Hereditary Hemorrhagic Telangiectasia (HHT) Program
Expert care for HTT
Hereditary hemorrhagic telangiectasia (HHT) is a genetic blood vessel disorder that can significantly impact your daily life and health. Despite its risks, awareness of HHT remains limited. At Penn Medicine, our specialized HHT team cares for over 200 individuals each year, offering everything from annual check-ups for mild cases to more frequent assessments for those with severe symptoms. If you have a family history of HHT or experience warning signs like frequent nosebleeds, we can provide an initial evaluation.
Your partner in HHT management
Recognized as a Center of Excellence by Cure HHT, we are among a select few centers in North America acknowledged for our expertise, coordinated care, and ongoing research efforts in managing HHT. Our comprehensive approach ensures that you receive all the necessary care in one place:
- Expert medical team: Our hematologists and specialists in genetics, interventional radiology, and nursing are leaders in HHT care, ensuring you receive top-notch treatment.
- Collaborative care: We partner with specialists across various disciplines to monitor and treat complications associated with HHT, such as arteriovenous malformations (AVMs).
- Accurate diagnosis: We provide accurate assessments that can confirm HHT, minimizing the risk of misdiagnosis.
- Innovative treatments: Recent advancements allow us to offer more effective management strategies for telangiectasia, improving your quality of life.
- Family support: We provide evaluations for children in families with HHT and partner with the Comprehensive Vascular Anomalies Program at Children’s Hospital of Philadelphia for additional services.
- Flexible care options: Whether you seek a second opinion or wish to coordinate care closer to home, we work around your needs.
- Cutting-edge research: We are actively involved in clinical trials and research to advance HHT therapies.
Starting your HHT care
Patients come to our HHT Center through various pathways. Those with a family history may start with a geneticist in our Translational Medicine and Human Genetics Program, while individuals with anemia might see a hematologist. We ensure you are connected to the right specialists for your needs.
For families with HHT histories, we recommend comprehensive evaluations. Early diagnosis and effective treatment can significantly enhance quality of life and prevent complications.
Some individuals experience severe symptoms, while others may have mild or no symptoms. Regardless, ongoing care from specialists is essential to monitor for potential challenges.
At Penn, we focus on two main types of HHT complications:
- Telangiectasia management: Frequent, severe nosebleeds affect up to 90% of HHT patients and can disrupt daily life. We monitor iron levels regularly and may recommend lifestyle changes, iron supplements, or blood transfusions. For severe cases, our specialists can provide minimally invasive interventions.
- AVM management: While many AVMs are benign, those located in the lungs, liver, or brain require careful monitoring. We employ imaging techniques and collaborate with interventional radiologists to manage these complications effectively.
Advancements in systemic therapies have transformed our approach to HHT, enabling us to address multiple symptoms. Current treatment options include:
- Tranexamic acid: Pills that help slow the breakdown of blood clots to reduce bleeding.
- Bevacizumab: An intravenous drug that prevents the formation of poorly structured blood vessels.
We also participate in clinical trials to explore new treatments, including a trial sponsored by the National Institutes of Health investigating the efficacy of pomalidomide in reducing bleeding and compromised blood vessels.
Unfortunately, current systemic therapies don’t work for everyone with HHT. Along with other centers, we’re trying to determine why that happens and develop additional therapies.
We’re participating in the first clinical trial for HHT sponsored by the National Institutes of Health. It looks at a drug called pomalidomide, given as a capsule to to potentially reduce bleeding and the development of compromised blood vessels.
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