Hereditary Hemorrhagic Telangiectasia

UCLA Health excellence in hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder that affects your blood vessels. UCLA Health is an HHT Center of Excellence as designated by Cure HHT, a leader in HHT advocacy and research. At UCLA Health, our HHT team includes the expertise of more than 10 subspecialty physicians that offer coordinated, comprehensive care for HHT. We provide the full array of screening tools, counseling services and treatment options.

Highlights of our program include:

Coordinated care: Before your first visit, we take a full medical history over the phone. If you are coming from out of town, we’ll try to set up any necessary testing in advance. During your first visit, you’ll meet with one of our program’s co-directors, who functions as your primary HHT doctor and point of contact. We then arrange all follow-up tests, procedures or referrals as needed.

Treatment from multiple specialists: Depending on your HHT symptoms, your treatment team may include care from multiple subspecialized doctors. Our team includes experts in cardiology, dermatology(Link is external), otolaryngology (ENT), gastroenterology, genetics, hematology, neurology, neurosurgery and pulmonology(Link is external). It also includes specialized radiologists, such as interventional radiologists, neuroradiologists and interventional neuroradiologists.

Recognized excellence: Our designation as a Center of Excellence with Cure HHT means we provide the full array of services to care for patients with HHT. Centers of Excellence proactively manage all their patient’s care and incorporate the expertise of multiple specialists.

Full diagnostic workups: We use established standards for diagnosing HHT, including the Curacao criteria and genetic testing. Our specialists may suspect or offer a likely diagnosis of HHT based on symptoms and family history. When needed, we can refer patients for genetic testing to confirm a diagnosis. Family members may also benefit from a genetic test to look for the specific gene mutation causing HHT.

What is hereditary hemorrhagic telangiectasia?

Hereditary hemorrhagic telangiectasia is an inherited disorder that can affect blood vessel development in multiple body organs. It’s also known as Osler-Weber-Rendu syndrome. This rare disorder occurs in about one in 5,000 people. HHT equally affects people of all genders, racial and ethnic groups.

Usually, tiny blood vessels called capillaries help transport blood between arteries and veins. People with HHT may form arteries and veins but no capillaries. Because of this, people with HHT have a higher risk of blood vessels rupturing or bleeding. People with HHT may experience complications such as:   

Cerebral arteriovenous malformations (AVMs): Irregular connections between arteries and veins in the brain, which can disrupt blood flow  

Gastrointestinal bleeding: Bleeding in the digestive tract, often in the stomach or small intestines, which can cause chronically low red blood cells (anemia)

Hepatic AVMs: Irregular connections between blood vessels in the liver, which may cause elevated liver enzymes but usually are asymptomatic in people with HHT

Nosebleeds: Recurrent blood loss from the nasal tissue, occurring in 95% of people with HHT

Pulmonary AVMs: Atypical connections between the pulmonary vein and pulmonary artery, resulting in blood bypassing the lungs before circulating to the rest of the body

HHT treatments we offer

Treatment for hereditary hemorrhagic telangiectasia can vary, depending on what symptoms you experience and how severe they are. In general, your treatment plan may focus on reducing bleeding or lowering your risk of complications from AVMs. We may offer:

Medications: Some patients benefit from medicines that block the growth of blood vessels or slow the disintegration of blood clots. Patients who develop anemia may also need iron supplementation through intravenous (IV) treatments.

Nasal surgery: We may offer procedures that help reduce the frequency and severity of nosebleeds. Our surgeons may offer ablation, using laser energy to block the blood vessels causing nosebleeds. We may also use skin grafts to replace tissue inside the nose.

Brain, liver or lung treatments: Patients with AVMs in the brain, liver or lungs may benefit from treatments to remove or destroy the AVMs. We may perform embolization, which uses a long, hollow tube (catheter) to place a plug or coil inside the AVM so that blood no longer flows to it. Or we may use stereotactic radiotherapy, a procedure in which focused beams of radiation shrink or destroy the AVM. In other cases, we may surgically remove the AVM, and in extreme, rare cases, some patients may need a liver transplant.

Our expert team

Our team specializes in HHT treatment, offering multispecialty, research-driven care. We offer extensive testing and treatment options to help patients with HHT improve their quality of life and overall health.

Contact us

Call 310-481-7545(Link opens phone app) to request an appointment with a hereditary hemorrhagic telangiectasia specialist at UCLA Health.