The pulmonary vascular complications of hereditary haemorrhagic telangiectasia

Abstract

Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder, characterised by the presence of vascular malformations. The pulmonary vascular complications of HHT include pulmonary arteriovenous malformations, pulmonary hypertension associated with high-output heart failure and liver vascular malformations and, finally, pulmonary arterial hypertension secondary to HHT. In the present review, the authors describe the clinical presentation, diagnosis and management of all three pulmonary vascular presentations of HHT, as well as the underlying genetics and pathophysiology.

Idiopathic pulmonary arteriovenous malformations: clinical and imaging characteristics

“…As a result of this anatomical abnormality, PAVMs can be associated with a wide spectrum of clinical manifestations. These include life-threatening haemorrhage, and symptoms and complications from paradoxical embolisation, such as stroke and brain abscess [1,2].…”

Hereditary haemorrhagic telangiectasia

“…The subsequent lack of filtration allows paradoxical embolism with an increased risk of ischaemic stroke, reported in 10 -36% of untreated patients, and cerebral abscess, reported in 8-19% (44) . Right to left shunting of deoxygenated blood may cause hypoxaemia and dyspnoea, with significant effects on quality of life (40) .…”

A message on the lips

“…Pulmonologists will encounter three main manifestations of HHT: pulmonary arterial hypertension; high cardiac output failure in the setting of large AVMs in the liver; and pulmonary AVMs. A forthcoming article by FAUGHNAN et al [2], as part of the European Respiratory Journal's (ERJ) current series on pulmonary hypertension [2][3][4][5][6][7], will review the cardiopulmonary manifestations of HHT in detail.…”

“…Pulmonologists will encounter three main manifestations of HHT: pulmonary arterial hypertension; high cardiac output failure in the setting of large AVMs in the liver; and pulmonary AVMs. A forthcoming article by FAUGHNAN et al[2], as part of the European Respiratory Journal's (ERJ) current series on pulmonary hypertension [2][3][4][5][6][7], will review the cardiopulmonary manifestations of HHT in detail.Pulmonary arterial hypertension and liver AVMs are predominantly seen in patients with Alk-1 mutations (also called HHT type 2) [8]. Isolated pulmonary arterial hypertension in patients with HHT is clinically and histologically indistinguishable from idiopathic pulmonary arterial hypertension, a disease that has been linked to mutations in another TGF-b superfamily receptor, termed bone morphogenetic protein receptor-II [9].…”

“…[2], as part of the European Respiratory Journal's (ERJ) current series on pulmonary hypertension [2][3][4][5][6][7], will review the cardiopulmonary manifestations of HHT in detail.…”