OBJECTIVE: To evaluate the clinical features in a large cohort of pediatric patients with genetically confirmed hereditary hemorrhagic telangiectasia (HHT) and to identify possible predictors of arteriovenous malformation (AVM) onset or clinical significance. STUDY DESIGN: Prospective cross-sectional survey of all children subjected to screening for AVMs in the multidisciplinary HHT center. All patients proved to be carriers of endoglin mutations or activin A receptor type-II-like kinase 1 mutations, defined as HHT1 and HHT2, respectively. A full clinical-radiological protocol for AVM detection was adopted, independent from presence or absence of AVM-related symptoms. RESULTS: Forty-four children (mean age, 10.3 years; range, 1-18) were subjected to a comprehensive clinical-radiologic evaluation. This investigation disclosed cerebrovascular malformations in 7 of 44 cases, pulmonary AVMs in 20 of 44 cases, and liver AVMs in 23 of 44 cases. Large visceral AVMs were found in 12 of 44 children and were significantly more frequent in patients with HHT1. Only large AVMs were associated with symptoms and complications. CONCLUSIONS: Children with HHT have a high prevalence of AVMs; therefore, an appropriate clinical and radiological screening protocol is advisable. Large AVMs can be associated with complications in childhood, whereas small AVMs probably have no clinical risk.
OBJECTIVE: To evaluate the clinical features in a large cohort of pediatric patients with genetically confirmed hereditary hemorrhagic telangiectasia (HHT) and to identify possible predictors of arteriovenous malformation (AVM) onset or clinical significance. STUDY DESIGN: Prospective cross-sectional survey of all children subjected to screening for AVMs in the multidisciplinary HHT center. All patients proved to be carriers of endoglin mutations or activin A receptor type-II-like kinase 1 mutations, defined as HHT1 and HHT2, respectively. A full clinical-radiological protocol for AVM detection was adopted, independent from presence or absence of AVM-related symptoms. RESULTS: Forty-four children (mean age, 10.3 years; range, 1-18) were subjected to a comprehensive clinical-radiologic evaluation. This investigation disclosed cerebrovascular malformations in 7 of 44 cases, pulmonary AVMs in 20 of 44 cases, and liver AVMs in 23 of 44 cases. Large visceral AVMs were found in 12 of 44 children and were significantly more frequent in patients with HHT1. Only large AVMs were associated with symptoms and complications. CONCLUSIONS:Children with HHT have a high prevalence of AVMs; therefore, an appropriate clinical and radiological screening protocol is advisable. Large AVMs can be associated with complications in childhood, whereas small AVMs probably have no clinical risk.
Authors: Giuseppe A Latino; Dale Brown; Richard H Glazier; Jonathan T Weyman; Marie E Faughnan Journal: Orphanet J Rare Dis Date: 2014-07-25 Impact factor: 4.123
Authors: E M de Gussem; C P Edwards; A E Hosman; C J J Westermann; R J Snijder; M E Faughnan; J J Mager Journal: Orphanet J Rare Dis Date: 2016-04-22 Impact factor: 4.123
Authors: Omer F Eker; Edoardo Boccardi; Ulrich Sure; Maneesh C Patel; Saverio Alicante; Ali Alsafi; Nicola Coote; Freya Droege; Olivier Dupuis; Annette Dam Fialla; Bryony Jones; Ujwal Kariholu; Anette D Kjeldsen; David Lefroy; Gennaro M Lenato; Hans Jurgen Mager; Guido Manfredi; Troels H Nielsen; Fabio Pagella; Marco C Post; Catherine Rennie; Carlo Sabbà; Patrizia Suppressa; Pernille M Toerring; Sara Ugolini; Elisabetta Buscarini; Sophie Dupuis-Girod; Claire L Shovlin Journal: Orphanet J Rare Dis Date: 2020-06-29 Impact factor: 4.123
Authors: Alexandra Kilian; Giuseppe A Latino; Andrew J White; Dewi Clark; Murali M Chakinala; Felix Ratjen; Jamie McDonald; Kevin Whitehead; James R Gossage; Doris Lin; Katharine Henderson; Jeffrey Pollak; Justin P McWilliams; Helen Kim; Michael T Lawton; Marie E Faughnan Journal: J Clin Med Date: 2020-08-22 Impact factor: 4.241