{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T00:23:44Z","timestamp":1769387024892,"version":"3.49.0"},"reference-count":29,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,7,7]],"date-time":"2014-07-07T00:00:00Z","timestamp":1404691200000},"content-version":"vor","delay-in-days":6,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Internal Medicine Journal"],"published-print":{"date-parts":[[2014,7]]},"abstract":"Abstract<\/jats:title>Aim<\/jats:title>The present study aims to describe the phenotypic features of patients with hereditary haemorrhagic telangiectasia (HHT<\/jats:styled-content>) seen at R<\/jats:styled-content>oyal M<\/jats:styled-content>elbourne H<\/jats:styled-content>ospital, V<\/jats:styled-content>ictoria, A<\/jats:styled-content>ustralia, and to customise a protocol for surveillance of patients with HHT<\/jats:styled-content>.<\/jats:p><\/jats:sec>Methods<\/jats:title>This is a retrospective study in a tertiary referral hospital of all patients referred to the C<\/jats:styled-content>linical G<\/jats:styled-content>enetics S<\/jats:styled-content>ervice between 2007 and 2011 with a suspected diagnosis of HHT<\/jats:styled-content>. Data abstracted from patient clinical records were analysed for clinical features, types of HHT<\/jats:styled-content> and genetic testing results where available.<\/jats:p><\/jats:sec>Results<\/jats:title>Our cohort comprising 40 females and 23 males patients was assessed using the C<\/jats:styled-content>uracao criteria. Twenty\u2010two patients fulfilled the criteria for a definite diagnosis, 30 had a possible diagnosis, and 11 patients were assessed as unlikely to have HHT<\/jats:styled-content> at the time of data analysis. Seventeen patients had pulmonary arteriovenous malformations (AVM<\/jats:styled-content>), five had cerebral AVM<\/jats:styled-content>, five had hepatic AVM<\/jats:styled-content>, three had confirmed bowel telangiectasia, and one patient had a pancreatic AVM<\/jats:styled-content>. Two female patients with HHT<\/jats:styled-content> had complicated pregnancies during their follow up with us. Three families had mutations in the endoglin (ENG<\/jats:italic><\/jats:styled-content> gene), three had mutations in the ACVRL<\/jats:italic><\/jats:styled-content>1<\/jats:italic> gene, and two families had mutations in the SMAD<\/jats:italic><\/jats:styled-content>4<\/jats:italic> gene.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>HHT<\/jats:styled-content> is a multisystemic disorder and needs involvement of a team with experience in managing patients with HHT<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/imj.12457","type":"journal-article","created":{"date-parts":[[2014,4,22]],"date-time":"2014-04-22T11:10:53Z","timestamp":1398165053000},"page":"639-644","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Hereditary haemorrhagic telangiectasia, an A<\/scp>ustralian cohort: clinical and investigative features"],"prefix":"10.1111","volume":"44","author":[{"given":"M.","family":"Salaria","sequence":"first","affiliation":[{"name":"Department of Genetics Royal Melbourne Hospital University of Melbourne Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Taylor","sequence":"additional","affiliation":[{"name":"Department of Genetics Royal Melbourne Hospital University of Melbourne Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Bogwitz","sequence":"additional","affiliation":[{"name":"Department of Genetics Royal Melbourne Hospital University of Melbourne Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Winship","sequence":"additional","affiliation":[{"name":"Department of Genetics Royal Melbourne Hospital University of Melbourne Melbourne Victoria Australia"},{"name":"Department of Medicine MDHS RMH University of Melbourne Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,7,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.035451"},{"key":"e_1_2_7_3_1","volume-title":"Gene Reviews","author":"McDonald J","year":"2012"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/hci148"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000132689.25644.7C"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.028712"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31802d8373"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2007.02531.x"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.20818"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1752-1947-4-20"},{"key":"e_1_2_7_11_1","first-page":"785","article-title":"Hereditary hemorrhagic telangiectasia: diagnosis and management","volume":"82","author":"Olitsky SE","year":"2010","journal-title":"Am Fam Physician"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1160\/TH09-07-0425"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjoto.2011.07.012"},{"key":"e_1_2_7_14_1","unstructured":"Potash AES.KTP laser of intra\u2010nasal telangiectasias (HHT) (with or without Avastin injection).2012. 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