Hereditary Hemorrhagic Telangiectasia (HHT)

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

Cure HHT Center of Excellence

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.

Coordinated Care, Integrated Approach

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.

Signs & Symptoms

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.

Diagnosis

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

Treatment

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.

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 UChicago Medicine.

External Patient Resource/Support Group

Contact Us

Expedited patient transfer, urgent transfers and consultations

If you are a healthcare provider and wish to transfer a patient with a neurologic emergency or to speak with our team directly, call our dedicated NeuroICU transfer line at 1-773-834-6742. It will be answered by an attending neuro-intensivist, addressing ischemic stroke, brain bleeding, status epilepticus, neurotrauma, hydrocephalus, tumors and other neurologic emergencies.

If requested, we will facilitate seamless transfer and make arrangements for bed assignment

To schedule a consultation for a less urgent neurovascular condition, call us at:

Stroke Neurology: 773-702-6222
Neurovascular Surgery: 773-702-2123
Neurointerventional Surgery: 773-702-5004

Transfer Center

Meet Our HHT Team

At UChicago Medicine, our integrated, multidisciplinary team of adult and pediatric experts evaluates patients and coordinates care for hereditary hemorrhagic telangiectasia (HHT).

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

Our HHT team is led by:

Kenneth Cohen, MD and Michael Earing, MD

Kenneth Cohen, MD

Hematology and Oncology (Cancer)

Michael Earing, MD

Cardiology (Heart Care)

Issam A. Awad, MD

Neurocritical Care

Ruba K. Azzam, MD, MPH

Pediatric Gastroenterology

Fuad Baroody, MD

Otolaryngology (ENT)

Elizabeth A. Blair, MD

Endocrine Surgery

Our HHT Clinical Coordinator:

Zeena Darji, MSN, RN, HHT Clinical Coordinator

Zeena Franklin, MSN, RN

Request an Appointment

We are currently experiencing a high volume of inquiries, leading to delayed response times. For faster assistance, please call 1-888-824-0200 to schedule your appointment.

If you have symptoms of an urgent nature, please call your doctor or go to the emergency room immediately.

Learn more about our specialists and schedule an appointment instantly through our online scheduling portal.

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