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Hereditary Hemorrhagic Telangiectasia
Luke L. Linscott, MD; Anne G. Osborn, MD, FACR; Charles Raybaud, MD, FRCPC
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Hereditary hemorrhagic telangiectasia (HHT)
            • Synonyms

              • Rendu-Osler, Rendu-Osler-Weber, Osler-Weber-Rendu syndrome
            • Definitions

              • Autosomal dominant disorder with widely distributed, multisystem angiodysplastic lesions
                • Mucocutaneous telangiectasias and arteriovenous malformations (AVMs) in visceral organs (primarily lungs, brain, liver)

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Angiographic Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Staging, Grading, & Classification

                            • Gross Pathologic & Surgical Features

                              • Microscopic Features

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Consider

                                          • Image Interpretation Pearls

                                            Selected References

                                            1. Gamboa NT et al: Clinical presentation and treatment paradigms of brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. J Clin Neurosci. 51:22-8, 2018
                                            2. Meybodi AT et al: Surgical treatment vs nonsurgical treatment for brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: a retrospective multicenter consortium study. Neurosurgery. 82(1):35-47, 2018
                                            3. Palagallo GJ et al: The prevalence of malformations of cortical development in a pediatric hereditary hemorrhagic telangiectasia population. AJNR Am J Neuroradiol. 38(2):383-6, 2017
                                            4. Brinjikji W et al: Neurovascular manifestations of hereditary hemorrhagic telangiectasia: a consecutive series of 376 patients during 15 years. AJNR Am J Neuroradiol. 37(8):1479-86, 2016
                                            5. Labeyrie PE et al: Neurological involvement in hereditary hemorrhagic telangiectasia. J Neuroradiol. 43(4):236-45, 2016
                                            6. Kim H et al: Hemorrhage rates from brain arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia. Stroke. 46(5):1362-4, 2015
                                            7. Komiyama M et al: Neuroradiological manifestations of hereditary hemorrhagic telangiectasia in 139 Japanese patients. Neurol Med Chir (Tokyo). 55(6):479-86, 2015
                                            8. Krings T et al: Neurovascular manifestations in hereditary hemorrhagic telangiectasia: Imaging features and genotype-Phenotype Correlations. AJNR Am J Neuroradiol. ePub, 2015
                                            9. McDonald J et al: Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet. 6:1, 2015
                                            10. Shovlin CL: Circulatory contributors to the phenotype in hereditary hemorrhagic telangiectasia. Front Genet. 6:101, 2015
                                            11. Tørring PM et al: Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia. Microvasc Res. 99:118-126, 2015
                                            12. Woodall MN et al: Cerebral vascular malformations in hereditary hemorrhagic telangiectasia. J Neurosurg. 120(1):87-92, 2014
                                            13. Chen KH et al: Brain abscess as an initial presentation in a patient of hereditary haemorrhagic telangiectasia caused by a novel ENG mutation. BMJ Case Rep. 2013, 2013
                                            14. Koubaa M et al: Actinomycotic brain abscess as the first clinical manifestation of hereditary hemorrhagic telangiectasia--case report and review of the literature. Ann Hematol. 92(8):1141-3, 2013
                                            15. Saleh M et al: Brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: clinical presentation and anatomical distribution. Pediatr Neurol. 49(6):445-50, 2013
                                            16. McDonald J et al: Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med. 13(7):607-16, 2011
                                            17. Carette MF et al: Imaging of hereditary hemorrhagic telangiectasia. Cardiovasc Intervent Radiol. 32(4):745-57, 2009
                                            18. Giordano P et al: HHT in childhood: screening for special patients. Curr Pharm Des. 12(10):1221-5, 2006
                                            19. Krings T et al: Hereditary hemorrhagic telangiectasia in children: endovascular treatment of neurovascular malformations: results in 31 patients. Neuroradiology. 47(12):946-54, 2005
                                            Related Anatomy
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                                            Related Differential Diagnoses
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                                            References
                                            Tables

                                            Tables

                                            KEY FACTS

                                            • Terminology

                                              • Imaging

                                                • Pathology

                                                  • Clinical Issues

                                                    • Diagnostic Checklist

                                                      TERMINOLOGY

                                                      • Abbreviations

                                                        • Hereditary hemorrhagic telangiectasia (HHT)
                                                      • Synonyms

                                                        • Rendu-Osler, Rendu-Osler-Weber, Osler-Weber-Rendu syndrome
                                                      • Definitions

                                                        • Autosomal dominant disorder with widely distributed, multisystem angiodysplastic lesions
                                                          • Mucocutaneous telangiectasias and arteriovenous malformations (AVMs) in visceral organs (primarily lungs, brain, liver)

                                                      IMAGING

                                                      • General Features

                                                        • CT Findings

                                                          • MR Findings

                                                            • Angiographic Findings

                                                              • Imaging Recommendations

                                                                DIFFERENTIAL DIAGNOSIS

                                                                  PATHOLOGY

                                                                  • General Features

                                                                    • Staging, Grading, & Classification

                                                                      • Gross Pathologic & Surgical Features

                                                                        • Microscopic Features

                                                                          CLINICAL ISSUES

                                                                          • Presentation

                                                                            • Demographics

                                                                              • Natural History & Prognosis

                                                                                • Treatment

                                                                                  DIAGNOSTIC CHECKLIST

                                                                                  • Consider

                                                                                    • Image Interpretation Pearls

                                                                                      Selected References

                                                                                      1. Gamboa NT et al: Clinical presentation and treatment paradigms of brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. J Clin Neurosci. 51:22-8, 2018
                                                                                      2. Meybodi AT et al: Surgical treatment vs nonsurgical treatment for brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: a retrospective multicenter consortium study. Neurosurgery. 82(1):35-47, 2018
                                                                                      3. Palagallo GJ et al: The prevalence of malformations of cortical development in a pediatric hereditary hemorrhagic telangiectasia population. AJNR Am J Neuroradiol. 38(2):383-6, 2017
                                                                                      4. Brinjikji W et al: Neurovascular manifestations of hereditary hemorrhagic telangiectasia: a consecutive series of 376 patients during 15 years. AJNR Am J Neuroradiol. 37(8):1479-86, 2016
                                                                                      5. Labeyrie PE et al: Neurological involvement in hereditary hemorrhagic telangiectasia. J Neuroradiol. 43(4):236-45, 2016
                                                                                      6. Kim H et al: Hemorrhage rates from brain arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia. Stroke. 46(5):1362-4, 2015
                                                                                      7. Komiyama M et al: Neuroradiological manifestations of hereditary hemorrhagic telangiectasia in 139 Japanese patients. Neurol Med Chir (Tokyo). 55(6):479-86, 2015
                                                                                      8. Krings T et al: Neurovascular manifestations in hereditary hemorrhagic telangiectasia: Imaging features and genotype-Phenotype Correlations. AJNR Am J Neuroradiol. ePub, 2015
                                                                                      9. McDonald J et al: Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet. 6:1, 2015
                                                                                      10. Shovlin CL: Circulatory contributors to the phenotype in hereditary hemorrhagic telangiectasia. Front Genet. 6:101, 2015
                                                                                      11. Tørring PM et al: Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia. Microvasc Res. 99:118-126, 2015
                                                                                      12. Woodall MN et al: Cerebral vascular malformations in hereditary hemorrhagic telangiectasia. J Neurosurg. 120(1):87-92, 2014
                                                                                      13. Chen KH et al: Brain abscess as an initial presentation in a patient of hereditary haemorrhagic telangiectasia caused by a novel ENG mutation. BMJ Case Rep. 2013, 2013
                                                                                      14. Koubaa M et al: Actinomycotic brain abscess as the first clinical manifestation of hereditary hemorrhagic telangiectasia--case report and review of the literature. Ann Hematol. 92(8):1141-3, 2013
                                                                                      15. Saleh M et al: Brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: clinical presentation and anatomical distribution. Pediatr Neurol. 49(6):445-50, 2013
                                                                                      16. McDonald J et al: Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med. 13(7):607-16, 2011
                                                                                      17. Carette MF et al: Imaging of hereditary hemorrhagic telangiectasia. Cardiovasc Intervent Radiol. 32(4):745-57, 2009
                                                                                      18. Giordano P et al: HHT in childhood: screening for special patients. Curr Pharm Des. 12(10):1221-5, 2006
                                                                                      19. Krings T et al: Hereditary hemorrhagic telangiectasia in children: endovascular treatment of neurovascular malformations: results in 31 patients. Neuroradiology. 47(12):946-54, 2005