Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
In medicine, hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome,[1] is an autosomal dominant genetic disorder that leads to vascular malformations.
HHT is characterised 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, nose, lips, mouth/throat and conjunctiva.
The internal organs that can harbor AVMs often include the brain and lungs. In both, bleeding can seriously endanger life. Anemia may occur due to bleeding from digestive tract AVMs. Congestive cardiac failure (high-output heart failure) may develop in the presence of marked shunting arterial blood to the venous circulation, e.g. when AVMs are present in the liver.
There are four diagnostic criteria.[2] If three or four are met, a patient has definite HHT, while two gives a possible diagnosis:
When HHT is suspected, physical examination focuses on inspecting the whole skin for teleangiectasias, auscultation of the lungs and liver, and neurological examination.
Pulmonary AVMs can be anticipated by measuring oxygen levels and performing arterial blood gas (ABG) sampling. An X-ray of the chest can show susceptible lesions; in addition, low oxygen tension (<96% or a 2% decrease upon standing) or low blood oxygen levels on ABG are required for a diagnosis. HHT is a genetic disorder by definition. It is inherited in an autosomal dominant manner. [tubepress mode=’tag’, tagValue=’Hereditary hemorrhagic telangiectasia’]