This year, thanks to COVID-19, the European Hematology Association (EHA) took their annual conference online – but that didn’t prevent some intriguing new insights and ideas. In a press release, the EHA announced that a potential therapeutic option was discovered for the treatment of hereditary hemorrhagic telangiectasia (HHT), or Osler-Weber-Rendu disease. Despite HHT being the 2nd most common genetic bleeding disorder, there are little to no treatments.
In his presentation, Dr. Hanny Al-Samkari discussed the study which discovered this therapy (bevacizumab). Prior to his study, many patients with HHT required blood or iron transfusions; in many cases, this was their only treatment option.
Patients with HHT usually have excessively high levels of a protein called vascular endothelial growth factor (VEGF). As a result, researchers decided to look at existing drug therapies that target VEGF. The InHIBIT-Bleed study explored the impact of one of these drugs, bevacizumab, on 238 patients for 12 months.
Ultimately, bevacizumab was well-tolerated and safe. There were some side effects, including proteinuria (excess protein in the urine), fatigue, and high blood pressure. However, none were serious or fatal. On a better note, bevacizumab highly improved patient outcomes:
- 82% reduction in patients needing blood transfusions
- 70% reduction in patients needing iron infusions
Hereditary Hemorrhagic Telangiecstasia (HHT)
Hereditary hemorrhagic telangiecstasia (HHT) is a hereditary blood disorder that impacts blood vessels and results in excessive bleeding. Although it can be caused by a spontaneous genetic mutation, it is most often inherited from parents in an autosomal dominant pattern. This means that patients only need to inherit one gene mutation to develop the disorder. As a result, a child born to an affected parent has a 50% chance of developing HHT.
Symptoms of HHT include:
- Intense and recurring nosebleeds
- Gastrointestinal bleeding
- Headaches
- Shortness of breath
- Iron-deficiency anemia
- Seizures
- Telangiecstaes or arteriovenous malformations (AVMs), deformed or poorly developed blood vessels
- These can also form on the brain, lungs, liver, and intestines. This presents potential complications, as the vessels can rupture and cause internal bleeding.
Learn more about HHT.
