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In this review, we summarize the current Danish practice on screening, diagnosis, treatment and outpatient control of HHT patients, put an emphasis on the importance of proper screening and treatment of HHT-associated anaemia, and address the latest addition of biological treatment and advances in genetic sequencing to be utilized in HHT.<\/jats:p>","DOI":"10.61409\/v11240781","type":"journal-article","created":{"date-parts":[[2025,6,10]],"date-time":"2025-06-10T08:07:09Z","timestamp":1749542829000},"page":"1-11","source":"Crossref","is-referenced-by-count":0,"title":["Hereditary haemorrhagic telangeiectasia"],"prefix":"10.61409","author":[{"given":"Kumanan Rune","family":"Nanthan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pernille Mathiesen","family":"T\u00f8rring","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jens","family":"Kjeldsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anette Dam","family":"Fialla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bibi","family":"Lange","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Troels Halfeld","family":"Nielsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mikkel Seremet","family":"Kofoed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pernille Darre","family":"Haahr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gitte Maria","family":"J\u00f8rgensen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anette Dr\u00f8hse","family":"Kjeldsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"40208","published-online":{"date-parts":[[2025,6,2]]},"reference":[{"key":"ref0","doi-asserted-by":"publisher","unstructured":"Shovlin CL, Buscarini E, Sabb\u00e0 C et al. The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care. Eur J Med Genet. 2022;65:104370. https:\/\/doi.org\/10.1016\/j.ejmg.2021.104370","DOI":"10.1016\/j.ejmg.2021.104370"},{"key":"ref1","doi-asserted-by":"publisher","unstructured":"Kjeldsen AD, Vase P, Green A. Hereditary haemorrhagic telangiectasia: a population\u2010based study of prevalence and mortality in Danish patients. J Intern Med. 1999;245(1):31-9. https:\/\/doi.org\/10.1046\/j.1365-2796.1999.00398.x","DOI":"10.1046\/j.1365-2796.1999.00398.x"},{"key":"ref2","doi-asserted-by":"publisher","unstructured":"Lyster AL, Bi\u00f8rn SH, Kjeldsen AD et al. The bleeding diathesis in patients with hereditary haemorrhagic telangiectasia is not due to impaired platelet function. Orphanet J Rare Dis. 2023;18(1):354. https:\/\/doi.org\/10.1186\/s13023-023-02968-z","DOI":"10.1186\/s13023-023-02968-z"},{"key":"ref3","doi-asserted-by":"publisher","unstructured":"Shovlin CL, Guttmacher AE, Buscarini E et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000;91(1):66-7. https:\/\/doi.org\/10.1002\/(sici)1096-8628(20000306)91:1<66::aid-ajmg12>3.0.co;2-p","DOI":"10.1002\/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P"},{"key":"ref4","doi-asserted-by":"publisher","unstructured":"Mathavan A, Mathavan A, Reddy R et al. Pulmonary hypertension in hereditary hemorrhagic telangiectasia: a clinical review. Pulm Circ. 2023;13(4):e12301. https:\/\/doi.org\/10.1002\/pul2.12301","DOI":"10.1002\/pul2.12301"},{"key":"ref5","unstructured":"Simonsen SK, Nielsen TH, Dalby RB et al. Screening for cerebrale arterioven\u00f8se malformationer ved mb. Osler. Ugeskr L\u00e6ger. 2021;183:V12200905"},{"key":"ref6","unstructured":"Haahr PD, Kjeldsen J, Poulsen MK et al. Manifestationer af hepatiske arterioven\u00f8se malformationer ved heredit\u00e6r h\u00e6moragisk telangiektasi. Ugeskr L\u00e6ger. 2023;185:V12220752"},{"key":"ref7","doi-asserted-by":"publisher","unstructured":"T\u00f8rring PM, Brusgaard K, Ousager LB et al. National mutation study among Danish patients with hereditary haemorrhagic telangiectasia. Clin Genet. 2014;86(2):123-33. https:\/\/doi.org\/10.1111\/cge.12269","DOI":"10.1111\/cge.12269"},{"key":"ref8","doi-asserted-by":"publisher","unstructured":"McAllister KA, Grogg KM, Johnson DW et al. Endoglin, a TGF-\u03b2 binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet. 1994;8(4):345-51. https:\/\/doi.org\/10.1038\/ng1294-345","DOI":"10.1038\/ng1294-345"},{"key":"ref9","doi-asserted-by":"publisher","unstructured":"Johnson DW, Berg JN, Baldwin MA et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet. 1996;13(2):189-95. https:\/\/doi.org\/10.1038\/ng0696-189","DOI":"10.1038\/ng0696-189"},{"key":"ref10","doi-asserted-by":"publisher","unstructured":"Gallione CJ, Repetto GM, Legius E et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet. 2004;363(9412):852-9. https:\/\/doi.org\/10.1016\/S0140-6736(04)15732-2","DOI":"10.1016\/S0140-6736(04)15732-2"},{"key":"ref11","unstructured":"Locke T, Gollamudi J, Chen P. Hereditary hemorrhagic telangiectasia (HHT). Treasure Island: StatPearls Publishing, 2022. www.ncbi.nlm.nih.gov\/books\/NBK578186\/ (7. okt 2024)"},{"key":"ref12","doi-asserted-by":"publisher","unstructured":"Heald B, Rigelsky C, Moran R et al. Prevalence of thoracic aortopathy in patients with juvenile polyposis syndrome \u2010 hereditary hemorrhagic telangiectasia due to SMAD4. Am J Med Genet A. 2015;167A(8):1758-62. https:\/\/doi.org\/10.1002\/ajmg.a.37093","DOI":"10.1002\/ajmg.a.37093"},{"key":"ref13","doi-asserted-by":"publisher","unstructured":"Whitehead KJ, Toydemir D, Wooderchak-Donahue W et al. Investigation of the genetic determinants of telangiectasia and solid organ arteriovenous malformation formation in hereditary hemorrhagic telangiectasia (HHT). Int J Mol Sci. 2024;25(14):7682. https:\/\/doi.org\/10.3390\/ijms25147682","DOI":"10.3390\/ijms25147682"},{"key":"ref14","doi-asserted-by":"publisher","unstructured":"DeBose-Scarlett E, Ressler AK, Gallione CJ et al. Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis. Am J Hum Genet. 2024;111(10):2283-2298. https:\/\/doi.org\/10.1016\/j.ajhg.2024.08.020","DOI":"10.1016\/j.ajhg.2024.08.020"},{"key":"ref15","doi-asserted-by":"publisher","unstructured":"Faughnan ME, Mager JJ, Hetts SW et al. Second international guidelines for the diagnosis an management of hereditary hemorrhagic telangiectasia. Ann Intern Med. 2020;173(12):989-1001. https:\/\/doi.org\/10.7326\/M20-1443","DOI":"10.7326\/M20-1443"},{"key":"ref16","doi-asserted-by":"publisher","unstructured":"Aassar OS, Friedman CM, White RI. The natural history of epistaxis in hereditary hemorrhagic telangiectasia. Laryngoscope. 1991;101(9):977-80. https:\/\/doi.org\/10.1288\/00005537-199109000-00008","DOI":"10.1288\/00005537-199109000-00008"},{"key":"ref17","unstructured":"Dansk Selskab for Medicinsk Genetik, Dansk Kirurgisk Selskab. Guideline: udredning og opf\u00f8lgning for arvelige polyposesyndromer. Dansk Selskab for Medicinsk Genetik & Dansk Kirurgisk Selskab, 2025. https:\/\/dsmg.dk\/wp-content\/uploads\/2025\/02\/Polyposeguideline_Revision2025.pdf (apr 2025)"},{"key":"ref18","doi-asserted-by":"publisher","unstructured":"Andersen JH, Kjeldsen AD. Patient-recorded benefit from nasal closure in a Danish cohort of patients with hereditary haemorrhagic telangiectasia. Eur Arch Otorhinolaryngol. 2020;277(3):791-800. https:\/\/doi.org\/10.1007\/s00405-019-05758-1","DOI":"10.1007\/s00405-019-05758-1"},{"key":"ref19","unstructured":"Biolitec. The LEONARDO\u00ae-Laser Family: mobile, efficient, and high-quality diode lasers are our passion. www.biolitec.com\/en\/products\/leonardo-laser-family.html (19. okt 2024)"},{"key":"ref20","doi-asserted-by":"publisher","unstructured":"Kuan EC, Peng KA, Thompson CF et al. Sinonasal quality of life outcomes following laser treatment of epistaxis related to hereditary hemorrhagic telangiectasia. Lasers Med Sci. 2017;32(3):527-531. https:\/\/doi.org\/10.1007\/s10103-017-2144-7","DOI":"10.1007\/s10103-017-2144-7"},{"key":"ref21","unstructured":"Rosenberg T, Fialla AD, Kjeldsen J et al. Does severe bleeding in HHT patients respond to intravenous bevacizumab? Review of the literature and case series. Rhinology. 2019;57(4):242-251. 10.4193\/Rhin18.289"},{"key":"ref22","doi-asserted-by":"publisher","unstructured":"Zaffar N, Ravichakaravarthy T, Faughnan ME et al. The use of anti-fibrinolytic agents in patients with HHT: a retrospective survey. Ann Hematol. 2015;94(1):145-52. https:\/\/doi.org\/10.1007\/s00277-014-2169-y","DOI":"10.1007\/s00277-014-2169-y"},{"key":"ref23","doi-asserted-by":"publisher","unstructured":"Mora-Luj\u00e1n JM, Iriarte A, Alba E et al. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia: risk factors and endoscopic findings. J Clin Med 2019;9:82. https:\/\/doi.org\/10.3390\/jcm901008","DOI":"10.3390\/jcm9010082"},{"key":"ref24","doi-asserted-by":"publisher","unstructured":"Virk ZM, Zhang E, Rodriguez-Lopez J et al. Safety, tolerability, and effectiveness of anticoagulation and antiplatelet therapy in hereditary hemorrhagic telangiectasia. J Thromb Haemost. 2023;21(1):26-36. https:\/\/doi.org\/10.1016\/j.jtha.2022.09.003","DOI":"10.1016\/j.jtha.2022.09.003"},{"key":"ref25","doi-asserted-by":"publisher","unstructured":"Hsu YL, Wang HC, Yang PC. Desbaric air embolism during diving: an unusual complication of Osler-Weber-Rendu disease. Br J Sports Med. 2004;38(4):E6. https:\/\/doi.org\/10.1136\/bjsm.2002.004432","DOI":"10.1136\/bjsm.2002.004432"},{"key":"ref26","doi-asserted-by":"publisher","unstructured":"De Gussem EM, Kroon S, Hosman AE et al. Hereditary hemorrhagic telangiectasia (HHT) and survival: the importance of systematic screening and treatment in HHT centers of excellence. J Clin Med. 2020;9(11):3581. https:\/\/doi.org\/10.3390\/jcm9113581","DOI":"10.3390\/jcm9113581"},{"key":"ref27","doi-asserted-by":"publisher","unstructured":"Kjeldsen A, Aagaard KS, T\u00f8rring PM et al. 20-year follow-up study of Danish HHT patients-survival and causes of death. 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