{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T12:19:59Z","timestamp":1788437999815,"version":"build-2803163510"},"reference-count":19,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,5,4]]},"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:p>Hereditary haemorrhagic telangiectasia (HHT) is an uncommon autosomal dominant vascular disorder, most frequently associated with pathogenic variants in ENG or ACVRL1, resulting in multisystem arteriovenous malformations (AVMs). We report a middle-aged woman with primary antiphospholipid syndrome on chronic enoxaparin therapy who presented with exertional dyspnoea. CT demonstrated bilateral pulmonary AVMs (PAVMs), and clinical evaluation revealed mucocutaneous telangiectasias. Genetic testing identified an ENG mutation, confirming HHT type 1 according to the three Cura\u00e7ao criteria. Selective microcoil embolisation of PAVMs with feeding arteries &gt;3\u2009mm led to marked improvement in functional capacity. HHT1 is predominantly associated with pulmonary and cerebral AVMs, whereas HHT2 and juvenile polyposis\u2013hereditary haemorrhagic telangiectasia syndrome involve hepatic and gastrointestinal manifestations. Diagnostic assessment relies on echocardiographic contrast studies and CT angiography. Embolisation represents the standard of care for significant PAVMs with periodic radiological surveillance recommended. This case underscores the importance of early recognition and multidisciplinary management to mitigate HHT-associated complications.<\/jats:p>","DOI":"10.1136\/bcr-2026-273656","type":"journal-article","created":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T12:30:28Z","timestamp":1779971428000},"page":"e273656","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Hereditary haemorrhagic telangiectasia as a cause of exertional dyspnoea"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3069-742X","authenticated-orcid":false,"given":"Laura","family":"Lopes","sequence":"first","affiliation":[{"name":"Pulmonology, ULS Coimbra, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0438-8597","authenticated-orcid":false,"given":"Pedro Gon\u00e7alo","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Pulmonology, ULS Coimbra, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,5,27]]},"reference":[{"key":"2026090305101789000_19.5.e273656.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2010.07.001"},{"key":"2026090305101789000_19.5.e273656.2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.35"},{"key":"2026090305101789000_19.5.e273656.3","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1002\/ajmg.a.31101","article-title":"Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations","volume":"140","author":"Bayrak-Toydemir","year":"2006","journal-title":"Am J Med Genet A"},{"key":"2026090305101789000_19.5.e273656.4","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.158.2.9711041"},{"key":"2026090305101789000_19.5.e273656.5","doi-asserted-by":"publisher","DOI":"10.7326\/M20-1443"},{"key":"2026090305101789000_19.5.e273656.6","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2015.00001","article-title":"Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era","volume":"6","author":"McDonald","year":"2015","journal-title":"Front Genet"},{"key":"2026090305101789000_19.5.e273656.7","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0775-8"},{"key":"2026090305101789000_19.5.e273656.8","doi-asserted-by":"publisher","DOI":"10.1182\/hematology.2021000281"},{"key":"2026090305101789000_19.5.e273656.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.09.010"},{"key":"2026090305101789000_19.5.e273656.10","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0331690","article-title":"Obstructive airway disorders affecting individuals with hereditary hemorrhagic telangiectasia: A database review","volume":"20","author":"Sinnatamby","year":"2025","journal-title":"PLoS One"},{"key":"2026090305101789000_19.5.e273656.11","doi-asserted-by":"crossref","first-page":"230","DOI":"10.4330\/wjc.v7.i5.230","article-title":"Pulmonary hypertension in hereditary haemorrhagic telangiectasia","volume":"7","author":"Vorselaars","year":"2015","journal-title":"World J Cardiol"},{"key":"2026090305101789000_19.5.e273656.12","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1164\/rccm.201704-0765ED","article-title":"Classifying Pulmonary Hypertension in Hereditary Hemorrhagic Telangiectasia. Hemodynamics Matter","volume":"196","author":"Roman","year":"2017","journal-title":"Am J Respir Crit Care Med"},{"key":"2026090305101789000_19.5.e273656.13","doi-asserted-by":"crossref","DOI":"10.3390\/ijms19103203","article-title":"Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia","volume":"19","author":"Vorselaars","year":"2018","journal-title":"Int J Mol Sci"},{"key":"2026090305101789000_19.5.e273656.14","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(91)90287-U"},{"key":"2026090305101789000_19.5.e273656.15","doi-asserted-by":"publisher","DOI":"10.1016\/S1051-0443(96)70851-5"},{"key":"2026090305101789000_19.5.e273656.16","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1160\/TH07-01-0064","article-title":"Elevated factor VIII in hereditary haemorrhagic telangiectasia (HHT): Association with venous thromboembolism","volume":"98","author":"Shovlin","year":"2007","journal-title":"Thromb Haemost"},{"key":"2026090305101789000_19.5.e273656.17","doi-asserted-by":"publisher","DOI":"10.3109\/02841859809175505"},{"key":"2026090305101789000_19.5.e273656.18","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/S1051-0443(99)70132-6","article-title":"Embolotherapy of pulmonary arteriovenous malformations with detachable balloons: long-term durability and efficacy","volume":"10","author":"Saluja","year":"1999","journal-title":"J Vasc Interv Radiol"},{"key":"2026090305101789000_19.5.e273656.19","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/j.xjon.2024.11.002","article-title":"Surgical resection of diffuse pulmonary arteriovenous malformations (PAVMs)","volume":"23","author":"Falk","year":"2025","journal-title":"JTCVS Open"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2026-273656","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T12:10:26Z","timestamp":1788437426000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2026-273656"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5]]},"references-count":19,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2026,5,27]]},"published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1136\/bcr-2026-273656"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2026-273656","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5]]}}}