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Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic condition that causes bleeding due to blood vessels that did not develop correctly. HHT causes arteriovenous malformations (AVMs) — tangled connections between arteries and veins. AVMs can affect different organs, 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.
Due to the complex nature of hereditary hemorrhagic telangiectasia, most patients 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 specialists have the resources and expertise to provide advanced and comprehensive care.
An individual is considered to have HHT if three of the four following conditions are met:
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:
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.
HHT Foundation International, Inc.
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