Hereditary hemorrhagic telangiectasia (HHT) is a condition that causes abnormal blood vessels. The small abnormal blood vessels in HHT are called telangiectasia and the larger ones are called arteriovenous malformations (AVM). The purpose of this study is to learn more about brain AVMs (BAVMs) and bleeding in HHT. We plan to study risk factors for rupture of BAVMs and also for other bleeding and features of HHT disease, including genetics and imaging characteristics of the BAVMs The study will recruit people with and without brain arteriovenous malformations (BAVMs). BAVMs are abnormal blood vessels in the brain which affect approximately 10% of people who have HHT and can lead to brain hemorrhage.
This study will look at genetic and imaging characteristics of people with BAVMs to learn more about their risk factors. It was started 14 years ago and with renewed funding we are able to further our goals.
The research aims are:
- To increase our HHT clinical research database.
- To define a severe bleeding symptoms in HHT for clinical trial readiness.
- To identify genetic predictors and biological markers of severe bleeding and brain outcomes in HHT.
About this Study
This is a longitudinal study. About 2400 people with HHT will be asked to participate in this study, with an anticipation of recruiting 600 people with BAVMS. As a longitudinal study, we follow our participants over many years. At the first visit, participants will be asked to provide medical history information about their HHT. Participants will be asked questions about treatment that was received before and after diagnosis. After the first appointment, participants will be asked on a yearly basis about any new medical treatment received since the last appointment.
For the first visit, participants will be asked to:
- Tell a member of the study team about their HHT history
- Provide a blood or saliva sample
- Provide imaging results from which the diagnosis of BAVMs was made (participants with BAVM)
To be eligible to participate, you must have:
- Definite clinical HHT diagnosis (at least 3 clinical Curaçao criteria) or genetic diagnosis of HHT.
- Curaçao criteria:
- spontaneous recurrent nosebleeds
- mucocutaneous telangiectasia at characteristic sites (lips, oral cavity, fingers or the nose)
- visceral involvement such as gastrointestinal telangiectasia (with or without bleeding), pulmonary arteriovenous malformation (AVM), hepatic VM, brain AVMs, spinal AVM
- an affected first-degree relative by same criteria
- Definite clinical HHT diagnosis (at least 3 Curaçao criteria) or genetic diagnosis of HHT.
- Curaçao criteria (above)
- Presence of BAVM
Individuals are NOT eligible to participate if:
- HHT is not diagnosed in that individual
- The individual cannot provide consent
How to join this study
There are two ways to enroll in this study:
- Contact your HHT Clinical Center:
Contact the research study coordinator of any of the participating institutions by phone or by e-mail.
Please use the information the right to inquire about participation.
- Individuals diagnosed with HHT and brain AVM and want to join this BVMC study, and do not live close to a participating institution or do not want to attend a center. The HHT Foundation/Cure HHT can help with participation (no travel required).
Individuals can contact the research team at HHT Foundation/Cure HHT.