RT Book, Section
A1 Marchuk, Douglas A.
A1 Lux, Andreas
A2 Valle, David L.
A2 Antonarakis, Stylianos
A2 Ballabio, Andrea
A2 Beaudet, Arthur L.
A2 Mitchell, Grant A.
SR Print(0)
ID 1181476432
T1 Hereditary Hemorrhagic Telangiectasia
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1181476432
RD 2024/04/20
AB Identified  over  a  century  ago,  hereditary  hemorrhagic  telangiectasia  (HHT),  or  Rendu-Osler-Weber  syndrome,  is  an  autosomal  dominant  condition  characterized  by  multisystemic  vascular  malformations  and  hemorrhage  from  the  associated  vascular  lesions.  HHT  may  have  first  been  described  by  Sutton1  and  in  turn,  Babington,2  as  a  hereditary  form  of  epistaxis.  However,  it  was  Rendu3  who  first  recognized  the  combination  of  hereditary  epistaxis  and  telangiectases  as  a  distinct  clinical  entity  from  hemophilia.  At  the  turn  of  the  nineteenth  century,  Osler4  and  Weber5  produced  case  reports  of  inherited  epistaxis  and  cutaneous  and/or  mucocutaneous  telangiectases.  Shortly  thereafter,  Hanes6  coined  the  term  hereditary  hemorrhagic  telangiectasia  using  the  three  clinical  features  that  at  that  time  defined  the  disorder.