A contemporary picture of bacterial infections in patients with hereditary hemorrhagic telangiectasia: A nationwide cohort study

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OBJECTIVES: Patients with hereditary hemorrhagic telangiectasia (HHT) present increased risk of severe infections. Studies focusing on infections in HHT population are scarce. We aimed to assess characteristics and outcomes of infections in patients with HHT. METHODS: A retrospective study was conducted in a nationwide cohort of 4502 HHT patients. Patients with HHT hospitalized for infection across 16 referral centers in France between 2010 and 2024 were identified, and data were collected through a standardized questionnaire. RESULTS: We included 163 HHT patients (median age, 60 years [49-69], 52% male), who experienced a total of 249 bacterial infections. One third (n=53/163) experienced recurrent infections requiring hospitalization. Infections caused by Staphylococcus aureus were reported in 80 patients representing 107 episodes of infection. Brain abscesses were reported in 43 patients representing 51 episodes, often despite prior pulmonary arteriovenous malformations embolization (n=17/43). In multivariable analysis, factors associated with 1-year mortality (n=27/163, 17%) were age (aHR=1.06, 95%CI:1.01-1.16) and infective endocarditis (aHR=2.88, 95%CI:1.10-7.87). CONCLUSIONS: In this HHT cohort, severe infections were predominantly due to S. aureus, far ahead of brain abscesses caused by oral bacteria. Considering the high rate of recurrent infections, further studies focusing on prophylaxis strategies in HHT patients are needed.

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