Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain.[1][2]
It may lead to nosebleeds, acute and chronic digestive tract bleeding, and various problems due to the involvement of other organs. Treatment focuses on reducing bleeding from blood vessel lesions, and sometimes surgery or other targeted interventions to remove arteriovenous malformations in organs. Chronic bleeding often requires iron supplements and sometimes blood transfusions. HHT is transmitted in an autosomal dominant fashion, and occurs in one in 5,000–8,000 people in North America.[1][2]
The disease carries the names of Sir William Osler, Henri Jules Louis Marie Rendu, and Frederick Parkes Weber, who described it in the late 19th and early 20th centuries.[3]
^ abCite error: The named reference Shovlin was invoked but never defined (see the help page).
^ abCite error: The named reference Dupuis was invoked but never defined (see the help page).
^Cite error: The named reference Fuchizaki was invoked but never defined (see the help page).
and 29 Related for: Hereditary hemorrhagic telangiectasia information
Hereditaryhemorrhagictelangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic...
complications including hemorrhage, and infection. They are most commonly associated with hereditaryhemorrhagictelangiectasia. AVMs are usually congenital...
the use of tranexamic acid in hemoptysis. In hereditary angioedema In hereditaryhemorrhagictelangiectasia: tranexamic acid has been shown to reduce frequency...
multiple endocrine neoplasia type I, pseudoxanthoma elasticum, hereditaryhemorrhagictelangiectasia and Ehlers-Danlos syndrome types II and IV. Specific genes...
process, such as trauma or erosion of an arterial aneurysm. Hereditaryhemorrhagictelangiectasia is a condition where there is direct connection between...
and early adulthood. Primary Raynaud's is thought to be at least partly hereditary, although specific genes have not yet been identified. Smoking increases...
serine/threonine kinases. Mutations in this gene are associated with hereditaryhemorrhagictelangiectasia (HHT) type 2, also known as Rendu-Osler-Weber syndrome 2...
pneumonic plague, and cystic fibrosis. Rarer causes include hereditaryhemorrhagictelangiectasia (HHT or Rendu-Osler-Weber syndrome), Goodpasture's syndrome...
International Guidelines for the Diagnosis and Management of HereditaryHemorrhagicTelangiectasia". Annals of Internal Medicine. 173 (12): 989–1001. doi:10...
low-grade fever may be present, particularly if there is associated pulmonary hemorrhage or infarction. As smaller pulmonary emboli tend to lodge in more peripheral...
for surgical repair of type A dissections is the prevention of acute hemorrhagic pericardial tamponade due to leakage of blood through the dissected layers...
abnormal, weak spot on a blood vessel wall. Aneurysms may be a result of a hereditary condition or an acquired disease. Aneurysms can also be a nidus (starting...
impairment of thinking, yawning, drowsiness, vascular rupture, and hemorrhagic stroke. Fullness disease was presumed to be due to an excessive amount...
Global Information