Current Practice: Rationale for Screening Children with Hereditary Hemorrhagic Telangiectasia for Brain Vascular...

Area of Science:

• Neurology
• Genetics
• Vascular Medicine

Background:

• Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder.
• Approximately 10% of HHT patients develop brain vascular malformations (BVMs), including high-flow arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs).
• Rupture of high-flow BVMs can lead to severe neurological complications and mortality.

Purpose of the Study:

• To review data supporting screening guidelines for BVMs in children with HHT.
• To address and counter arguments against routine BVM screening in pediatric HHT patients.
• To emphasize the importance of early detection and management of BVMs in this population.

Main Methods:

• A multidisciplinary expert group reviewed existing data on BVMs in HHT.
• Analysis of rupture risks associated with pediatric high-flow lesions (AVFs).
• Evaluation of the applicability of adult trial data (ARUBA) to pediatric HHT patients.

Main Results:

• Children with HHT have a predominance of high-flow lesions, particularly AVFs, with significant rupture risk (approx. 0.7% per lesion/year).
• Adult trial data (ARUBA) is not directly applicable to pediatric HHT patients due to differences in life expectancy and lesion characteristics.
• Current interventional and surgical techniques allow for individualized treatment strategies by experienced neurovascular experts.

Conclusions:

• The expert group strongly supports current international guidelines recommending screening for BVMs in children with HHT.
• A 'watch and wait' approach is deemed unacceptable due to the risk of catastrophic hemorrhage.
• Proactive screening and management are essential to prevent neurological morbidity and mortality in pediatric HHT patients.