What is HHT?
Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder of the blood vessels. It is also known as Osler-Weber-Rendu. It is characterized by blood vessles that are missing normal capillary connections between arteries and veins. Blood vessels missing connections are divided into two categories:
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Telangiectasia The word telangiectasia tends to be used if the abnormal blood vessel is small (pinpoint to pinhead size).
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Arteriovenous malformation (AVM) AVM is used if the abnormal blood vessel is bigger.
HHT can affect blood vessels in several different areas:
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Nose
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Mouth
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Skin of the face and hands
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Intestines
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Lungs
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Liver
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Brain
HHT affects both males and females in equal numbers. It almost always affects multiple generations of a family
HHT Symptoms
The most common symptom of HHT is nose bleeds. Almost everyone with HHT eventually develops small red spots on their face, hands, lips or mouth.
Find an HHT Specialist
HHT Diagnosis
You may be diagnosed with HHT if you have three or more symptoms:
- Reocurring nosebleeds
- Telangiectasia (multiple) on the hands, mouth, or face
- AVM/telangiectasia of the lungs, brain, liver, or lining of the intestine
- A parent, sibling, or child with HHT
Most doctors aren’t familiar with the signs and symptoms of HHT. We have particular experience and expertise in recognizing the sometimes subtle, but unique features of HHT. By combining a physical exam, medical and family history with genetic testing (as needed), we can accurately diagnose HHT.
HHT Treatment
You and your provider will discuss the best treatment plan for your needs.
Nosebleed Treatment
The method used to treat nosebleeds depends on how severe and frequent your nosebleeds are. In addition, your provider will evaluate the appearance of telangiectasia in your nose and your past treatment experience. Our ear, nose and throat (ENT) physicians treat nosebleeds with a variety of surgical and non-surgical methods.
Telangiectasia of the Skin or Mouth Treatment
Usually, no treatment is needed. However, if you are bothered by your telangiectasia either cosmetically or due to bleeding, they can be treated by laser therapy.
Intestinal Bleeding Treatment
Bleeding inside the intestine from telangiectasia is less common than usually assumed and rarely occurs before age 60.
We recommend treatment if you are experiencing anemia. Treatment focuses on iron replacement to correct the anemia, but other treatments, such as cautery/laser ablation and drug therapy are available if your anemia isn’t corrected by iron replacement therapy alone.
Brain AVMS Treatment
About one in 10 individuals with HHT have a brain AVM. About half of these will result in a brain hemorrhage over a lifetime if not detected and treated. These hemorrhages usually occur without prior warning signs. The consequence is often death or disability. Since the hemorrhages often take place very early in life, we recommend screening during a child's first year. If detected, most brain AVMs can be safely treated by stereotactic radiosurgery, embolization, or surgery.
Lung AVMS Treatment
Lung AVMs are the most common cause of severe and sudden harm to individuals with HHT. Most often lung AVMs do not cause harm by bleeding, but reduce the ability of the lungs to filter blood from clots or clumps of bacteria as it circulates through the body. This filtering of impurities of the blood after each trip around the body is an important function of the lungs. Because blood clots and clumps of bacteria are less likely to be filtered from the blood, individuals with AVMs in their lungs are more likely to have (clot type) strokes and brain abscess. These can be prevented if lung AVMs are detected and treated before they cause symptoms.
Lung AVMs are treated by a non-surgical procedure called embolization. This procedure uses catheters to remove lung AVMs by blocking off their blood flow.
Liver AVMS Treatment
Although liver arteriovenous malformations are common in HHT, they almost never rupture and bleed. Treatment is rarely needed unless the heart is adversely affected by the resulting extra blood flow.
When needed, treatment with an anti-angiogenesis drug is most common.
HHT Testing
HHT Center of Excellence
The HHT Center at University of Utah Health was established in 1995 to offer comprehensive care for HHT. We offer expert, specialized treatment for the many and varied manifestations of HHT. Find location information and directions as well as hours for the HHT Center.
We also provide help with travel logistics and insurance authorizations, since most patients travel to our clinic from out-of-state. We carefully coordinate visits to assure thorough, efficient care, tailored to the medical needs of each individual. In order to appropriately schedule your visit, we obtain essential medical information about you by phone or email, as well as request previous relevant medical reports and records.
Diagnosis, screening, and treatment are provided in a multi-specialty setting. DNA blood testing is performed in our molecular genetics laboratory (ARUP).
Most patients can have the consultation(s) and tests, recommended in their specific case, done during a one day visit to our center. Patients who need multiple treatments and consultations may have their appointments scheduled over several days.
Medical Screening
We recommend certain preventive screening tests for all our patients with HHT. The screening aims to detect AVMs that might cause a major medical complication if not detected. It is important to know that even though you might have sever nosebleeds and/or external telangiectasia, that does not mean you will have internal organ AVMs (lungs, brain, or liver). We have many patients with lung and/or brain AVMs whose nose bleeding is minor.
For this reason we recommend a few routine screening tests for our patients with HHT, regardless of their nosebleed severity. We regularly recommend and perform these tests:
- Contrast echocardiogram (or echo bubble), to screen for lung AVMs and symptomatic liver AVMs
- Brain MRI, to screen for brain AVMs
- CT scans of the lungs or liver, dependent on what is seen in the echocardiogram
- Labs
The exact tests and specialist consultations we schedule during your visit to our HHT Center depend on your age, past symptoms, past medical screening, and past treatments.
Genetic Testing & Counseling For Families With Hereditary Hemorrhagic Telangectasia (HHT)
The University of Utah Health HHT Center offers comprehensive genetic counseling and testing for HHT families. HHT is caused by a mutation in one of multiple genes. Although each HHT family has its own private HHT-causing gene mutation, the exact same mutation always causes HHT within a given family. Knowing your particular family’s gene mutation can be helpful for two reasons:
- The genetic subtypes of HHT have some clinical differences; knowing these can be helpful when making medical screening recommendations for an HHT patient or family.
- It allows for the possibility of pre-implantation genetic diagnosis, prenatal diagnosis, and/or diagnostic testing for HHT on a blood sample at or soon after birth for members of an HHT family.
Contact Us
If you are interested in HHT genetic testing, please call 801-585-0250.
Research
The faculty at the University of Utah Health HHT Center are actively involved in research to help understand the underlying causes of HHT, as well as the optimal management and treatment of the disorder. We discuss available research studies with our patients.
