Children's genetic screening in hereditary haemorrhagic telangiectasia - Read more: http://www.atsjournals.org/doi/abs/10.1164/ajrccm-conference.2013.187.1_MeetingAbstracts.A3266

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant hereditary disorder caused by mutation in 1 of 2 genes: ENG, encoding endoglin, or ACVRL1, encoding activin receptor-like kinase 1 (ALK-1). HHT is characterized by recurrent epistaxis, mucocutaneous telangiectasia, and vascular visceral dysplasia responsible for visceral arterio-venous malformation (AVM). In France, although a consensus exists on the need of children9s screening, optimal assessment of the identified children is still a matter of debated. Here we reported our institutional experience of children9s screening for HHT in 2 university hospitals (Trousseau, Paris and CHIC, Creteil) Parents with confirmed HTT were proposed, after written consent, to screen their children for the mutation identified in their family. Children carrying the mutation of their parents underwent non injected pulmonary HRCT scan as well as non-injected cerebral and spinal MR. Between 2008 and 2014, 103 children have been genetically screened, and 64 of them were positive to ENG or ACVRL1 mutation. Among those, pulmonary-AVM was found in 17 children leading to embolization in 5 of them. Neurological-AVM was found in 5 children but none of them was treated. The present data highlight the usefulness of children genetic screening in known HHT family and suggest that a non-invasive protocol is efficient to detect non-symptomatic lesions. These results also confirm the increased number of AVM in children with ENG mutations.