From the Guidelines
Hereditary Hemorrhagic Telangiectasia (HHT) is another name for Osler-Weber-Rendu disease. This condition is a rare genetic disorder that affects blood vessels throughout the body, causing them to develop abnormally with direct connections between arteries and veins called arteriovenous malformations 1. These malformations can appear as small red to violet spots on the skin and mucous membranes, which are prone to bleeding. HHT is an autosomal dominant condition, meaning a person only needs to inherit one copy of the mutated gene from a parent to develop the disease. The condition typically involves mutations in genes like ENG, ACVRL1, or SMAD4, which are important for proper blood vessel formation. Patients with HHT often experience recurrent nosebleeds, gastrointestinal bleeding, and may have malformations in organs like the lungs, liver, and brain that can lead to serious complications if left untreated.
Some key points to consider in the management of HHT include:
- The disease can cause significant morbidity and mortality if left untreated, with complications such as paradoxical stroke, brain abscesses, hypoxemia, and cardiac failure 1.
- Radiology plays an important role in the diagnosis and treatment of HHT, particularly in the detection and management of pulmonary arteriovenous malformations (PAVMs) 1.
- The American College of Radiology Appropriateness Criteria provide evidence-based guidelines for the management of PAVMs in patients with HHT 1.
- Genetic testing has become an important tool in the diagnosis and management of HHT, allowing for early identification and treatment of affected individuals 1.
Overall, HHT is a serious genetic disorder that requires prompt diagnosis and treatment to prevent significant morbidity and mortality. Early recognition and management of the condition can significantly improve quality of life for affected individuals 1.
From the Research
Another Name for Osler-Weber-Rendu Disease
- Hereditary hemorrhagic telangiectasia (HHT) is also known as Osler-Weber-Rendu syndrome 2, 3, 4, 5, 6
- It is an autosomal dominant disorder that causes abnormal blood vessel formation
- The disease is characterized by the development of arteriovenous malformations (AVMs) in the skin, mucous membranes, and/or internal organs
- Other names for the disease include Rendu-Osler-Weber disease 4, 5, 6
- The disease is often referred to by the eponym Osler-Weber-Rendu syndrome 2, 3
Key Features of the Disease
- Telangiectasias and arteriovenous malformations in various organs
- Recurrent bleeding, anemia, iron deficiency, and high-output heart failure
- Genetic mutations, including ENG, ACVRL1/ALK1, and MADH4/SMAD4, among others
- Diagnosis is clinical, based on the Curaçao criteria
- Treatment is best delivered via a multidisciplinary approach with appropriate diagnosis, screening, and local and/or systemic management of lesions 2, 3