{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,16]],"date-time":"2025-11-16T21:52:53Z","timestamp":1763329973140,"version":"3.41.2"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,10,3]],"date-time":"2022-10-03T00:00:00Z","timestamp":1664755200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:p>Osler Weber Rendu Syndrome (OWS) is characterized by the development of abnormally dilated blood vessels, which manifest as arteriovenous shunts (pulmonary, gastrointestinal, hepatic, and cerebral) and mucocutaneous telangiectasias (lips, tongue, and fingertips). It is an autosomal dominant disease with a defect in transforming growth factor beta superfamily genes. This defect results in increased angiogenesis and disruption of vessel wall integrity. The disease remains underreported, with occasional history of recurrent epistaxis, iron deficiency anemia, and gastrointestinal bleeding in moderate to severe cases. Diagnosis is based on clinical presentation and confirmed by genetic testing. Various local (nasal saline, air humidification, laser ablation, and electric cauterization for epistaxis and endoscopic Argon Plasma Coagulation-APC for active GI bleeding), surgical, and systemic (tranexamic acid and antiangiogenic agents like bevacizumab and thalidomide) treatment options are used depending upon disease severity. Here, we present a case with recurrent gastrointestinal bleeding refractory to endoscopic APC ablation and thalidomide and severe symptomatic anemia requiring multiple packed red cell transfusions. The patient was ultimately started on bevacizumab, to which he had a good response and has remained in remission for 8 months as of now. This case emphasizes the need to have a low threshold of suspicion to diagnose HHT and start targeted therapy like bevacizumab early on in moderate to severe cases of HHT rather than just relying on temporizing palliative measures like ablation, cauterization, and tranexamic acid.<\/jats:p>","DOI":"10.3389\/fmed.2022.1001695","type":"journal-article","created":{"date-parts":[[2022,10,3]],"date-time":"2022-10-03T11:26:15Z","timestamp":1664796375000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Case report: Diagnosis of hereditary hemorrhagic telangiectasia (Osler Weber Rendu Syndrome) in a 23-year-old male presented with anemia and thrombocytopenia and its response to bevacizumab"],"prefix":"10.3389","volume":"9","author":[{"given":"Hamza","family":"Yunus","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Said","family":"Amin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Furqan Ul","family":"Haq","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Waqar","family":"Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanveer","family":"Hamid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wajid","family":"Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Basharat","family":"Ullah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Payal","family":"Bai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,10,3]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1002\/humu.10026","article-title":"Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan.","volume":"19","author":"Dakeishi","year":"2002","journal-title":"Hum Mutat."},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0850-2","article-title":"European reference network for rare vascular diseases (VASCERN) outcome measures for hereditary haemorrhagic telangiectasia (HHT).","volume":"13","author":"Shovlin","year":"2018","journal-title":"Orphanet J Rare Dis."},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-1337-5","article-title":"Gender differences in hereditary hemorrhagic telangiectasia severity.","volume":"15","author":"Mora-Luj\u00e1n","year":"2020","journal-title":"Orphanet J Rare Dis."},{"key":"B4","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1038\/ejhg.2009.35","article-title":"Hereditary haemorrhagic telangiectasia: a clinical and scientific review.","volume":"17","author":"Govani","year":"2009","journal-title":"Eur J Hum Genet."},{"key":"B5","doi-asserted-by":"publisher","first-page":"191","DOI":"10.2147\/JBM.S45295","article-title":"Optimal management of hereditary hemorrhagic telangiectasia.","volume":"5","author":"Garg","year":"2014","journal-title":"J Blood Med."},{"key":"B6","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1016\/j.jpeds.2018.01.079","article-title":"Applicability of the cura\u00e7ao criteria for the diagnosis of hereditary hemorrhagic telangiectasia in the pediatric population.","volume":"197","author":"Pahl","year":"2018","journal-title":"J Pediatr."},{"key":"B7","doi-asserted-by":"publisher","first-page":"948","DOI":"10.1001\/jama.2012.250","article-title":"Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output.","volume":"307","author":"Dupuis-Girod","year":"2012","journal-title":"JAMA."},{"key":"B8","doi-asserted-by":"publisher","first-page":"3025","DOI":"10.1016\/j.radcr.2022.05.088","article-title":"Rend\u00fa osler weber syndrome; case report.","volume":"17","author":"Garc\u00eda C\u00f3rdova","year":"2022","journal-title":"Radiol Case Rep."},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-33","article-title":"A long diagnostic delay in patients with hereditary haemorrhagic telangiectasia: a questionnaire-based retrospective study.","volume":"7","author":"Pierucci","year":"2012","journal-title":"Orphanet J Rare Dis."},{"key":"B10","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1148\/radiol.2021203487","article-title":"Hereditary hemorrhagic telangiectasia: the convergence of genotype, phenotype, and imaging in modern diagnosis and management of a multisystem disease.","volume":"300","author":"Hetts","year":"2021","journal-title":"Radiology."},{"key":"B11","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1097\/GIM.0b013e3182136d32","article-title":"Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis.","volume":"13","author":"McDonald","year":"2011","journal-title":"Genet Med."},{"key":"B12","doi-asserted-by":"publisher","first-page":"1433","DOI":"10.3324\/haematol.2018.193003","article-title":"Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist\u2019s perspective.","volume":"103","author":"Kritharis","year":"2018","journal-title":"Haematologica."},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1016\/j.mayocp.2017.11.013","article-title":"Intravenous bevacizumab for refractory hereditary hemorrhagic telangiectasia-related epistaxis and gastrointestinal bleeding. Mayo Clin Proc. 2018 Feb;93(2):155-166.","volume":"93","author":"Iyer","year":"2018","journal-title":"Erratum Mayo Clin Proc."},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0228486","article-title":"Bevacizumab for treating hereditary hemorrhagic telangiectasia patients with severe hepatic involvement or refractory anemia.","volume":"15","author":"V\u00e1zquez","year":"2020","journal-title":"PLoS One."},{"key":"B15","doi-asserted-by":"publisher","first-page":"32","DOI":"10.3121\/cmr.2013.1205","article-title":"Blessing for the bleeder: bevacizumab in hereditary hemorrhagic telangiectasia.","volume":"13","author":"Epperla","year":"2015","journal-title":"Clin Med Res."},{"key":"B16","doi-asserted-by":"crossref","first-page":"2143","DOI":"10.1056\/NEJMc0901421","article-title":"Bevacizumab in hereditary hemorrhagic telangiectasia.","volume":"360","author":"Bose","year":"2009","journal-title":"N Engl J Med."},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0188943","article-title":"Intra-venous bevacizumab in hereditary hemorrhagic telangiectasia (HHT): a retrospective study of 46 patients.","volume":"12","author":"Guilhem","year":"2017","journal-title":"PLoS One."},{"key":"B18","doi-asserted-by":"publisher","first-page":"630","DOI":"10.1080\/19420862.2015.1022693","article-title":"Dose - response relationship of bevacizumab in hereditary hemorrhagic telangiectasia.","volume":"7","author":"Azzopardi","year":"2015","journal-title":"MAbs."},{"key":"B19","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1007\/s00508-016-1124-4","article-title":"Intermittent low-dose bevacizumab in hereditary hemorrhagic telangiectasia : a case report.","volume":"129","author":"Huemer","year":"2017","journal-title":"Wien Klin Wochenschr."},{"key":"B20","doi-asserted-by":"crossref","first-page":"91","DOI":"10.2500\/ar.2014.5.0091","article-title":"Very low dose bevacizumab for the treatment of epistaxis in patients with hereditary hemorrhagic telangiectasia.","volume":"5","author":"Thompson","year":"2014","journal-title":"Allergy Rhinol."},{"key":"B21","doi-asserted-by":"publisher","first-page":"1886","DOI":"10.1212\/WNL.0000000000001538","article-title":"Complications and mortality in hereditary hemorrhagic telangiectasia: a population-based study.","volume":"84","author":"Donaldson","year":"2015","journal-title":"Neurology."}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2022.1001695\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,3]],"date-time":"2022-10-03T11:26:21Z","timestamp":1664796381000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2022.1001695\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,3]]},"references-count":21,"alternative-id":["10.3389\/fmed.2022.1001695"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2022.1001695","relation":{},"ISSN":["2296-858X"],"issn-type":[{"type":"electronic","value":"2296-858X"}],"subject":[],"published":{"date-parts":[[2022,10,3]]},"article-number":"1001695"}}