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What Is Hereditary Hemorrhagic Telangiectasia (HHT)?

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a genetic disorder that affects the blood vessels throughout the body. The condition prevents small arteries and veins from properly connecting, leading to the formation of abnormal, fragile blood vessels called telangiectasias (small clusters of blood vessels) and larger defects called arteriovenous malformations (AVMs). These fragile vessels can easily rupture and bleed.

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What Is Hereditary Hemorrhagic Telangiectasia (HHT)?

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a genetic disorder that affects the blood vessels throughout the body. The condition prevents small arteries and veins from properly connecting, leading to the formation of abnormal, fragile blood vessels called telangiectasias (small clusters of blood vessels) and larger defects called arteriovenous malformations (AVMs). These fragile vessels can easily rupture and bleed.

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Symptoms and Affected Areas

The two most common symptoms are directly connected to the fragile vessels and usually start in childhood:

  1. Frequent Nosebleeds (Epistaxis): Almost everyone with HHT gets chronic, sometimes severe, nosebleeds because of the telangiectasias inside the nasal lining.
  2. Red Spots on Skin and Membranes: Small, bright red or purple spots, which are telangiectasias, appear on the lips, inside the nose and mouth, and on the fingertips. HHT can also cause dangerous bleeding or AVMs in major organs like the brain or lungs.

The Danger of AVMs in Organs

HHT is usually diagnosed based on specific criteria, including frequent nosebleeds, visible telangiectasias, internal AVMs, and a family history. Screening for AVMs in the lungs and brain is essential because these can rupture and cause life-threatening bleeds or strokes. Treatment is focused on managing symptoms and preventing complications, often involving procedures to seal off or remove dangerous AVMs and therapies to control bleeding, such as iron supplements for chronic blood loss.

Genetic Counseling and Outlook

HHT is inherited, so genetic testing and counseling play a central role for affected families, especially when planning children. Although HHT is lifelong, outcomes have improved thanks to routine screening for internal AVMs in the lungs and brain, along with timely treatment. Regular check-ups support long-term management and help reduce the risk of severe complications.

Call Your Doctor Now

If you have frequent, severe, or recurrent nosebleeds, visible small red spots (telangiectasias), or a known family history of HHT, you must see a specialist immediately. Early screening for AVMs in the lungs, brain, and liver is vital for preventing life-threatening complications like stroke and internal bleeding.

Frequently Asked Questions About Hereditary Hemorrhagic Telangiectasia (HHT)

Is HHT curable?

No. As a genetic disorder, HHT is not curable, but it is manageable. Treatment focuses on preventing bleeding, controlling symptoms like anemia, and monitoring for AVMs in major organs.

Is HHT common?

No. HHT is a rare disease, affecting an estimated 1 in 5,000 to 8,000 people, though it is often underdiagnosed.

Can HHT cause strokes?

Yes. AVMs in the brain are a serious complication of HHT. These abnormal vessel structures are fragile and can rupture, leading to bleeding in the brain, which can cause a stroke.