ArticleJournal of internal medicine2026
Expected survival is decreased in hereditary hemorrhagic telangiectasia: Results from a population-based registry study.
Article in Journal of internal medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Patients with hereditary hemorrhagic telangiectasia have significantly reduced overall survival-And likely by a greater magnitude than we realize.Journal of internal medicine · 2026Article
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5 authors.
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Abstract
backgroundHereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder associated with substantial morbidity.
objectivesThe aim of this study was to estimate mortality in a country without centralized national care for HHT patients. Moreover, we identified causes of death and estimated the prevalence of HHT in Sweden.
methodsThe Swedish National Patient Register (NPR) was used to identify individuals with HHT using the International Classification of Diseases (ICD) code I78.0. Cases included all individuals with this code between January 1, 2001 and December 31, 2003 (n = 393). Five age- and gender-matched controls from the general population were selected by Statistics Sweden (SCB) (n = 1965). Cases and controls were followed for survival until 2018 using the Swedish National Cause of Death Register (DORS). To calculate prevalence, we identified all individuals with the ICD code I78.0 in the NPR over 12 years, from January 1, 2007 to December 30, 2018.
resultsLife expectancy for cases with HHT after age 30 was estimated at 73.0 (68.0-77.2) compared to 80.5 (79.1-82.0) years for controls. Ischemic heart diseases, diseases of arteries, arterioles, capillaries, and liver diseases were significantly more common causes of death among HHT patients. The prevalence of HHT was estimated at 9.3 per 100,000 over the 12 years.
conclusionHHT in Sweden is associated with markedly shorter expected survival compared to the general population, and known complications of HHT are among the most common causes of death. The estimated prevalence of HHT in Sweden was relatively low, possibly due to underdiagnosis of those with milder symptoms.
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