Definition:
In medicine, hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu syndrome, is an autosomal dominant genetic disorder that leads to vascular malformations.
Diagnosis:
When HHT is suspected, physical examination concentrates on inspecting the whole skin for teleangiectasias, auscultation of the lungs and liver, and neurological examination.
Treatment:
There is no known specific treatment for the condition. Anemia because of bleeding from digestive tract AVMs often necessitates repeated blood transfusions. AVMs in critical organs often requires surgery
Symptoms and Signs:
HHT is marked by telangiectasia (small vascular malformations) on the skin and mucosal linings, epistaxis (nosebleeds), and arteriovenous malformations (AVMs) in various internal organs. Skin and mucosa telangiectasias are most remarkable on the tongue, hands/fingers, lips, nose, mouth/throat and conjunctiva.
Causes:
The mechanism underlying the formation of vascular malformations is not wholly understood, but signalling of transforming growth factor-β1 is most likely to be involved.
