Hereditary Hemorrhagic Telangiectasia (HHT)

What is HHT?
Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder characterized by malformations of blood vessels which can result in hemorrhaging. More information about HHT may be found on the NIH’s website: https://www.ncbi.nlm.nih.gov/books/NBK1351/

What is the prevalence of HHT?
HHT occurs in 1 out of every 5,000 to 10,000 individuals.

How is HHT diagnosed?
A diagnosis of HHT is made based upon a detailed patient and family history, a thorough clinical examination, and imaging studies to identify characteristic findings in organs.

Is there any specific gene/pathway in HHT that has been identified?
Genetic testing to determine any mutations in the ENG, ACVR1, SMAD4, RASA1 or BMPR9 genes can be helpful to confirm a diagnosis of HHT.

How is HHT treated?
Since symptoms of HHT vary, treatment is directed toward the specific symptoms of each patient. More information on treatment may be found here: https://rarediseases.org/rare-diseases/hereditary-hemorrhagic-telangiectasia/

Are there any clinical trials underway for HHT?
The National Institutes of Health (NIH) has completed 58 clinical trials for HHT. Currently, there are 20 clinical trials underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/ct2/results?cond=Hereditary+Hemorrhagic+Telangiectasia&Search=Apply&recrs=b&recrs=a&recrs=f&recrs=d&age_v=&gndr=&type=&rslt=

How can RareShare be helpful to HHT patients and families?
The HHT community has 1 member. There are currently 0 active discussions underway. New discussions can help to connect patients, health workers, caregivers and families interested in HHT and provide them continual access to community resources.