Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding.
HHT; Osler-Weber-Rendu syndrome; Osler-Weber-Rendu disease; Rendu-Osler-Weber syndrome
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.
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:
Treatments may include:
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.
Marie Faughnan practices in Toronto, Canada. Faughnan is rated as an Elite expert by MediFind in the treatment of Hereditary Hemorrhagic Telangiectasia. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Hereditary Hemorrhagic Telangiectasia, Telangiectasia, Arteriovenous Malformation, Endoscopy, and Liver Transplant.
Sophie Girod-Dupuis practices in Bron, France. Girod-Dupuis is rated as an Elite expert by MediFind in the treatment of Hereditary Hemorrhagic Telangiectasia. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Hereditary Hemorrhagic Telangiectasia, Telangiectasia, Pulmonary Arteriovenous Malformation (PAVM), Liver Transplant, and Endoscopy.
Fabio Pagella practices in Pavia, Italy. Pagella is rated as an Elite expert by MediFind in the treatment of Hereditary Hemorrhagic Telangiectasia. He is also highly rated in 12 other conditions, according to our data. His top areas of expertise are Hereditary Hemorrhagic Telangiectasia, Telangiectasia, Angiodysplasia of the Colon, Enlarged Adenoids, and Endoscopy.
More information and support for people with HHT disorder and their families can be found at:
People with this syndrome can live a completely normal lifespan, depending on where in the body the AVMs are located.
These complications can occur:
Call your provider if you or your child has frequent nose bleeds or other signs of this disease.
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.
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
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,...
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.
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.