Global prevalence of hereditary hemorrhagic telangiectasia-associated variants estimated by analysis of large-scale genomic databases

Puntos clave

• Higher genetic prevalence of hereditary hemorrhagic telangiectasia (HHT) variants is identified in the population.
• Utilizing large-scale genomic databases, the analysis reveals significant prevalence variations.
• This assessment shows that current estimates of HHT variants are likely underestimated, impacting healthcare policies.
• Findings highlight the need for increased awareness and screening for hereditary hemorrhagic telangiectasia.