Learn About Hereditary Hemorrhagic Telangiectasia

What is the definition of Hereditary Hemorrhagic Telangiectasia?

Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding.

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What are the alternative names for Hereditary Hemorrhagic Telangiectasia?

HHT; Osler-Weber-Rendu syndrome; Osler-Weber-Rendu disease; Rendu-Osler-Weber syndrome

What are the causes of Hereditary Hemorrhagic Telangiectasia?

HHT is passed down through families in an autosomal dominant pattern. This means the abnormal gene is needed from only one parent in order to inherit the disease.

Scientists have identified four genes involved in this condition. All of these genes appear to be important for blood vessels to develop properly. A mutation in any one of these genes is responsible for HHT.

What are the symptoms of Hereditary Hemorrhagic Telangiectasia?

People with HHT can develop abnormal blood vessels in several areas of the body. These vessels are called arteriovenous malformations (AVMs).

If they are on the skin, they are called telangiectasias. The most common sites include the lips, tongue, ears, and fingers. The abnormal blood vessels can also develop in the brain, lungs, liver, intestines, or other areas.

Symptoms of this syndrome include:

  • Frequent nosebleeds in children
  • Bleeding in the gastrointestinal tract (GI), including loss of blood in the stool, or dark or black stools
  • Seizures or unexplained, small strokes (from bleeding into the brain)
  • Shortness of breath
  • Enlarged liver
  • Heart failure
  • Anemia caused by low iron
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What are the current treatments for Hereditary Hemorrhagic Telangiectasia?

Treatments may include:

  • Surgery to treat bleeding in some areas
  • Electrocautery (heating tissue with electricity) or laser surgery to treat frequent or heavy nosebleeds
  • Endovascular embolization (injecting a substance through a thin tube) to treat abnormal blood vessels in the brain and other parts of the body

Some people respond to estrogen therapy, which can reduce bleeding episodes. Iron may also be given if there is a lot of blood loss, leading to anemia. Avoid taking blood-thinning medicines. Some drugs that affect blood vessel development are being studied as possible future treatments.

Some people may need to take antibiotics before having dental work or surgery. People with lung AVMs should avoid scuba diving to prevent decompression sickness (the bends). Ask your provider what other precautions you should take.

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What are the support groups for Hereditary Hemorrhagic Telangiectasia?

More information and support for people with HHT disorder and their families can be found at:

  • Cure HHT -- curehht.org/
  • National Organization for Rare Disorders -- rarediseases.org/rare-diseases/hereditary-hemorrhagic-telangiectasia/
What is the outlook (prognosis) for Hereditary Hemorrhagic Telangiectasia?

People with this syndrome can live a completely normal lifespan, depending on where in the body the AVMs are located.

What are the possible complications of Hereditary Hemorrhagic Telangiectasia?

These complications can occur:

  • Heart failure
  • High blood pressure in the lungs (pulmonary hypertension)
  • Internal bleeding
  • Shortness of breath
  • Stroke
When should I contact a medical professional for Hereditary Hemorrhagic Telangiectasia?

Call your provider if you or your child has frequent nose bleeds or other signs of this disease.

How do I prevent Hereditary Hemorrhagic Telangiectasia?

Genetic counseling is recommended for couples who want to have children and who have a family history of HHT. If you have this condition, medical treatments can prevent certain types of strokes and heart failure.

Circulatory system
Arteries of the brain
What are the latest Hereditary Hemorrhagic Telangiectasia Clinical Trials?
A Randomised, Placebo Controlled, Double Blind, Multicentre Proof of Concept Study to Assess the Safety and Efficacy of Two Doses of VAD044 in Patients With Hereditary Hemorrhagic Telangiectasia (HHT)

Summary: The purpose of this Phase 1b proof of concept study, randomised, placebo controlled, double blind, multicentre study is to asssess safety and efficacy of 2 doses of VAD044 in adult HHT patients

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Hereditary Hemorrhagic Telangiectasia (HHT) Research Outcomes Registry

Summary: The goal of this study is to better understand HHT, the symptoms and complications it causes (outcomes) and how the disease impacts people's lives. The investigators are aiming to recruit and gather information together in the Registry from 1,000 HHT patients from four HHT Centres of Excellence in North America. The Investigators will collect long-term information about the people in the Registry,...

What are the Latest Advances for Hereditary Hemorrhagic Telangiectasia?
Randomized, double-blind, placebo-controlled, crossover trial of oral doxycycline for epistaxis in hereditary hemorrhagic telangiectasia.
Osler's disease - a disease with a wide variety of clinical manifestations deserving multidisciplinary competence.
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Not Your Typical Nosebleed: A Case Report and Personal Account of a Patient With Osler-Weber-Rendu Syndrome.
Who are the sources who wrote this article ?

Published Date: May 02, 2021
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Centers for Disease Control and Prevention website. Blood disorders: facts about hereditary hemorrhagic telangiectasia (hht). www.cdc.gov/ncbddd/hht/. Updated October 27, 2020. Accessed June 11, 2021.

Cappell MS, Lebwohl O. Hereditary hemorrhagic telangiectasia. In: Lebwohl MG, Heymann WR, Berth-Jones J, Coulson IH, eds. Treatment of Skin Disease: Comprehensive Therapeutic Strategies. 5th ed. Philadelphia, PA: Elsevier; 2018:chap 102.

Kwah J, Brandt LJ. Vascular lesions of the gastrointestinal tract. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. 11th ed. Philadelphia, PA: Elsevier; 2021:chap 38.

McDonald J, Pyeritz RE. Hereditary hemorrhagic telangiectasia. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2021. www.ncbi.nlm.nih.gov/books/NBK1351/. Updated February 2, 2017. Accessed June 11, 2021.