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June 2006

Symptomatic Children With Hereditary Hemorrhagic Telangiectasia: A Pediatric Center Experience

Author Affiliations

Author Affiliations: Division of Respiratory Medicine, Department of Pediatrics (Drs Mei-Zahav and MacLusky), and Cancer Research Program (Drs Letarte and Abdalla and Ms Cymerman), The Hospital for Sick Children Toronto, Division of Respiratory Medicine, St Michael's Hospital (Dr Faughnan), Heart and Stroke Richard Lewar Center of Excellence (Dr Letarte), and Department of Immunology (Drs Letarte and Abdalla), Division of Respirology (Drs Mei-Zahav, Faughnan, and MacLusky), University of Toronto, Toronto, Ontario.

Arch Pediatr Adolesc Med. 2006;160(6):596-601. doi:10.1001/archpedi.160.6.596

Objective  To assess the clinical and genetic characteristics of symptomatic children with hereditary hemorrhagic telangiectasia (HHT).

Design  Cross-sectional study.

Setting  The HHT clinics in Toronto.

Participants  All children with symptomatic HHT treated from April 1, 1996, through December 31, 2002.

Interventions  Participants were screened for visceral arteriovenous malformations (AVMs). Molecular testing was performed in the children or their affected family members.

Main Outcome Measures  Prevalence of epistaxis, telangiectases, pulmonary and cerebral AVMs, and genetic characteristics.

Results  Fourteen children presented with manifestations of HHT. Seven had cardiorespiratory symptoms related to pulmonary AVMs. Three had neurological symptoms secondary to bleeding from spinal or cerebral AVMs. Two were referred because of skin telangiectases and 2, because of multiple episodes of epistaxis. Screening results revealed a cerebral AVM in 1 of 11 neurologically asymptomatic children. Of the children without respiratory symptoms, 1 was diagnosed as having definite and 1, suspected pulmonary AVMs. Four children with pulmonary AVMs carried an endoglin gene mutation (HHT type 1), and 1 carried an activin receptor–like kinase 1 gene mutation (HHT type 2). The 2 children with spinal AVMs belong to the same HHT type 2 family. No mutation was found in 1 child with pulmonary and 1 with cerebral AVMs.

Conclusions  Visceral AVMs and mucosal telangiectases are present in children with HHT and can lead to life-threatening events. Failure to identify a disease-associated mutation for each child suggests complex mutations or novel HHT genes.