Hereditary Hemorrhagic Telangiectasia (HHT)

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

HHT is an autosomal dominant genetic disorder, meaning it takes only one parent with the gene to pass it on to a child. If a parent has HHT, there is a 50 percent chance that any of his or her 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.

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

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

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:

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

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 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.

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 UChicago Medicine.

HHT Foundation International, Inc.

International HHT Guidelines

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For more information or to schedule an appointment, contact our clinical coordinator at 773-702-4347.