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Background <p>Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant vascular disorder characterized by multisystem arteriovenous malformations (AVMs). Still, the influence of demographic factors and specific pathogenic variants on systemic and cerebrovascular involvement remains incompletely defined.</p> Methods <p>We retrospectively included 142 patients with genetically confirmed HHT diagnosis. Systemic and neurovascular data were collected for each patient and stratified by age and sex. Then, we conducted univariate analyses for genotype-phenotype correlations after adjusting for age and sex. Afterwards, the significant associations were tested in multivariable logistic regression models to verify confounding effects.</p> Results <p>Hepatic AVMs and gastrointestinal bleeding increased significantly with age, whereas neurological manifestations showed no age dependency. In multivariable analysis for hepatic AVMs, increasing age was independently associated with hepatic involvement (<i>p</i> = 0.037), while ENG (<i>p</i> = 0.035) was associated with a lower likelihood of hepatic AVMs compared to ACVRL1. For brain AVMs, age, ENG gene, and variant truncation status were independent predictors, and the ACVRL1 c.277&#xa0;C &gt; T (p.Arg93*) mutation showed an independent association (<i>p</i> = 0.035).</p> Conclusions <p>In HHT, age and gene-level effects are robust predictors of systemic AVM involvement, whereas mutation-specific associations remain difficult to evaluate. Larger multicenter studies are needed to validate variant-level risk and support personalized surveillance strategies.</p>

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Genotype-driven cerebrovascular risk across age and sex in hereditary hemorrhagic telangiectasia

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月16日

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  • Matteo Palermo,
  • Federico Cocilovo,
  • Gianluca Trevisi,
  • Emanuela Lucci Cordisco,
  • Luigi Di Martino,
  • Elena Sonnini,
  • Alessio Albanese,
  • Francesco Doglietto,
  • Alessandro Olivi,
  • Roberto Pola,
  • Eleonora Gaetani,
  • Carmelo Lucio Sturiale

摘要

Background

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant vascular disorder characterized by multisystem arteriovenous malformations (AVMs). Still, the influence of demographic factors and specific pathogenic variants on systemic and cerebrovascular involvement remains incompletely defined.

Methods

We retrospectively included 142 patients with genetically confirmed HHT diagnosis. Systemic and neurovascular data were collected for each patient and stratified by age and sex. Then, we conducted univariate analyses for genotype-phenotype correlations after adjusting for age and sex. Afterwards, the significant associations were tested in multivariable logistic regression models to verify confounding effects.

Results

Hepatic AVMs and gastrointestinal bleeding increased significantly with age, whereas neurological manifestations showed no age dependency. In multivariable analysis for hepatic AVMs, increasing age was independently associated with hepatic involvement (p = 0.037), while ENG (p = 0.035) was associated with a lower likelihood of hepatic AVMs compared to ACVRL1. For brain AVMs, age, ENG gene, and variant truncation status were independent predictors, and the ACVRL1 c.277 C > T (p.Arg93*) mutation showed an independent association (p = 0.035).

Conclusions

In HHT, age and gene-level effects are robust predictors of systemic AVM involvement, whereas mutation-specific associations remain difficult to evaluate. Larger multicenter studies are needed to validate variant-level risk and support personalized surveillance strategies.