Telangiectasia, Hereditary Hemorrhagic

Below you will find more information about Telangiectasia, Hereditary Hemorrhagic from Medigest. If you believe that you are suffering from any of the symptoms of Telangiectasia, Hereditary Hemorrhagic it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Telangiectasia, Hereditary Hemorrhagic and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Telangiectasia, Hereditary Hemorrhagic comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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-?1 is most likely to be involved.

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