6 Facts about hereditary hemorrhagic telangiectasia


1.    Hereditary hemorrhagic telangiectasia (HHT) is a genetic disease which affects the structure of blood capillaries. So the affected blood capillaries become fragile and cause bleeding.
2.    Hereditary hemorrhagic telangiectasia may affect any part of the body, but it's commonly seen in face, fingers, nose and lips.
3.    The most common clinical sign of hereditary hemorrhagic telangiectasia is epistaxis (nosebleeds). The patient may also develop other symptoms, such as:

  • Red spots over the affected areas of the body.
  • Mild to moderate internal hemorrhage, which is manifested with; hemoptysis, hematemesis or melena. 
  • Anemia, which is manifested with; pallor, blurred vision, dizziness, headache, fatigue, palpitation and dyspnea.

4.    In advanced cases, serious complications may occur, they include:

  • Heart failure.
  • Increased risk of seizures or stroke (if cerebral blood vessels are affected).
  • Back pain and numbness in extremities (if spine is affected).

5.    Hereditary hemorrhagic telangiectasia is initially suspected if the patient is manifested with recurrent epistaxis which is associated with one or more of the above clinical manifestations. For confirmation of diagnosis, genetic study is highly recommended.
6.    There is no definite treatment for hereditary hemorrhagic telangiectasia, but mild cases can be managed by surgical excision of the affected blood capillaries or embolization to stop bleeding. 

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