM, Brown DL, et al. Radiation exposure and pregnancy: when should we be concerned? Radiographics. 2007;27(4):909-17; discussion 17-8.
  181. Willemse RB, Mager JJ, Westermann CJ, Overtoom TT, Mauser H, Wolbers JG. Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia. J Neurosurg. 2000;92(5):779-84.
  182. Mohr JP, Overbey JR, von Kummer R, Stefani MA, Libman R, Stapf C, et al. Functional impairments for outcomes in a randomized trial of unruptured brain AVMs. Neurology. 2017;89(14):1499-506.
  183. Lasjaunias P. Cerebromedullary arteriovenous locations in children and adults with HHT. Hematology Meeting Reports. 2007;1:43.
  184. Davidoff CL, Lo Presti A, Rogers JM, Simons M, Assaad NNA, Stoodley MA, et al. Risk of First Hemorrhage of Brain Arteriovenous Malformations During Pregnancy: A Systematic Review of the Literature. Neurosurgery. 2019;85(5):E806-E14.
  185. Gross BA, Du R. Hemorrhage from arteriovenous malformations during pregnancy. Neurosurgery. 2012;71(2):349-55; discussion 55-6.
  186. Trivedi RA, Kirkpatrick PJ. Arteriovenous malformations of the cerebral circulation that rupture in pregnancy. J Obstet Gynaecol. 2003;23(5):484-9.
  187. Lomax S, Edgcombe H. Anesthetic implications for the parturient with hereditary hemorrhagic telangiectasia. Can J Anaesth. 2009;56(5):374-84.
  188. Eli I, Gamboa NT, Joyce EJ, Park MS, Taussky P, Schmidt RH, et al. Clinical presentation and treatment paradigms in patients with hereditary hemorrhagic telangiectasia and spinal vascular malformations. J Clin Neurosci. 2018;50:51-7.
  189. Brinjikji W, Nasr DM, Cloft HJ, Iyer VN, Lanzino G. Spinal arteriovenous fistulae in patients with hereditary hemorrhagic telangiectasia: A case report and systematic review of the literature. Interv Neuroradiol. 2016;22(3):354-61.