Overview
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome or Osler-Weber-Rendu disease, is a genetic vascular disorder characterized by abnormal blood vessel formation. In HHT, the small blood vessels (capillaries) that normally connect arteries and veins are malformed or absent, leading to direct connections between arteries and veins. These vascular malformations range from small telangiectases (tiny abnormal blood vessels near the surface of the skin and mucous membranes) to larger arteriovenous malformations (AVMs) in internal organs. The hallmark symptom is recurrent and spontaneous nosebleeds (epistaxis), which affect over 90% of patients and often begin in childhood or adolescence. Telangiectases typically appear on the lips, tongue, face, and fingertips. Internally, AVMs can develop in the lungs (pulmonary AVMs), liver (hepatic AVMs), brain, and gastrointestinal tract. Pulmonary AVMs can cause stroke, brain abscess, and hypoxemia due to right-to-left shunting. Gastrointestinal telangiectases may cause chronic bleeding leading to iron-deficiency anemia. Hepatic AVMs can result in high-output heart failure, portal hypertension, or biliary disease. Cerebral AVMs carry a risk of hemorrhagic stroke. HHT is caused by mutations in several genes involved in the TGF-beta signaling pathway, most commonly ENG (HHT type 1), ACVRL1 (HHT type 2), and less frequently SMAD4 (which is also associated with juvenile polyposis). Treatment is multidisciplinary and primarily focused on managing symptoms and preventing complications. This includes iron supplementation and blood transfusions for anemia, laser therapy or topical treatments for nosebleeds, embolization of pulmonary and cerebral AVMs, and bevacizumab (an anti-VEGF agent) for severe bleeding or hepatic AVMs. Screening protocols for organ AVMs are recommended for all diagnosed individuals. There is currently no cure, but systematic screening and management significantly improve outcomes and quality of life.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
10 eventsShanghai General Hospital, Shanghai Jiao Tong University School of Medicine — PHASE3
Terremoto Biosciences Inc. — PHASE1
Poitiers University Hospital
Hospices Civils de Lyon — NA
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Ruijin Hospital — PHASE2
baotai Liang — PHASE2
baotai Liang — PHASE2
Nanfang Hospital, Southern Medical University — PHASE3
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Hereditary hemorrhagic telangiectasia.
14 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Hereditary hemorrhagic telangiectasia.
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Common questions about Hereditary hemorrhagic telangiectasia
What is Hereditary hemorrhagic telangiectasia?
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome or Osler-Weber-Rendu disease, is a genetic vascular disorder characterized by abnormal blood vessel formation. In HHT, the small blood vessels (capillaries) that normally connect arteries and veins are malformed or absent, leading to direct connections between arteries and veins. These vascular malformations range from small telangiectases (tiny abnormal blood vessels near the surface of the skin and mucous membranes) to larger arteriovenous malformations (AVMs) in internal organs. The hallmark symptom is re
How is Hereditary hemorrhagic telangiectasia inherited?
Hereditary hemorrhagic telangiectasia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Hereditary hemorrhagic telangiectasia?
Yes — 14 recruiting clinical trials are currently listed for Hereditary hemorrhagic telangiectasia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Hereditary hemorrhagic telangiectasia?
25 specialists and care centers treating Hereditary hemorrhagic telangiectasia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.