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What is Hereditary Hemorrhagic Telangiectasia?

HHT is Hereditary Hemorrhagic Telangiectasia. It is also known as Osler-Weber-Rendu syndrome. It is an autosomal dominant genetic disorder. The Curacao Diagnostic Criteria are used to characterize the likelihood that a particular patient has HHT. The 4 criteria are: 1. Spontaneous and recurrent nosebleeds (epistaxis). 2. Multiple cutaneous telangiectasias (tiny spider-like vessels seen on the lips, inside the mouth, or conjunctiva of the eyes). 3. Visceral arteriovenous malformations (AVMs) of the GI tract, lungs, brain, or liver. 4. 1st-degree relative with HHT. If a patient has 3 or all 4 of these criteria they have HHT. If a patient has 2, it is suspicious for HHT, and only 1 is unlikely. The pulmonary AVMs are often treated by embolization (primarily with metallic coils) by an interventional radiologist. This is often done to improve the patient's oxygen saturation.
You've been diagnosed with WHAT? Can you pronounce it? Where do they get these disease names? What do they mean? Dr. John Whyte explains in this Discovery Health video.

 

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