McAllister, K. A. et al. Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat. Genet. 8, 345–351 (1994).
Article CAS PubMed Google Scholar
Johnson, D. W. et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat. Genet. 13, 189–195 (1996).
Article CAS PubMed Google Scholar
Gallione, C. J. et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 363, 852–859 (2004).
Article CAS PubMed Google Scholar
Balachandar, S. et al. Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations. Am. J. Med. Genet. A 188, 959–964 (2022).
Article CAS PubMed Google Scholar
Wooderchak-Donahue, W. L. et al. BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. Am. J. Hum. Genet. 93, 530–537 (2013).
Article CAS PubMed PubMed Central Google Scholar
Goumans, M.-J., Zwijsen, A., Ten Dijke, P. & Bailly, S. Bone morphogenetic proteins in vascular homeostasis and disease. Cold Spring Harb. Perspect. Biol. 10, a031989 (2018).
Article PubMed PubMed Central Google Scholar
Shovlin, C. L. et al. Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of ‘gene-negative’ individuals recruited to the 100000 Genomes Project. J. Med. Genet. 61, 182–185 (2024).
Article CAS PubMed Google Scholar
Shovlin, C. L. et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu–Osler–Weber syndrome). Am. J. Med. Genet. 91, 66–67 (2000).
Article CAS PubMed Google Scholar
Zhang, E., Virk, Z. M., Rodriguez-Lopez, J. & Al-Samkari, H. Hereditary hemorrhagic telangiectasia may be the most morbid inherited bleeding disorder in women. Blood Adv. 8, 3166–3172 (2024).
Article PubMed PubMed Central Google Scholar
Kelly, C., Buscarini, E., Manfredi, G., Gregory, S. & Heneghan, M. A. Hepatic manifestations of hereditary haemorrhagic telangiectasia. Liver Int. 44, 2220–2234 (2024).
Article CAS PubMed Google Scholar
Krings, T. et al. Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age. Review of 50 consecutive patients aged 1 day–60 years. Neuroradiology 47, 711–720 (2005).
Article CAS PubMed Google Scholar
Kjeldsen, A. D., Vase, P. & Green, A. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J. Intern. Med. 245, 31–39 (1999).
Article CAS PubMed Google Scholar
Plauchu, H., de Chadarévian, J. P., Bideau, A. & Robert, J. M. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am. J. Med. Genet. 32, 291–297 (1989).
Article CAS PubMed Google Scholar
Lesca, G. et al. Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients. Eur. J. Hum. Genet. 16, 742–749 (2008).
Article CAS PubMed Google Scholar
Dakeishi, M. et al. Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. Hum. Mutat. 19, 140–148 (2002).
Article CAS PubMed Google Scholar
Serra, M. M., Papi, M. & Serrano, C. Prevalence of hereditary hemorrhagic telangiectasia in a medical care program organization in Buenos Aires, Argentina. Medicina 84, 221–226 (2024).
Donaldson, J. W., McKeever, T. M., Hall, I. P., Hubbard, R. B. & Fogarty, A. W. Complications and mortality in hereditary hemorrhagic telangiectasia: a population-based study. Neurology 84, 1886–1893 (2015).
Article PubMed PubMed Central Google Scholar
McDonald, J. et al. Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited. Genet. Med. 25, 100865 (2023).
Article CAS PubMed Google Scholar
Kilian, A. et al. Genotype–phenotype correlations in children with HHT. J. Clin. Med. 9, 2714 (2020).
Article PubMed PubMed Central Google Scholar
Faughnan, M. E. et al. Second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia. Ann. Intern. Med. 173, 989–1001 (2020).
Shovlin, C. L. et al. British Thoracic Society clinical statement on pulmonary arteriovenous malformations. Thorax 72, 1154–1163 (2017).
European Association for the Study of the Liver. EASL clinical practice guidelines: vascular diseases of the liver. J. Hepatol. 64, 179–202 (2016).
Eker, O. F. et al. European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT). Orphanet J. Rare Dis. 15, 165 (2020).
Article PubMed PubMed Central Google Scholar
Shovlin, C. L. 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. 65, 104370 (2022).
Article CAS PubMed Google Scholar
Dupuis-Girod, S. et al. European Reference Network for Rare Vascular Diseases (VASCERN): when and how to use intravenous bevacizumab in hereditary haemorrhagic telangiectasia (HHT)? Eur. J. Med. Genet. 65, 104575 (2022).
Article CAS PubMed Google Scholar
Thompson, K. P. et al. Predictors of mortality in patients with hereditary hemorrhagic telangiectasia. Orphanet J. Rare Dis. 16, 12 (2021).
Article CAS PubMed PubMed Central Google Scholar
Kjeldsen, A., Aagaard, K. S., Tørring, P. M., Möller, S. & Green, A. 20-year follow-up study of Danish HHT patients—survival and causes of death. Orphanet J. Rare Dis. 11, 157 (2016).
Article PubMed PubMed Central Google Scholar
de Gussem, E. M. et al. Life expectancy of parents with hereditary haemorrhagic telangiectasia. Orphanet J. Rare Dis. 11, 46 (2016).
Article PubMed PubMed Central Google Scholar
Droege, F. et al. Life expectancy and comorbidities in patients with hereditary hemorrhagic telangiectasia. Vasc. Med. 23, 377–383 (2018).
Duarte, C. W. et al. Improved survival outcomes in cancer patients with hereditary hemorrhagic telangiectasia. Cancer Epidemiol. Biomark. Prev. 23, 117–125 (2014).
Hosman, A. E., Devlin, H. L., Silva, B. M. & Shovlin, C. L. Specific cancer rates may differ in patients with hereditary haemorrhagic telangiectasia compared to controls. Orphanet J. Rare Dis. 8, 195 (2013).
Article PubMed PubMed Central Google Scholar
Jain, K. et al. Pathogenic variant frequencies in hereditary haemorrhagic telangiectasia support clinical evidence of protection from myocardial infarction. J. Clin. Med. 13, 250 (2023).
Comments (0)