Published online May 26, 2015. doi: 10.4330/wjc.v7.i5.230
Peer-review started: October 23, 2014
First decision: November 27, 2014
Revised: December 26, 2014
Accepted: February 9, 2015
Article in press: February 11, 2015
Published online: May 26, 2015
Processing time: 210 Days and 15.8 Hours
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disorder characterised by vascular malformations in predominantly the brain, liver and lungs. Pulmonary hypertension (PH) is increasingly recognised as a severe complication of HHT. PH may be categorised into two distinct types in patients with HHT. Post-capillary PH most often results from a high pulmonary blood flow that accompanies the high cardiac output state associated with liver arteriovenous malformations. Less frequently, the HHT-related gene mutations in ENG or ACVRL1 appear to predispose patients with HHT to develop pre-capillary pulmonary arterial hypertension. Differentiation between both forms of PH by right heart catheterisation is essential, since both entities are associated with severe morbidity and mortality with different treatment options. Therefore all HHT patients should be referred to an HHT centre.
Core tip: Pulmonary hypertension (PH) is increasingly recognised as a severe complication of hereditary haemorrhagic telangiectasia (HHT), but the true prevalence of PH in HHT is not known. Post-capillary PH most often results from the high cardiac output associated with hepatic arteriovenous malformations. More rarely the HHT gene mutations (ACRVL1 or ENG) result in pre-capillary pulmonary arterial hypertension (PAH). Differentiation between post-capillary PH en pre-capillary PAH can be done by right heart catheterisation, and is of importance since both entities are associated with severe morbidity and mortality and have different options for treatments.