Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder that affects about one in 5,000 people. HHT is also known as Osler Weber-Rendu (OWR) disease.
HHT is caused by a gene mutation that creates malformed blood vessels that lack the structure and durability required to prevent bleeding. Bleeding can occur virtually anywhere, but the nose, lungs and gastrointestinal (GI) tract are most susceptible. Heavy nosebleeds are common in some patients. The disease varies in symptoms and severity from person to person. While symptoms can be treated, there is no cure. Serious complications such as stroke, brain hemorrhage and even death can be prevented with the right care.
Expert HHT Care
Our experienced, dedicated team offers the full spectrum of coordinated care, treating HHT as a chronic condition instead of an acute state. The program’s focus is on coordinating care for HHT patients age 14 and older with a variety of specialists who offer genetic counseling, diagnostic testing and treatment. Coordination also includes the patient’s primary care physician.
Our Hereditary Hemorrhagic Telangiectasia Program is the only one in Wisconsin designated as a Center of Excellence by the HHT Foundation International, Inc., and one of only a few designated in the Midwest. As a Center of Excellence, our physicians and staff are interconnected with other HHT Centers across the country, ensuring patients are receiving the latest diagnostics and treatments, including clinical trials.
Families and Children
Our program specializes in the treatment of adult HHT patients. We have a collaborative relationship with Children’s Wisconsin, partnering to have HHT care needs addressed for the whole family. To learn more about HHT care at Children’s Wisconsin, contact the Interventional Radiology Program at Children's Wisconsin.
HHT Symptoms
HHT patients have an abnormality in their blood vessels that causes them to bleed easily, even spontaneously. Most blood vessels in the body of someone with HHT are normal. However, a small percentage of the blood vessels in a person with HHT have a specific type of malformation. This can result in rupture and bleeding. When this involves small blood vessels, it is called a telangiectasia. When larger blood vessels are formed incorrectly and get tangled, it is called an arteriovenous malformation (AVM). The location of blood vessel abnormalities in the body determines what kind of symptoms patients will have.
Nosebleeds
HHT can affect the nose and cause heavy nosebleeds (the medical term for nosebleeds is epistaxis). While nosebleeds are not necessarily life-threatening, there is a quality of life issue because nosebleeds can be spontaneous, happening at any time and for no apparent reason. Nosebleeds are the most common symptom of HHT.
About 95% of people with HHT have recurring nosebleeds by the time they reach middle age. The nosebleeds generally start around age 12, but can begin as early as infancy or as late as adulthood. Some patients experience heavy nosebleeds only a few times a year. For some, heavy nosebleeds are a daily occurrence. The nosebleeds can last anywhere from a few seconds or up to several hours. The amount of blood lost may be a few drops or enough to cause anemia (low blood count). Most people with HHT fall somewhere in between these two extremes.
Skin Arteriovenous Malformation
Rupture and bleeding in the skin of the hands, face and mouth are also found in about 95% of people who have HHT. While it usually doesn’t become apparent until the patient is 30 or 40 years old, HHT appears as small red to purplish spots. These skin arteriovenous malformations can bleed, but it is less likely than those in the nose.
Malformation in the Brain, Lungs or Gastrointestinal Tract
HHT can be fatal if the AVM is in the patient’s brain, lungs or GI tract (stomach and intestines). AVMs in the GI tract do not cause pain or discomfort. Symptoms of GI bleeding are black or bloody stools and/or anemia. Anemia (low blood count) can then cause fatigue, shortness of breath, chest pain and dizziness.
Approximately 15% of HHT patients develop AVMs in the lungs. These pulmonary AVMs are at risk for rupture, which can lead to life-threatening bleeding. This is especially true during pregnancy because blood pressure and blood volume are higher. People diagnosed with pulmonary AVMs should not SCUBA dive. In addition, there is a risk for stroke or brain abscess (bacterial brain infection), which can be life threatening or disabling. To prevent brain abscesses, we recommended that patients diagnosed with pulmonary AVMs take antibiotics prior to dental cleaning and some other procedures.
Brain AVMs are less common and are found in only about 5 to 20% of the people with HHT. In most cases, these can be treated successfully, but can be life threatening or disabling if they bleed. Since there are no warning symptoms prior to a brain hemorrhage, testing for brain AVMs is recommended for anyone diagnosed with HHT.
HHT Symptoms Vary
Symptoms of HHT vary greatly, even within the same family. A parent may have horrible nosebleeds, but no AVM in an internal organ. The child may have a nosebleed only rarely, yet have AVMs in one or more internal organs. There is no way to predict how likely someone is to have one of the hidden, internal AVMs based on how many nosebleeds or skin AVMs they have.
Causes of HHT — Who’s at Risk
HHT is not an environmentally driven disease. Rather, it is based on genetics. HHT typically manifests itself in late adolescence into early adulthood. However, children can have HHT and the symptoms as well. Some patients don’t show symptoms until the age of 40. HHT does not affect any particular racial or ethnic group.
Diagnosing HHT
One advantage to choosing the Froedtert & MCW HHT Program is our state-of-the-art diagnostic and imaging capabilities.
Since HHT is hereditary, genetic testing is typically the first step to confirm HHT and identify those who should receive further screening for AVMs. AVMs may be present without symptoms.
Other diagnostic tests commonly ordered for HHT patients include:
- Bubble-enhanced echocardiogram to find AVMs in the lungs
- Brain MRI to determine the presence of AVMs in the brain
- CT scans to monitor for AVMs in other parts of the body
Since HHT is hereditary, genetic testing is typically the first step to confirming a diagnosis. It is critical that doctors have the knowledge and expertise to test for underlying symptoms and conditions that put patients at risk, including AVMs.
Treating HHT
HHT blood vessel abnormalities affect people in many different ways — from minor or heavy nosebleeds to organ damage and hemorrhaging. That’s why seeking coordinated care from a team of specialists, like those at Froedtert Hospital, is a wise choice. Treatments for HHT may include medical management, advanced cautery procedures, embolization and surgery to manage symptoms.
Enhancing Quality of Life
Many HHT patients come from great distances and have experienced limited access to care in the past. For this reason, our Hereditary Hemorrhagic Telangiectasia Program is designed to educate patients about their disease and give them and their families the tools to cope with HHT when they return home. Genetic counseling is just one of many resources we offer.
To learn more, visit hht.org. You may also benefit from the Cure HHT webinar series. Topics include nosebleed management, anemia, research, genetics, living with HHT and more.
Virtual Visits Are Available
Safe and convenient virtual visits by video let you get the care you need via a mobile device, tablet or computer wherever you are. We'll assess your condition and develop a treatment plan right away. To schedule a virtual visit, call 414-777-7700.