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Hereditary Hemorrhagic Telangiectasia (HHT) Symptoms

UPMC Content 3

HHT may manifest differently among different families, and even in different people within the same family.

The age when people begin having HHT symptoms varies. Most experience some symptoms by the age of 20, and almost all affected individuals will have some signs or symptoms by the age of 50.

Contact Us

To make an appointment or refer a patient, call the HHT Center of Excellence at 412-648-6161,
or email us at PittHHT@upmc.edu.

Please let us know if the patient is under 18 so we can schedule care at UPMC Children's Hospital of Pittsburgh.

Common Signs and Symptoms of HHT

The most common HHT symptoms include:

  • Nosebleeds: Greater than 90% of people with HHT have recurrent nosebleeds that can range from mild to very severe. Nosebleeds occur when nasal telangiectasias rupture.
  • Visible telangiectasias: These often occur on the fingertips, lips, and tongue. They look like small red dots. When you put pressure on them, they turn white since pressure prevents the high-flow blood from moving through the malformation.

Less Common Signs and Symptoms of HHT

Some rare, but very serious, complications of HHT include:

  • Fatigue, shortness of breath: Some people with HHT may experience these symptoms because they have anemia — due to blood loss from nasal and/or gastrointestinal telangiectasias. The presence of lung arteriovenous malformations (AVMs) can also cause fatigue and shortness of breath.
  • Blood in stool: Ruptured telangiectasias in the stomach and intestines can cause blood in the stool.
  • Anemia: Anemia is a frequent complication of HHT owing to the prevalence of epistaxis and GI bleeding. Iron supplementation (either oral or intravenous) is the first-line therapy for this blood-loss anemia. In more severe cases, transfusion (sometimes frequent) is required.

Complications of HHT

  • Stroke:  Ruptured brain AVMs may result in hemorrhagic (bleeding) stroke. Lung AVMs can result in embolic stroke. This happens when a blood clot — that the small lung capillaries normally trap — passes into lung veins, via an AVM, and then lodges in and blocks small vessels in the brain.
  • Brain abscess: This can occur when bacteria — that the lung capillaries normally filter out of circulation — passes through lung AVMs and into the brain, causing an infection.
  • Heart Failure: This is a possible long-term effect of liver AVMs.

Additional Resources

Opens the Cure HHT websiteVascular Medicine Institute at the University of PittsburghUniversity of Pittsburgh Human Genetics Public Health Program
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