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Hereditary Hemorrhagic Telangiectasia (HHT)

HHT Center of Excellence

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Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic condition characterized by bleeding due to blood vessels that did not develop correctly. A type of vascular anomaly, HHT causes arteriovenous malformations (AVMs) -- tangled connections between arteries and veins. AVMs can affect different organ systems, including the gastrointestinal system, skin, lungs, liver and brain. Complications from arteriovenous malformations range in severity from discoloration of the skin to bleeding and disruption of normal organ function.

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Coordinated Care, Integrated Approach

Due to the complex nature of hereditary hemorrhagic telangiectasia, most patients with this condition require coordinated care by experts in many specialties. At the University of Chicago Medicine, we take an integrated, multidisciplinary approach to the diagnosis, evaluation and treatment of individuals with HHT. Whether a patient needs genetic screening or a complex procedure, our team of more than a dozen specialists has the resources and expertise to provide advanced and comprehensive care.

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HHT Signs and Symptoms

Nosebleeds during childhood are typically the first sign of hereditary hemorrhagic telangiectasia. Small, spider-like blood vessels on the lips, as well as on the skin of the nose and fingers also are common symptoms of HHT. Depending on which organ systems are affected, other symptoms may include: gastrointestinal bleeding (intestines), shortness of breath (lungs), internal bleeding (Iiver), and headaches, seizures or stroke (brain).

Hereditary hemorrhagic telangiectasia is an autosomal dominant genetic disorder, meaning it takes only one parent with the gene to pass it on to a child. If a patient has HHT, there is a 50 percent chance that any of their children will inherit the disease. Multiple genes have been identified as having involvement in this disease, including a gene that also causes polyps in the colon or potentially, colon cancer.

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HHT Diagnosis

An individual is considered to have HHT if three of the four following conditions are met:

  1. Spontaneous, recurrent nose bleeds (epistaxis)
  2. Small dilated blood vessels (telangiectasia) at characteristic sites: lips, mouth, finger, and nose
  3. Telangiectasia in the gastrointestinal tract and/or larger AVMs in the lungs, liver or brain
  4. Family history including a first degree relative with HHT

If two of the four above conditions are met, then HHT is considered a possible diagnosis.

The following diagnostic tests may be used to confirm HHT:

  • Genetic testing
  • Advanced MRI and CT imaging
  • Doppler ultrasound
  • Liver biopsy
  • Cerebral angiography
  • Pulmonary angiography

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Treatment for Hereditary Hemorrhagic Telangiectasia

While there is no cure for HHT, the symptoms can be treated. Our services include:

  • Laser treatment and other interventions to reduce the number of lesions on the skin
  • Endonasal coagulation and mucosal flaps for cases of recurrent nosebleeds
  • Endovascular embolization, a minimally invasive procedure performed to stop excessive nosebleeds or to block vascular malformations in the lungs, liver or the brain
  • Neurovascular surgery to remove arteriovenous malformations from the brain and focused radiation (stereotactic radiosurgery) to promote blockage of arteriovenous malformations
  • Procoagulants to help control active bleeding and hormonal therapies that may stabilize blood vessels
  • Treatment for anemia resulting from recurrent bleeds

Some medications (to prevent new blood vessels from developing) are being investigated in clinical trials. The effectiveness of these medicines is not yet determined.

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Scheduling an Appointment

For more information or to make an appointment, please call (773) 834-5210.

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Preparing for Your Appointment

Upon contacting us, you will be asked several questions related to your symptoms and prior treatment. Please have on hand the names and addresses of your current physicians as well as dates and results of any previous imaging scans, procedures and/or testing. Our medical director will review your case and decide which specialist will manage your care. If indicated, additional testing (such as CT and MRI scans) may be arranged at this time.

If you experience acute bleeding or other emergency, we will work with your local physician or emergency room to arrange urgent transfer to the University of Chicago Medicine.

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External Patient Resource/Support Group

HHT Foundation International, Inc.

The University of Chicago Medicine and Comer Children's Hospital provide links to other organizations as a service to our site visitors. We are not responsible for information or services provided on other websites.

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More Information

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Zeena Darji, RN
Clinical Coordinator

Transfer Center
In case of emergency, physicians should call the Transfer Center to coordinate transfer to the appropriate service at the University of Chicago Medicine.