title: Neurovascular Manifestations of Hereditary Hemorrhagic Telangiectasia: A Consecutive Series of 376 Patients during 15 Years.
abstract: Hereditary hemorrhagic telangiectasia is associated with a wide range of neurovascular abnormalities. The aim of this study was to characterize the spectrum of cerebrovascular lesions, including brain arteriovenous malformations, in patients with hereditary hemorrhagic telangiectasia and to study associations between brain arteriovenous malformations and demographic variables, genetic mutations, and the presence of AVMs in other organs.
  
  
  
  Consecutive patients with definite hereditary hemorrhagic telangiectasia who underwent brain MR imaging/MRA, CTA, or DSA at our institution from 2001 to 2015 were included. All studies were re-evaluated by 2 senior neuroradiologists for the presence, characteristics, location, and number of brain arteriovenous malformations, intracranial aneurysms, and nonshunting lesions. Brain arteriovenous malformations were categorized as high-flow pial fistulas, nidus-type brain AVMs, and capillary vascular malformations and were assigned a Spetzler-Martin score. We examined the association between baseline clinical and genetic mutational status and the presence/multiplicity of brain arteriovenous malformations.
  
  
  
  Three hundred seventy-six patients with definite hereditary hemorrhagic telangiectasia were included. One hundred ten brain arteriovenous malformations were noted in 48 patients (12.8%), with multiple brain arteriovenous malformations in 26 patients. These included 51 nidal brain arteriovenous malformations (46.4%), 58 capillary vascular malformations (52.7%), and 1 pial arteriovenous fistula (0.9%). Five patients (10.4%) with single nidal brain arteriovenous malformation presented with hemorrhage. Of brain arteriovenous malformations, 88.9% (88/99) had a Spetzler-Martin score of ≤2. Patients with brain arteriovenous malformations were more likely to be female (75.0% versus 57.6%, P = .01) and have a family history of hereditary hemorrhagic telangiectasia (95.8% versus 84.8%, P = .04). The prevalence of brain arteriovenous malformation was 19.7% in endoglin (ENG) mutations and 12.5% in activin receptor-like kinase (1ACVRL1) mutations.
  
  
  
  Our study of 376 patients with hereditary hemorrhagic telangiectasia demonstrated a high prevalence of brain arteriovenous malformations. Nidal brain arteriovenous malformations and capillary vascular malformations occurred in roughly equal numbers.
authors.affiliation: From the Departments of Radiology (W.B., H.J.C., K.R.T., C.P.W.) brinjikji.waleed@mayo.edu.
authors.forename: W
authors.identifier: 0000-0001-5271-5524
authors.initials: W
authors.lastname: Brinjikji
authors.affiliation: Pulmonary and Critical Care Medicine (V.N.I., V.Y.).
authors.forename: V N
authors.identifier: 0000-0001-6441-9319
authors.initials: VN
authors.lastname: Iyer
authors.affiliation: Pulmonary and Critical Care Medicine (V.N.I., V.Y.).
authors.forename: V
authors.identifier: 0000-0003-4872-1731
authors.initials: V
authors.lastname: Yamaki
authors.affiliation: Neurosurgery (G.L.), Mayo Clinic, Rochester, Minnesota.
authors.forename: G
authors.identifier: 0000-0003-1479-465X
authors.initials: G
authors.lastname: Lanzino
authors.affiliation: From the Departments of Radiology (W.B., H.J.C., K.R.T., C.P.W.).
authors.forename: H J
authors.identifier: 0000-0003-2590-3815
authors.initials: HJ
authors.lastname: Cloft
authors.affiliation: From the Departments of Radiology (W.B., H.J.C., K.R.T., C.P.W.).
authors.forename: K R
authors.identifier: 0000-0002-7084-3156
authors.initials: KR
authors.lastname: Thielen
authors.affiliation: Department of Pulmonary and Critical Care Medicine (K.L.S.), Mayo Clinic, Scottsdale, Arizona.
authors.forename: K L
authors.identifier: 0000-0002-3710-2591
authors.initials: KL
authors.lastname: Swanson
authors.affiliation: From the Departments of Radiology (W.B., H.J.C., K.R.T., C.P.W.).
authors.forename: C P
authors.identifier: 0000-0001-5580-9622
authors.initials: CP
authors.lastname: Wood
mesh_terms: D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000453:epidemiology* / Q000209:etiology / Q000473:pathology; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology