Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT
A new study from the Brain Vascular Malformation Consortium (BVMC) HHT Investigator Group - Summarized by Cassi Friday
The General Question: Are kids the same as adults in terms of brain vascular malformations related to HHT?
The Problem: Before this study, there was not a lot of information published looking at brain vascular malformations in children, the symptoms these malformations cause, their risk of bleeding, and the overall treatment trends. There was also no published information comparing pediatric and adult brain vascular malformations in HHT to understand if the symptoms, bleeding risk, and treatment trends are similar.
The study: This study included 114 pediatric patients and 253 adult patients with HHT-related vascular malformations in the brain. Researchers analyzed the symptoms patients were experiencing at the time of brain VM diagnosis (if any) and the type of treatment they received (if any).
The conclusion: Pediatric patients are significantly more likely to have symptomatic brain vascular malformations than adults.
The impact: We often have more information for adults than children and we apply that knowledge in how we treat children, but science has shown us time and time again that children are not just small adults, so this study is very important. This study provides robust evidence for the importance of screening children with HHT for brain vascular malformations.
More details:
It wasn’t until 2020 that HHT experts made a consensus that children with HHT should have screening for brain vascular malformations. In North America, this is common practice but has not been adopted globally as the standard of care. This paper provides clinical evidence of the importance of screening guidelines in pediatric patients for brain vascular malformations, as children seem to have more symptoms and a higher risk of bleeding compared to adults.
This study comes from the BVMC, a large HHT research study that includes 1,679 HHT patients recruited over the last 13 years. Patients (both pediatric and adult) with a brain vascular malformation were analyzed for symptoms like intracranial hemorrhage, stroke, focal deficits, seizures, headache, or the absence of symptoms. They were also analyzed by the type of treatment received and by what treatment method. There were no differences in males or females in the pediatric or adult groups, suggesting there is not an increased risk of symptoms or brain vascular malformation occurrence due to sex.
More pediatric patients had symptoms (most commonly, a headache) when they were diagnosed with a brain vascular malformation. This suggests that symptoms may have prompted investigation and diagnosis. Adults were less likely to experience symptoms and their brain vascular malformations were more often to be discovered in routine screening (a current guideline and practice). Of those who received treatment, there were no differences between treatment trends and post-treatment bleeding patterns between adults and children.
Without a genetic diagnosis of HHT, children often have a delayed diagnosis. The current clinical diagnostic criteria for HHT include two symptoms that often appear in older age: mucocutaneous telangiectases and spontaneous recurrent nosebleeds. This means many children will not meet clinical diagnostic criteria and will not be screened for brain vascular malformations (or vascular malformations in other organs). The increased number of children compared to adults who experience symptoms and complications from a brain vascular malformation as found in this study provides important justification for pediatric screening. The goal of screening is to identify, and where applicable, treat HHT-related brain vascular malformations in children before the onset of severe symptoms and complications.
Thank you Alexandra Kilian and Marie Faughnan for the work!
About the BVMC: https://bvmc.rarediseasesnetwork.org/our-consortium & https://bvmc.rarediseasesnetwork.org/research-study/6203 & https://curehht.org/research/participate-in-research/brain-avm-study/