{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T15:34:41Z","timestamp":1777563281042,"version":"3.51.4"},"reference-count":24,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,7,31]],"date-time":"2025-07-31T00:00:00Z","timestamp":1753920000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,7,31]],"date-time":"2025-07-31T00:00:00Z","timestamp":1753920000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Ear Nose Throat J"],"abstract":"<jats:sec>\n                    <jats:title>Purpose:<\/jats:title>\n                    <jats:p>Hereditary hemorrhagic telangiectasia (HHT) is under-recognized, and specialized referral centers are limited, specifically in Belgium. The primary aim of this study was to describe the clinical characteristics of our patients with HHT, in particular the prevalence of vascular malformations (VMs). Secondary objective was to describe associations between patient\u2019s current work-up and anemia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We performed a retrospective analysis of 118 patients treated at our center between 2015 and 2024. We analyzed documented VM and correlation with genetic work-up, prevalence of epistaxis, and referral of patients to specialist ENT services. We studied the correlation between anemia and clinical parameters such as documented digestive telangiectasia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>The main results confirmed the dominance of epistaxis among the documented symptoms. Anemia was correlated with age and presence of documented digestive telangiectasia. Only 55% of patients with epistaxis were referred to an otorhinolaryngologist. The majority of patients (65%) had documented multisystem involvement of at least 2 organs, and the majority of important VMs (lung and liver) were documented properly. However, liver malformations remain not documented in 41% of cases and lung malformations in 31% of cases. In our cohort, 61% of patients underwent genetic analysis (80% ENG and\/or ACVRL1). However, there was no significant association between genetic and multisystem work-up or specific phenotype.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>We highlighted the importance of epistaxis as a cardinal symptom in the management of HHT. We also highlighted strengths and gaps that could lead to future improvements, such as systematic referral of patients with epistaxis to ENT and improved coordination of care. Further longitudinal studies would allow us to assess the impact of improved pathways to improve patient care nationwide.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/01455613251363024","type":"journal-article","created":{"date-parts":[[2025,7,31]],"date-time":"2025-07-31T11:40:52Z","timestamp":1753962052000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Reviewing the Efficiency of the Initial Work-Up for Hereditary Hemorrhagic Telangiectasia in a Tertiary Referral University Center in Belgium"],"prefix":"10.1177","author":[{"given":"Cl\u00e9ment","family":"Palm","sequence":"first","affiliation":[{"name":"Medical school, University of Li\u00e8ge, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne-Lise","family":"Poirrier","sequence":"additional","affiliation":[{"name":"ENT Department, University Hospital of Li\u00e8ge, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo","family":"Caers","sequence":"additional","affiliation":[{"name":"Hematology Department, University Hospital of Li\u00e8ge, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fanny","family":"Gester","sequence":"additional","affiliation":[{"name":"Pulmonology Department, University Hospital of Li\u00e8ge, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edith","family":"Sepulchre","sequence":"additional","affiliation":[{"name":"Genetic Department, University Hospital of Li\u00e8ge, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00e9verine","family":"Camby","sequence":"additional","affiliation":[{"name":"ENT Department, University Hospital of Li\u00e8ge, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Lefebvre","sequence":"additional","affiliation":[{"name":"ENT Department, University Hospital of Li\u00e8ge, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9483-6495","authenticated-orcid":false,"given":"Florence","family":"Rogister","sequence":"additional","affiliation":[{"name":"ENT Department, University Hospital of Li\u00e8ge, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,7,31]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI176379"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-024-00585-z"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2018.193003"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.3238\/arztebl.m2024.0111"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1177\/19458924231207123"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1281-4"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(20000306)91:1<66::aid-ajmg12>3.0.co;2-p"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.7326\/M20-1443"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1159\/000479632"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/ene.16128"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/ane.12167"},{"key":"e_1_3_2_13_2","unstructured":"Erasme D. List of competence centers. 2024. Accessed October 1 2024. https:\/\/amro-hht-france.org\/ou-se-faire-soigner-les-nouveaux-centres-de-competences\/"},{"key":"e_1_3_2_14_2","unstructured":"Schultze Kool L. Hereditary hemorrhagic telangiectasia working group. 2024. Accessed October 1 2024. https:\/\/vascern.eu"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/alr.21374"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1177\/0194599819889955"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.3238\/arztebl.m2024.0111"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11882-023-01116-8"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00405-021-06701-z"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.anl.2023.11.002"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.100865"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62193"},{"key":"e_1_3_2_23_2","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"McDonald J","year":"2000","unstructured":"McDonald J, Stevenson DA. Hereditary Hemorrhagic Telangiectasia. 2000 Jun 26 [updated 2021 Nov 24]. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews\u00ae [Internet]. University of Washington, Seattle; 1993\u20132025."},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.3390\/jcm9010082"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-024-00585-z"}],"container-title":["Ear, Nose &amp; Throat Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/01455613251363024","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/01455613251363024","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/01455613251363024","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T18:38:58Z","timestamp":1777401538000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/01455613251363024"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,31]]},"references-count":24,"alternative-id":["10.1177\/01455613251363024"],"URL":"https:\/\/doi.org\/10.1177\/01455613251363024","relation":{},"ISSN":["0145-5613","1942-7522"],"issn-type":[{"value":"0145-5613","type":"print"},{"value":"1942-7522","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,31]]},"article-number":"01455613251363024"}}