Hereditary Haemorrhagic Telangiectasia

  • Claire Shovlin
  • S. Paul Oh
Part of the Respiratory Medicine book series (RM)


Hereditary Haemorrhagic Telangiectasia (HHT, Osler–Weber–Rendu syndrome) exemplifies diseases which have catalysed advances in the understanding of fundamental pathophysiological mechanisms. The hallmark of HHT is the development of abnormal blood vessels, involving the lung in approximately 50% of cases. This chapter will focus on the molecular mechanisms that underlie their generation. While not all clinical problems in HHT can be directly attributed to the presence of abnormal vessels, the emergent data suggesting non-vascular sequelae of the underlying gene mutations are beyond the scope of this chapter.


Osler-Weber-Rendu haemoptysis epistaxis arteriovenous malformation endoglin angiogenesis 


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Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Claire Shovlin
    • 1
  • S. Paul Oh
    • 2
  1. 1.Department of Respiratory MedicineImperial College LondonLondonUK
  2. 2.Department of Physiology and Functional GenomicsUniversity of Florida Cancer and Genetic Research ComplexGainesvilleUSA

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