Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia

Veronique M.M. Vorselaars, Anna E. Hosman, Cornelis J.J. Westermann, Repke J. Snijder, Johannes J. Mager, Marie Jose Goumans, Marco C. Post

Research output: Contribution to journalReview articlepeer-review

Abstract

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterised by multisystemic vascular dysplasia. Heritable pulmonary arterial hypertension (HPAH) is a rare but severe complication of HHT. Both diseases can be the result of genetic mutations in ACVLR1 and ENG encoding for proteins involved in the transforming growth factor-beta (TGF-β) superfamily, a signalling pathway that is essential for angiogenesis. Changes within this pathway can lead to both the proliferative vasculopathy of HPAH and arteriovenous malformations seen in HHT. Clinical signs of the disease combination may not be specific but early diagnosis is important for appropriate treatment. This review describes the molecular mechanism and management of HPAH and HHT.

Original languageEnglish
Article number3203
JournalInternational journal of molecular sciences
Volume19
Issue number10
DOIs
Publication statusPublished - 17 Oct 2018
Externally publishedYes

Keywords

  • ACVRL1
  • ENG
  • hereditary haemorrhagic telangiectasia
  • pulmonary arterial hypertension
  • pulmonary hypertension

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