Hereditary hemorrhagic telangiectasia (HHT) care

Hereditary hemorrhagic telangiectasia (HHT) is a genetic blood vessel disorder that can significantly affect your daily life and health. The blood vessels of people with HHT are fragile and prone to leaking, causing excessive nosebleeds and even internal bleeding. Effects can worsen with age, and severe cases can be life-threatening. Despite its risks, awareness of HHT remains limited.

Penn Medicine’s HHT program is recognized as a Center of Excellence by Cure HHT, meaning we are among a select few centers in North America acknowledged for our expertise, coordinated care, and ongoing research efforts in managing HHT. Our team cares for more than 200 people with HHT 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. Early HHT diagnosis and effective treatment can significantly enhance quality of life and prevent complications.

One of the advantages of getting your HHT care through a large medical system like Penn Medicine is the ease of access to all the right specialists for your condition and symptoms. Patients come to our HHT Center through various pathways. Those with a family history of HHT may start with a geneticist in our Translational Medicine and Human Genetics Program, while people with anemia might see a hematologist. Whether you seek a second opinion or want to coordinate care closer to home, we’re able to work with your needs. Our flexible, comprehensive approach allows you to connect to all your necessary care in one place. We provide:

• Accurate diagnosis: HHT can be difficult to recognize. Our multidisciplinary team combines specialized evaluations, genetic testing, and organ screenings to provide a definitive diagnosis and coordinated care.
• Collaborative care: You’ll have access to hematologists, interventional radiologists, pulmonologists, neurologists, gastroenterologists, and ear, nose, and throat specialists, all within the Penn Medicine system. We’re able to partner with specialists across various disciplines to monitor and treat complications associated with HHT, such as arteriovenous malformations (AVMs) and telangiectasia.
• Innovative treatments: Recent advancements allow us to offer more effective management strategies to improve your quality of life with HHT. We are actively involved in clinical trials and research to continue advancing HHT therapies.
• Family support: We provide evaluations for children in families with HHT and partner with the Pediatric Hereditary Hemorrhagic Telangiectasia Program at Children’s Hospital of Philadelphia for additional services.

Pioneering breakthrough HHT treatments, here and now

Advancements in systemic therapies have transformed our approach to HHT, enabling us to address multiple symptoms. To effectively treat everyone living with HHT, we’re always exploring new medications and approaches through active research and participation in clinical trials. Penn Medicine took part in the first large-scale clinical trial for HHT, which has shown promising results with the drug pomalidomide, traditionally used in the treatment of bone marrow cancer.