ArticleOrphanet journal of rare diseases2021
Predictors of mortality in patients with hereditary hemorrhagic telangiectasia.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 26 citations in OpenAlex.
- Characteristics associated with clinical response to pomalidomide in hereditary hemorrhagic telangiectasia.Blood advances · 2026Trial
- Expected survival is decreased in hereditary hemorrhagic telangiectasia: Results from a population-based registry study.Journal of internal medicine · 2026Article
- Article
- Pomalidomide for hereditary hemorrhagic telangiectasia: after trial longitudinal assessment study (PATH-HHT ATLAS).Blood advances · 2026Observational
- Validation and clinical application of the hereditary hemorrhagic telangiectasia-specific quality of life scale.Journal of thrombosis and haemostasis : JTH · 2026Article
- Article
- Standardization of Terminology, Definitions, and Outcome Criteria for Bleeding in Hereditary Hemorrhagic Telangiectasia: International Consensus Report.American journal of hematology · 2025Review
- Characterizing the Healthcare Utilization and Costs of Hereditary Hemorrhagic Telangiectasia.American journal of hematology · 2025Article
- Hereditary haemorrhagic telangiectasia.Nature reviews. Disease primers · 2025Review
- Analysis of the role of perfusion parameters in predicting rupture of brain arteriovenous malformations: a multi-center study.Scientific reports · 2024Article
- Pulmonary vascular manifestations of hereditary haemorrhagic telangiectasia.Pulmonary circulation · 2024Review
- Iron deficiency responses and integrated compensations in patients according to hereditary hemorrhagic telangiectasiaHaematologica · 2024Article
- Hereditary Hemorrhagic Telangiectasia and Arterio-Venous Malformations-From Diagnosis to Therapeutic Challenges.Journal of clinical medicine · 2022Review
- Right hemihepatectomy combined with ligation of the common hepatic artery and gastroduodenal artery for the treatment of intrahepatic HHT: A case report.Frontiers in surgery · 2022Article
- Utility of modified Rankin Scale for brain vascular malformations in hereditary hemorrhagic telangiectasia.Orphanet journal of rare diseases · 2021Article
- Pilot investigation of circulating angiogenic and inflammatory biomarkers associated with vascular malformations.Orphanet journal of rare diseases · 2021Article
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Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundRetrospective questionnaire and healthcare administrative data suggest reduced life expectancy in untreated hereditary hemorrhagic telangiectasia (HHT). Prospective data suggests similar mortality, to the general population, in Denmark's centre-treated HHT patients. However, clinical phenotypes vary widely in HHT, likely affecting mortality. We aimed to measure predictors of mortality among centre-treated HHT patients. HHT patients were recruited at 14 HHT centres of the Brain Vascular Malformation Consortium (BVMC) since 2010 and followed annually. Vital status, organ vascular malformations (VMs) and clinical symptoms data were collected at baseline and during follow-up (N = 1286). We tested whether organ VMs, HHT symptoms and HHT genes were associated with increased mortality using Cox regression analysis, adjusting for patient age, sex, and smoking status.
results59 deaths occurred over average follow-up time of 3.4 years (max 8.6 years). A history of anemia was associated with increased mortality (HR = 2.93, 95% CI 1.37-6.26, p = 0.006), as were gastro-intestinal (GI) bleeding (HR = 2.63, 95% CI 1.46-4.74, p = 0.001), and symptomatic liver VMs (HR = 2.10, 95% CI 1.15-3.84, p = 0.015). Brain VMs and pulmonary arteriovenous malformations (AVMs) were not associated with mortality (p > 0.05). Patients with SMAD4 mutation had significantly higher mortality (HR = 18.36, 95% CI 5.60-60.20, p < 0.001) compared to patients with ACVRL1 or ENG mutation, but this estimate is imprecise given the rarity of SMAD4 patients (n = 33, 4 deaths).
conclusionsChronic GI bleeding, anemia and symptomatic liver VMs are associated with increased mortality in HHT patients, independent of age, and in keeping with the limited treatment options for these aspects of HHT. Conversely, mortality does not appear to be associated with pulmonary AVMs or brain VMs, for which patients are routinely screened and treated preventatively at HHT Centres. This demonstrates the need for development of new therapies to treat chronic anemia, GI bleeding, and symptomatic liver VMs in order to reduce mortality among HHT patients.
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