Hereditary hemorrhagic telangiectasia (HHT) is a blood vessel disorder that can interfere with your daily life and even threaten your health. Despite these risks, awareness of this inherited condition remains limited.
The specialized HHT team at Penn Medicine cares for more than 200 people with the condition each year. Whether you need annual checkups for mild disease or more frequent care, we can help. We can also provide an initial evaluation if you have a family history of HHT or warning signs such as severe nosebleeds.
Why Choose Penn Medicine for HHT Care?
We’re considered a Center of Excellence by Cure HHT, the main advocacy group for hereditary hemorrhagic telangiectasia. A limited number of North American centers hold this distinction, which recognizes our expertise, coordinated care, and research. We continue to work closely with Cure HHT to improve care.
Unlike other inherited blood disorders, HHT frequently isn’t diagnosed until adulthood, when symptoms can worsen. We provide all the care you need at our HHT Center of Excellence, established in 2003.
When you choose our HHT center, you can expect:
- Expert medical team: Like other areas of focus at Penn Hematology, our program reflects a high degree of expertise. The hematologists (blood doctors) in our program are leaders in HHT care. They’re joined by experienced geneticists, interventional radiologists, and nurses. Learn more about the providers who treat HHT at Penn Medicine.
- Partnerships with other specialists: Thorough HHT care requires a range of specialties to protect your health. We partner with other top doctors at Penn to watch for complications and treat them. This care includes identifying potentially problematic tangles of blood vessels called arteriovenous malformations (AVMs).
- Diagnostic insight: Doctors without HHT expertise may misdiagnose the condition. We recognize the signs that can confirm HHT. Though common genetic testing can identify the changes most frequently responsible, we can dig deeper when needed.
- Latest approaches: Recent advances have made HHT very treatable, with more options to improve quality of life and protect overall health. We can offer more effective ways to prevent telangiectasia from bursting, for example. Caused by poorly formed blood vessels, these red spots can lead to frequent nosebleeds and gastrointestinal bleeding.
- Family support: While HHT mainly causes symptoms in adults, it can sometimes affect children and require care. If HHT runs in your family, you may also wish to have your children tested. We partner with the Comprehensive Vascular Anomalies Program at Children’s Hospital of Philadelphia for some of these services.
- Flexibility with care: We work around your needs. We welcome people seeking second opinions. We can also coordinate with doctors closer to home for some of your care. Rather than doing all of your appointments at Penn Medicine, you can come just for checkups with specialists or more specialized treatments.
- Innovation: We’re helping answer questions about HHT and develop additional therapies. Learn more about our clinical trials for HHT.
Starting HHT Care at Penn Medicine
People start their HHT care at Penn in various ways. If you have a family history of HHT, you may see a geneticist in our Translational Medicine and Human Genetics Program first. If you have anemia, another HHT complication tied to blood loss and low iron, you may see a hematologist. And if you have a confirmed diagnosis, you may see someone specializing in the lungs or brain to address any AVMs.
Regardless of the situation, we make sure you see the right team member for the care you need.
For families with a history of HHT, we recommend an expert evaluation. HHT can not only interfere with quality of life, but also potentially harm your health. Thanks to advances, we can now offer effective, preventive steps once you have a confirmed diagnosis.
Evaluation and Initial Treatment for Hereditary Hemorrhagic Telangiectasia
Some people experience serious HHT symptoms so frequently that it can burden their daily lives. Others experience just mild symptoms, or no symptoms at all. Even without symptoms, you still need care from a range of specialists to watch for other potential challenges.
At Penn, we work to protect your health and minimize the burden on your life. We’re well-equipped to handle the two main groups of HHT complications:
Telangiectasia Management and HHT
Frequent, severe nosebleeds from ruptured telangiectasia in the nose are the most frequent HHT complication, affecting up to 90 percent of people with the condition. These nosebleeds can interfere with daily life. Up to 80 percent of people with HHT also have telangiectasia in their intestines or stomachs — while these blood vessels can also bleed, they do so less often.
Together, leaking nasal and gastrointestinal telangiectasia can cause the most blood loss with HHT. Prolonged, significant blood loss can eventually cause further problems. The body may not be able to keep up with blood cell replacement or might lose too much of the iron it needs.
These complications make it crucial to monitor iron levels and perform a test called a complete blood count (CBC) on a regular basis. Our team may also recommend:
- Lifestyle adjustments: You can use humidifiers or creams to keep the inside of your nose from getting too dry.
- Iron supplements: While people who need iron usually just need pills, some may require injections.
- Blood transfusions: Some people may need transfusions of red blood cells from donated blood.
- Interventions by other specialists: In certain cases, Penn Medicine ear, nose, and throat specialists can try to treat telangiectasias. In the intestines or stomach, gastroenterologists can perform minimally invasive procedures with the same goal. Unfortunately, even with successful treatment of one location, patients may need repeat procedures.
Telangiectasias frequently develop in the skin, too. In the unlikely event that they bleed, Penn Medicine dermatologists can help. They can also treat these blemishes if you’re concerned about their appearance.
AVM Management and HHT
Most AVMs that result from HHT are present at birth, and many never lead to trouble. Others, however, cause problems because of their location or their potential to rupture after growing or weakening over time.
AVMs from HHT are found in the:
- Lungs: Up to 40 percent of people have pulmonary AVMs, or AVMs in the lungs. These can cause shortness of breath. They also pose the greatest danger, as they can allow blood clots to travel to the brain and cause a stroke. We make sure people with HHT get imaging to look for lung AVMs. Our interventional radiologists then destroy them using a procedure called embolization.
- Liver: Liver AVMs from HHT are more common, but are also less likely to cause complications. Some can strain the heart when they cause extra work to supply blood. Our team includes a cardiologist specializing in HHT who watches for this complication.
- Brain: While less common with HHT, AVMs in the brain can rupture. We screen for these tangled blood vessels with MRI and work with neurologists to provide treatment.
Treating HHT With Medications
The development of newer therapies has changed our approach to HHT, giving us the chance to treat the whole body rather than one spot at a time. Doing so can help people who have continued problems with telangiectasias. It may also help people who need repeat transfusions and those with severe nosebleeds that interfere with daily life.
Additional systemic therapies are likely on the way. Current options include:
- Tranexamic acid: These pills slow the breakdown of blood clots, to help stem bleeding.
- Bevacizumab: This intravenous drug helps prevent the development of new, poorly formed blood vessels.
Clinical Trials for HHT
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 potentially reduce bleeding and the development of compromised blood vessels.
Make an Appointment
Please call 800-789-7366 or make an appointment.