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Hereditary Hemorrhagic Telangiectasia

Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels. vBlood vessels under the skin may break and bleed, causing small, red-to-violet discolorations, especially on the face, lips, lining of the mouth and nose, and tips of the fingers and toes. Severe nosebleeds may also occur.

Small blood vessels in the digestive and urinary tracts, as well as in the brain and spinal cord, may also be affected, causing bleeding in these sites. In the circulatory system, blood carrying oxygen from the lungs is normally pumped by the heart into the arteries at high pressure. The pressure allows the blood to make its way through the arteries to the smaller vessels (arterioles and capillaries) that supply oxygen to the body's tissues. By the time blood reaches the capillaries, the pressure is much lower. The blood then proceeds from the capillaries into veins, through which it eventually returns to the heart.

Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs). AVMs often include the brain and lungs.Large AVMs often cause symptoms when they occur in the brain, lungs, or gastrointestinal tract; complications from bleeding or shunting may be sudden and catastrophic. Small AVMs (or telangiectases) close to the surface of skin and to mucous membranes often rupture and bleed after slight trauma.

The most common clinical manifestation is spontaneous and recurrent nosebleeding beginning at approximately 12 years of age. About 25% of individuals with HHT have GI bleeding, which most commonly begins after age 40 years. 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.

Causes of Hereditary Hemorrhagic Telangiectasia

Common causes of Hereditary Hemorrhagic Telangiectasia

  • Abnormalities in the blood vessels.
  • Body organs.
  • Gastrointestinal Tract.
  • Arteriovenous Malformations.
  • Leukemia.
  • Lymphoma.
  • Heavy alcohol consumption.

Symptoms of Hereditary Hemorrhagic Telangiectasia

Common Symptoms of Hereditary Hemorrhagic Telangiectasia

  • Bleeding.
  • Migraine.
  • Headaches.
  • Weakness.
  • Nosebleeds.
  • Anemia.
  • Heart failure.
  • Kidney damage.
  • Abdominal pain.
  • Confusion.
  • Seizures.
  • Coma.

Treatment of Hereditary Hemorrhagic Telangiectasia

Common Treatment of Hereditary Hemorrhagic Telangiectasia

  • AVMs often necessitates repeated blood transfusions.
  • AVMs in critical organs often necessitates surgery.
  • Use to antibodies( prednisone, Danazol, cyclophosphamide, azathioprine).




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