[HTML][HTML] Pulmonary arterial hypertension and hereditary haemorrhagic telangiectasia
VMM Vorselaars, AE Hosman… - International Journal of …, 2018 - mdpi.com
VMM Vorselaars, AE Hosman, CJJ Westermann, RJ Snijder, JJ Mager, MJ Goumans…
International Journal of Molecular Sciences, 2018•mdpi.comHereditary 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 …
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 …
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.
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