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Dentistry485 papers

Hereditary hemorrhagic telangiectasia of gingiva

Last edited: 4/23/2026

Overview

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by abnormal blood vessel formation, leading to mucocutaneous telangiectasias, recurrent epistaxis, and arteriovenous malformations (AVMs) in multiple organs including the lungs, brain, and liver. 12345678910111213141516171819202122232425262728293031323334353637383940414243444546474849505152535455565758596061626364656667686970

Diagnosis

  • Clinical Criteria: Presence of mucocutaneous telangiectasias and recurrent epistaxis, plus either a first-degree relative with HHT or a visceral arteriovenous malformation. 12283959
  • Genetic Testing: Mutations in ACVRL1 or ENG genes confirm diagnosis. 44859
  • Imaging: Chest CT angiography for pulmonary AVMs, cerebral MRI/MRA for cerebral AVMs, and echocardiography for right-to-left shunts. 25612192435404459
  • Endoscopy: Nasal endoscopy for assessing telangiectasias and epistaxis severity. 120226065

    • Management

  • First-Line Treatments:
    • - Local Therapies: Sclerotherapy and laser therapy for epistaxis and oral telangiectasias. 1117495464 - Medications: Bevacizumab for severe bleeding episodes; dose varies but often administered intravenously. 8226066
  • Adjunctive Treatments:
    • - Pazopanib: For managing epistaxis and gastrointestinal bleeding. 18 - Thalidomide: For reducing epistaxis severity and improving quality of life. 71 - Sclerotherapy vs Cautery/Laser: Comparative studies suggest efficacy in managing epistaxis, though specific superiority varies. 49

    Special Populations

  • Pregnancy: Requires careful monitoring for complications; outcomes can vary widely. 2742
  • Pediatrics: Transarterial embolization for pulmonary AVMs shows favorable long-term outcomes. 3
  • Comorbidities: Management of high-output cardiac failure in patients with hepatic vascular malformations may require systemic bevacizumab with individualized maintenance therapy. 6667

    • Key Recommendations

  • Genetic Testing and Counseling: Essential for confirming diagnosis and assessing familial risk. (Evidence: Strong 459)
  • Regular Imaging Screening: Include chest CT angiography, cerebral MRI/MRA, and echocardiography to monitor for AVMs and complications. (Evidence: Moderate 25612192435404459)
  • Local Therapies for Epistaxis: Sclerotherapy and laser therapy are effective first-line treatments for managing epistaxis and oral telangiectasias. (Evidence: Moderate 1117495464)
  • Bevacizumab for Severe Bleeding: Consider intravenous bevacizumab for severe bleeding episodes, with individualized maintenance protocols. (Evidence: Moderate 8226066)
  • Multidisciplinary Care: Essential for comprehensive management, especially in complex cases involving multiple organ systems. (Evidence: Expert opinion 1959)

    • References

    Showing 100 most recent of 413 indexed papers.

    1 Soudry E, Amitai N, Elmograbi A, Vainer I, Mei-Zahav M. Novel Simplified Nasal Endoscopy Grading System for Hereditary Hemorrhagic Telangiectasia Patients. The Laryngoscope 2026. link 2 Saadeh Z, Demirel N, Horst KK, Iyer VN, Koo CW, Larson NB et al.. Reduced-Dose Chest CTA for the Detection of Pulmonary Arteriovenous Malformations in Pediatric Patients With Hereditary Hemorrhagic Telangiectasia. Journal of computer assisted tomography 2026. link 3 Páez-Carpio A, Lim AYL, Gasparetto A, Shaw M, Ratjen F, Amaral JG. Long-Term Outcomes of Transarterial Embolization for Pulmonary Arteriovenous Malformations in Pediatric Hereditary Hemorrhagic Telangiectasia. Cardiovascular and interventional radiology 2026. link 4 Darre Haahr P, Hao Q, Brusgaard K, Larsen MJ, Lange B, Fialla AD et al.. Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia. European journal of human genetics : EJHG 2026. link 5 Lai M, Chiu LW, Kallianos KG, Hetts SW, Gossage J, Conrad MB. Telangiectatic Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia. Radiology 2026. link 6 Kofoed MS, Tørring PM, Christensen AA, Lange B, Haahr PD, Markovic L et al.. Cerebral vascular malformation screening in hereditary hemorrhagic telangiectasia: Balancing low diagnostic yield against high-risk hemorrhage. Clinical neurology and neurosurgery 2026. link 7 Al-Samkari H, Kasthuri RS, Iyer VN, Pishko AM, Decker JE, Weiss CR et al.. Validation and clinical application of the hereditary hemorrhagic telangiectasia-specific quality of life scale. Journal of thrombosis and haemostasis : JTH 2026. link 8 Haahr PD, Kjeldsen AD, Fialla AD, Fargeton AE, Guilhem A, Buscarini E et al.. Availability, use, efficacy and safety of bevacizumab in European hereditary haemorrhagic telangiectasia centres. British journal of clinical pharmacology 2026. link 9 Bagrodia A, Vaithiyam V, Sonika U, Goyal S, Srivastava S, Sachdeva S. Extrahepatic portal vein obstruction associated with juvenile polyposis-hereditary haemorrhagic telangiectasia overlap syndrome. Clinical journal of gastroenterology 2026. link 10 Zhang E, Kasthuri RS, Parambil J, Prasad V, Iyer VN, Whitehead KJ et al.. Pomalidomide for hereditary hemorrhagic telangiectasia: after trial longitudinal assessment study (PATH-HHT ATLAS). Blood advances 2026. link 11 Adelman AE, Joshi A, Gallo K, Prosser A, Mathavan A, Mathavan A et al.. Role of Sclerotherapy in Treating Oral Vascular Malformations in Hereditary Hemorrhagic Telangiectasia. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2026. link 12 Izhar M, Al Gharyani MF, Hori YS, Kattaa AH, Lam FC, Kalra N et al.. Treatment outcomes of cerebral arteriovenous malformations in patients with Hereditary hemorrhagic Telangiectasia: A case series from a Single-Center experience. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2026. link 13 Sturiale CL, Cocilovo F, Trevisi G, Palermo M, Cordisco EL, Di Martino L et al.. Genotype-phenotype correlations and protein domain-level predictors of cerebrovascular malformations in hereditary hemorrhagic telangiectasia. Journal of neurology 2026. link 14 Lin Y, Hashemi Z, Zhang Q, Di Y, Behera T, Gahn J et al.. Flow-induced Klf4-Akt signaling links EC cycling to mural cell defects in arterial-venous malformations. Theranostics 2026. link 15 Miki T, Ishikura T, Fujita N, Nakano T, Kimura H, Sumi-Akamaru H et al.. Hereditary Hemorrhagic Telangiectasia with Recurrent Epistaxis, Telangiectasia, Hepatic Arteriovenous Malformation, and a Poorly Developed Middle Cerebral Artery in a Patient with a Novel Mutation in the ACVRL1 Gene. Internal medicine (Tokyo, Japan) 2025. link 16 Yang Y, Wu X, Zhao Y, Zhang D, Zhang L, Cai X et al.. Arterial-Lymphatic-Like Endothelial Cells Appear in Hereditary Hemorrhagic Telangiectasia 2 and Contribute to Vascular Leakage and Arteriovenous Malformations. Circulation 2025. link 17 Ji J, Peterson AM, Piccirillo JF. Treatment of hereditary hemorrhagic telangiectasias with sclerotherapy: A case series. American journal of otolaryngology 2025. link 18 Lewandowska MD, Gordon S, Betbadal A, Shapiro AD. Pazopanib in treatment of hereditary hemorrhagic telangiectasia-related epistaxis and gastrointestinal bleeding. Journal of thrombosis and haemostasis : JTH 2025. link 19 Cerrone A, Buscarini E, Berté R, Alicante S, Bertolazzi S, Moreschi O et al.. Hereditary Hemorrhagic Telangiectasia: On the Brink of a New Treatment Era?. Seminars in thrombosis and hemostasis 2025. link 20 Bickerton R, Kennard B, Mehtani N, Bullock E, Ross T, Acharya V et al.. Is there still a role for nasal closure in hereditary haemorrhagic telangiectasia?. The Journal of laryngology and otology 2025. link 21 Iijima A, Nakayama M, Kawahata T, Saito M, Kikuchi T, Kihara A et al.. Pulmonary Arteriovenous Malformations Requiring Surgical Resection Due to the Migration of Two Coils into a Single Lesion with Mycobacterium avium Complex Infection after Coil Embolization. Internal medicine (Tokyo, Japan) 2025. link 22 Vincent L, Robard L, Creveuil C, Babin E, Perreard M, Humbert M. Treatment of epistaxis in Osler-Weber-Rendu disease by bevacizumab nasal spray. The EROSB study: Determining the effective dose. European annals of otorhinolaryngology, head and neck diseases 2025. link 23 Yadav A, Liang R, Press K, Schmidt A, Shabani Z, Leng K et al.. Evaluation of AAV Capsids and Delivery Approaches for Hereditary Hemorrhagic Telangiectasia Gene Therapy. Translational stroke research 2025. link 24 Villanueva B, Sánchez-Corral MÁ, Alba E, Ordi Q, Ruiz Y, Torres-Iglesias R et al.. Long-term follow-up of hereditary hemorrhagic telangiectasia patients without significant pulmonary right-to-left shunt at screening. European journal of internal medicine 2025. link 25 Benaim EH, Kallenberger EM, Mirmozaffari Y, Klatt-Cromwell C, Ebert CS, Kimple AJ et al.. Surgical Management of Moderate to Severe Epistaxis in Hereditary Hemorrhagic Telangiectasia: Systematic Review and Meta-Analysis. American journal of rhinology & allergy 2025. link 26 Spooner K, Pilley M, Marshall G, Uddin J, Mair M. Use of a nasal obturator of computer-aided design in managing hereditary hemorrhagic telangiectasia. The Journal of prosthetic dentistry 2025. link 27 Watkins VY, Estin ML, Craig AM, Dotters-Katz SK, Federspiel JJ. Hereditary Hemorrhagic Telangiectasia: Pregnancy and Delivery-Specific Considerations and Outcomes. American journal of perinatology 2025. link 28 Selvadurai Y, Le Fevre ER, Mervis J, Fitzgerald DA. Hereditary haemorrhagic telangiectasia: A primer for the paediatrician. Paediatric respiratory reviews 2025. link 29 Cubiró X, Garcia-Melendo C, Morales-Munera CE, Riera-Mestre A, Torres-Iglesias R, Villanueva B et al.. Comparative Treatment of Mucocutaneous Lesions in Hereditary Haemorrhagic Telangiectasia Patients With Dual Sequential Pulsed Dye Laser and Neodymium: Yttrium-Aluminium-Garnet Versus Neodymium: Yttrium-Aluminium-Garnet Laser Alone: A Double-Blind Randomized Controlled Study With Quality-of-Life Evaluation. Actas dermo-sifiliograficas 2024. link 30 Otsuka E, Kitamura M, Sawase K, Nakamura M, Inoue H, Yamaguchi K et al.. Hereditary Hemorrhagic Telangiectasia in a Patient Undergoing Hemodialysis with Anticoagulants and Antiplatelets. Internal medicine (Tokyo, Japan) 2024. link 31 Hayama M, Maeda Y, Obata S, Tsuda T, Takeda K, Nishida T et al.. Understanding hereditary hemorrhagic telangiectasia: From genetic anomalies to systemic manifestations, quality of life, and epistaxis management-Exploring the otolaryngologist's integral role. Auris, nasus, larynx 2024. link 32 Genet G, Genet N, Paila U, Cain SR, Cwiek A, Chavkin NW et al.. Induced Endothelial Cell Cycle Arrest Prevents Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia. Circulation 2024. link 33 Arndt G, Wai R, Stiel H. Subcutaneous Tranexamic Acid at the End of Life in a Patient With Hereditary Hemorrhagic Telangiectasia. Journal of palliative medicine 2024. link 34 Kofoed MS, Tørring PM, Christensen AA, Lange B, Kjeldsen AD, Nielsen TH. High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia. European journal of neurology 2024. link 35 Szmygin M, Szmygin P, Drelich K, Pustelniak O, Pech M, Jargiełło T. The role of interventional radiology in treatment of patients with hereditary hemorrhagic telangiectasia. European journal of radiology 2023. link 36 Sakuma M, Inagaki T, Arakawa R, Kato N, Okafuji T. Hereditary Hemorrhagic Telangiectasia Presenting with Asymptomatic Liver Lesions and a History of Early-onset Myocardial Infarction and Multiple Intracranial Aneurysms. Internal medicine (Tokyo, Japan) 2023. link 37 Schmid CD, Olsavszky V, Reinhart M, Weyer V, Trogisch FA, Sticht C et al.. ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver. Hepatology (Baltimore, Md.) 2023. link 38 Choi H, Kim BG, Kim YH, Lee SJ, Lee YJ, Oh SP. BMP10 functions independently from BMP9 for the development of a proper arteriovenous network. Angiogenesis 2023. link 39 Hessels J, Kroon S, Vorselaars VVM, Boerman S, Mager JJ, Post MC. Evolution of Pulmonary Arteriovenous Malformations: The Role of Contrast Echocardiography. Chest 2023. link 40 Agarwal J, LaBranche J, Dhillon S, Allison WT, Jeerakathil T, Vethanayagam D. Neurologic Complications in Hereditary Hemorrhagic Telangiectasia with Pulmonary Arteriovenous Malformations: A Systematic Review. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2023. link 41 Yusuf H, Rasheed A, Kim H, Conrad MB, Hetts SW. Identifying racial disparities in hereditary hemorrhagic telangiectasia. Journal of neurointerventional surgery 2023. link 42 Delagrange L, Dupuis O, Fargeton AE, Bernard L, Decullier E, Dupuis-Girod S. Obstetrical and neonatal complications in hereditary haemorrhagic telangiectasia: A retrospective study. BJOG : an international journal of obstetrics and gynaecology 2023. link 43 Jelsig AM, Kjeldsen A, Christensen LL, Bertelsen B, Karstensen JG, Brusgaard K et al.. Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in . Journal of medical genetics 2023. link 44 Azma R, Dmytriw AA, Biswas A, Pollak M, Ratjen F, Amirabadi A et al.. Neurovascular Manifestations in Pediatric Patients With Hereditary Haemorrhagic Telangiectasia. Pediatric neurology 2022. link 45 Pepe M, Suppressa P, Giuliano AF, Nestola PL, Bortone AS, DE Cillis E et al.. Safety of reduced or absent antithrombotic therapy after left atrial appendage closure in patients affected by hereditary hemorrhagic telangiectasia and atrial fibrillation. Minerva cardiology and angiology 2022. link 46 Devara J, Iyer VN, Warad DM, Brinjikji W, Aljobeh A, Lanzino G et al.. Acute thrombosis of a giant perimedullary arteriovenous fistula in a pediatric HHT patient. Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences 2022. link 47 Hayama M, Maeda Y, Shikina T, Tatehara S, Inokuchi G, Hoag JB et al.. Validation of epistaxis severity score for hereditary hemorrhagic telangiectasia in Japan. Auris, nasus, larynx 2022. link 48 Balachandar S, Graves TJ, Shimonty A, Kerr K, Kilner J, Xiao S et al.. Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations. American journal of medical genetics. Part A 2022. link 49 Woodard TD, Yappel-Sinkko KB, Wang X, McCrae KR, Parambil JG. Sclerotherapy Versus Cautery/Laser Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia. The Laryngoscope 2022. link 50 Lam S, Guthrie KS, Latif MA, Weiss CR. Genetic counseling and testing for hereditary hemorrhagic telangiectasia. Clinical genetics 2022. link 51 Lantz KE, Armstrong SQ, Butt F, Wang ML, Hardman R, Czum JM. Arteriovenous Malformations in the Setting of Osler-Weber-Rendu: What the Radiologist Needs to Know. Current problems in diagnostic radiology 2022. link 52 Anning R, Huang J, Ronan A, de Malmanche J, Asher R, Low TH. Improvement in epistaxis management: the experience of a dedicated hereditary haemorrhagic telangiectasia clinic. ANZ journal of surgery 2022. link 53 Murray E, Taylor J, Hountras P. A Case of High-Output Heart Failure. Chest 2022. link 54 Wu V, Kell E, Faughnan ME, Lee JM. In-Office KTP Laser for Treating Hereditary Hemorrhagic Telangiectasia-Associated Epistaxis. The Laryngoscope 2021. link 55 Kroon S, Snijder RJ, Hosman AE, Vorselaars VMM, Disch FJM, Post MC et al.. Oral itraconazole for epistaxis in hereditary hemorrhagic telangiectasia: a proof of concept study. Angiogenesis 2021. link 56 Bertlich M, Kashani F, Weiss BG, Wiebringhaus R, Ihler F, Freytag S et al.. Safety and Efficacy of Blue Light Laser Treatment in Hereditary Hemorrhagic Telangiectasia. Lasers in surgery and medicine 2021. link 57 Kawabata H, Hamada Y, Hattori A, Tanaka K. Hereditary Hemorrhagic Telangiectasia Induced Portosystemic Encephalopathy: A Case Report and Literature Review. Internal medicine (Tokyo, Japan) 2021. link 58 Alvarez H, Niazi MH, Loewenstein J, Quinsey CS. Neonatal bilateral cerebral high flow fistulae leading to detection of a HHT-family carrier. Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences 2021. link 59 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. Annals of internal medicine 2020. link 60 Steineger J, Geirdal AØ, Osnes T, Heimdal KR, Dheyauldeen S. Intranasal bevacizumab injections improve quality of life in HHT patients. The Laryngoscope 2020. link 61 Capasso TL, Li B, Volek HJ, Khalid W, Rochon ER, Anbalagan A et al.. BMP10-mediated ALK1 signaling is continuously required for vascular development and maintenance. Angiogenesis 2020. link 62 Major T, Csobay-Novák C, Gindele R, Szabó Z, Bora L, Jóni N et al.. Pitfalls of delaying the diagnosis of hereditary haemorrhagic telangiectasia. The Journal of international medical research 2020. link 63 Major T, Gindele R, Szabó Z, Kis Z, Bora L, Jóni N et al.. The Stratified Population Screening of Hereditary Hemorrhagic Telangiectasia. Pathology oncology research : POR 2020. link 64 Abiri A, Goshtasbi K, Maducdoc M, Sahyouni R, Wang MB, Kuan EC. Laser-Assisted Control of Epistaxis in Hereditary Hemorrhagic Telangiectasia: A Systematic Review. Lasers in surgery and medicine 2020. link 65 Andersen JH, Kjeldsen AD. Patient-recorded benefit from nasal closure in a Danish cohort of patients with hereditary haemorrhagic telangiectasia. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2020. link 66 Albitar HAH, Almodallal Y, Gallo De Moraes A, O'Brien E, Choby GW, Pruthi RK et al.. Intravenous Bevacizumab in Hereditary Hemorrhagic Telangiectasia-Related Bleeding and High-Output Cardiac Failure: Significant Inter-Individual Variability in the Need for Maintenance Therapy. Mayo Clinic proceedings 2020. link 67 Olsen LB, Kjeldsen AD, Poulsen MK, Kjeldsen J, Fialla AD. High output cardiac failure in 3 patients with hereditary hemorrhagic telangiectasia and hepatic vascular malformations, evaluation of treatment. Orphanet journal of rare diseases 2020. link 68 Okazaki T, Sakamoto S, Ishii D, Oshita J, Matsushige T, Shinagawa K et al.. A Pial Arteriovenous Fistula in Infancy as the Presenting Manifestation of Hereditary Hemorrhagic Telangiectasia. World neurosurgery 2019. link 69 Inoguchi Y, Kaku B, Kitagawa N, Katsuda S. Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm. Internal medicine (Tokyo, Japan) 2019. link 70 Riera-Mestre A, Ribas J, Castellote J. Medical management of haemorrhagic hereditary telangiectasia in adult patients. Medicina clinica 2019. link 71 Baysal M, Ümit EG, Kırkızlar HO, Özdöver 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. Turkish journal of haematology : official journal of Turkish Society of Haematology 2019. link 72 Al-Samkari H, Kritharis A, Rodriguez-Lopez JM, Kuter DJ. Systemic bevacizumab for the treatment of chronic bleeding in hereditary haemorrhagic telangiectasia. Journal of internal medicine 2019. link 73 Cannavicci A, Zhang Q, Dai SC, Faughnan ME, Kutryk MJB. Decreased levels of miR-28-5p and miR-361-3p and increased levels of insulin-like growth factor 1 mRNA in mononuclear cells from patients with hereditary hemorrhagic telangiectasia . Canadian journal of physiology and pharmacology 2019. link 74 Ulus S, Arslan A, Karaarslan E, Cakaloglu Y. De Novo Vascular Lesions After Liver Transplant in a Case With Hereditary Hemorrhagic Telangiectasia and Fibropolycystic Liver Disease: Long-Term Follow-Up With Magnetic Resonance Imaging and Magnetic Resonance Angiography. Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2019. link 75 Poisson A, Lesca G, Chatron N, Favre E, Cottin V, Gamondes D et al.. 12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome. European journal of medical genetics 2019. link 76 Faughnan ME, Gossage JR, Chakinala MM, Oh SP, Kasthuri R, Hughes CCW et al.. Pazopanib may reduce bleeding in hereditary hemorrhagic telangiectasia. Angiogenesis 2019. link 77 Al-Samkari H, Albitar HA, Olitsky SE, Clancy MS, Iyer VN. Systemic bevacizumab for high-output cardiac failure in hereditary hemorrhagic telangiectasia: an international survey of HHT centers. Orphanet journal of rare diseases 2019. link 78 Iyer VN, Saberi B, Heimbach JK, Larson JJ, Raghavaiah S, Ditah I et al.. Liver Transplantation Trends and Outcomes for Hereditary Hemorrhagic Telangiectasia in the United States. Transplantation 2019. link 79 Gonzalez CD, Mcdonald J, Stevenson DA, Whitehead KJ, Petersen MG, Presson AP et al.. Epistaxis in children and adolescents with hereditary hemorrhagic telangiectasia. The Laryngoscope 2018. link 80 Crawford M, Burns R, Cooper S, Mackay T. Hereditary haemorrhagic telangiectasia in pregnancy: regional and general anaesthesia. International journal of obstetric anesthesia 2018. link 81 Etievant J, Si-Mohamed S, Vinurel N, Dupuis-Girod S, Decullier E, Gamondes D et al.. Pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia: Correlations between computed tomography findings and cerebral complications. European radiology 2018. link 82 Mu W, Cordner ZA, Yuqi Wang K, Reed K, Robinson G, Mitchell S et al.. Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia. Genetics in medicine : official journal of the American College of Medical Genetics 2018. link 83 Tørring PM, Kjeldsen AD, Ousager LB, Brusgaard K. ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia. Molecular genetics & genomic medicine 2018. link 84 Steineger J, Merckoll E, Slåstad JM, Eriksen EF, Heimdal K, Dheyauldeen S. Osteonecrosis after intranasal injection with bevacizumab in treating hereditary hemorrhagic telangiectasia: A case report. The Laryngoscope 2018. link 85 Fernandopulle N, Mertens L, Klingel M, Manson D, Ratjen F. Echocardiography Grading for Pulmonary Arteriovenous Malformation Screening in Children with Hereditary Hemorrhagic Telangiectasia. The Journal of pediatrics 2018. link 86 Zheng Y, Pollak J, Henderson K, Hendrickson JE, Tormey CA. A novel association between high red blood cell alloimmunization rates and hereditary hemorrhagic telangiectasia. Transfusion 2018. link 87 Droege F, Thangavelu K, Stuck BA, Stang A, Lang S, Geisthoff U. Life expectancy and comorbidities in patients with hereditary hemorrhagic telangiectasia. Vascular medicine (London, England) 2018. link 88 Ryan DJ, O'Connor TM, Murphy MM, Brady AP. Follow-up interval for small untreated pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Clinical radiology 2017. link 89 Palagallo GJ, McWilliams SR, Sekarski LA, Sharma A, Goyal MS, White AJ. The Prevalence of Malformations of Cortical Development in a Pediatric Hereditary Hemorrhagic Telangiectasia Population. AJNR. American journal of neuroradiology 2017. link 90 Geerts L, Fantini-Hauwel C, Brugallé E, Boute O, Frénois F, Defrance L et al.. The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative Study. Journal of genetic counseling 2017. link 91 Robard L, Michel J, Prulière Escabasse V, Bequignon E, Vérillaud B, Malard O et al.. Guidelines of the French Society of Otorhinolaryngology (SFORL) (short version). Specific treatment of epistaxis in Rendu-Osler-Weber disease. European annals of otorhinolaryngology, head and neck diseases 2017. link 92 Parzefall T, Wolf A, Frei K, Kaider A, Riss D. Epistaxis grading in Osler's disease: comparison of comprehensive scores with detailed bleeding diaries. International forum of allergy & rhinology 2017. link 93 Boatta E, Jahn C, Canuet M, Garnon J, Ramamurthy N, Cazzato RL et al.. Pulmonary Arteriovenous Malformations Embolized Using a Micro Vascular Plug System: Technical Note on a Preliminary Experience. Cardiovascular and interventional radiology 2017. link 94 Baxter M, Erby L, Roter D, Bernhardt BA, Terry P, Guttmacher A. Health screening behaviors among adults with hereditary hemorrhagic telangiectasia in North America. Genetics in medicine : official journal of the American College of Medical Genetics 2017. link 95 Pagella F, Pusateri A, Zaccari D, Bongetta D, Zoia C, Spinozzi G et al.. Fluorescein-guided intraoperative endoscopy in patients with hereditary hemorrhagic telangiectasia: first impressions. International forum of allergy & rhinology 2017. link 96 Choi JW, Joo YH, Jeong WS, Jang YJ. Free-flap reconstruction for the management of life-threatening hereditary hemorrhagic telangiectasia. Auris, nasus, larynx 2017. link 97 Duarte CW, Black AW, Lucas FL, Vary CP. Cancer incidence in patients with hereditary hemorrhagic telangiectasia. Journal of cancer research and clinical oncology 2017. link 98 Hosman AE, Shovlin CL. Cancer and hereditary haemorrhagic telangiectasia. Journal of cancer research and clinical oncology 2017. link 99 Brinjikji W, Iyer VN, Wood CP, Lanzino G. Prevalence and characteristics of brain arteriovenous malformations in hereditary hemorrhagic telangiectasia: a systematic review and meta-analysis. Journal of neurosurgery 2017. link 100 Favia G, Tempesta A, Limongelli L, Suppressa P, Sabbà C, Maiorano E. Diode laser treatment and clinical management of multiple oral lesions in patients with hereditary haemorrhagic telangiectasia. The British journal of oral & maxillofacial surgery 2016. link

    Original source

    1. [1]
      Novel Simplified Nasal Endoscopy Grading System for Hereditary Hemorrhagic Telangiectasia Patients. — Soudry E, Amitai N, Elmograbi A, Vainer I, Mei-Zahav M The Laryngoscope (2026)
    2. [2]
      Reduced-Dose Chest CTA for the Detection of Pulmonary Arteriovenous Malformations in Pediatric Patients With Hereditary Hemorrhagic Telangiectasia. — Saadeh Z, Demirel N, Horst KK, Iyer VN, Koo CW, Larson NB et al. Journal of computer assisted tomography (2026)
    3. [3]
      Long-Term Outcomes of Transarterial Embolization for Pulmonary Arteriovenous Malformations in Pediatric Hereditary Hemorrhagic Telangiectasia. — Páez-Carpio A, Lim AYL, Gasparetto A, Shaw M, Ratjen F, Amaral JG Cardiovascular and interventional radiology (2026)
    4. [4]
      Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia. — Darre Haahr P, Hao Q, Brusgaard K, Larsen MJ, Lange B, Fialla AD et al. European journal of human genetics : EJHG (2026)
    5. [5]
      Telangiectatic Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia. — Lai M, Chiu LW, Kallianos KG, Hetts SW, Gossage J, Conrad MB Radiology (2026)
    6. [6]
      Cerebral vascular malformation screening in hereditary hemorrhagic telangiectasia: Balancing low diagnostic yield against high-risk hemorrhage. — Kofoed MS, Tørring PM, Christensen AA, Lange B, Haahr PD, Markovic L et al. Clinical neurology and neurosurgery (2026)
    7. [7]
      Validation and clinical application of the hereditary hemorrhagic telangiectasia-specific quality of life scale. — Al-Samkari H, Kasthuri RS, Iyer VN, Pishko AM, Decker JE, Weiss CR et al. Journal of thrombosis and haemostasis : JTH (2026)
    8. [8]
      Availability, use, efficacy and safety of bevacizumab in European hereditary haemorrhagic telangiectasia centres. — Haahr PD, Kjeldsen AD, Fialla AD, Fargeton AE, Guilhem A, Buscarini E et al. British journal of clinical pharmacology (2026)
    9. [9]
      Extrahepatic portal vein obstruction associated with juvenile polyposis-hereditary haemorrhagic telangiectasia overlap syndrome. — Bagrodia A, Vaithiyam V, Sonika U, Goyal S, Srivastava S, Sachdeva S Clinical journal of gastroenterology (2026)
    10. [10]
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