Hereditary Hemorrhagic Telangiectasia
Hereditary hemorrhagic telangiectasia is a hereditary disorder in which blood vessels are malformed, making them fragile and prone to bleeding.
Dilated blood vessels (telangiectasia) are present on the skin and the lining of the mouth, nose, and digestive tract.
When blood vessels break, people develop active bleeding from these vessels, especially those within the nose.
Usually the appearance of the dilated blood vessels on the lips and tongue give doctors enough information to make a diagnosis.
Doctors stop the episode of bleeding and may give iron supplements or blood transfusions if the person has anemia.
Blood 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, liver, lungs, and spinal cord, may also be affected, causing bleeding in these sites. If bleeding episodes occur frequently, people may develop a low blood count (anemia).
Some people have abnormal connections between an artery and a vein (arteriovenous fistula). Arteriovenous fistulas that develop in the brain or spinal cord may cause seizures or paralysis and those that occur in the liver may cause liver failure or heart failure. If this artificial connection is in a lung, blood passes through the lungs without receiving enough oxygen. The person may be short of breath, feel tired, or have skin that appears bluish. An arteriovenous fistula in the lung also may allow small clots to go to the brain, resulting in a stroke or transient ischemic attack.
Doctors usually make the diagnosis after an examination reveals the typical dilated blood vessels on the face, around the mouth, and on the fingers and toes. Sometimes doctors need imaging tests to examine the brain, lungs, liver, or intestine for the presence of abnormal blood vessels. If the diagnosis still is not clear, genetic testing is available and reveals mutations in 80% of people.
Doctors often do blood tests to look for anemia once they suspect the diagnosis.
At puberty and at the end of adolescence, doctors screen people with family members who have arteriovenous fistulas. Screening usually consists of imaging of the lungs, liver, and brain.
Treatment is aimed at stopping an occurrence of bleeding. Treatment may involve applying pressure, using a topical drug that narrows blood vessels (astringent), or using a laser beam to destroy the leaking blood vessel. Severe bleeding may require more invasive techniques, including surgery.
Bleeding almost always recurs, resulting in iron deficiency anemia. People with hereditary hemorrhagic telangiectasia often need to take iron supplements. People may also need repeated blood transfusions. Some people may also need to take drugs (such as epsilon aminocaproic acid) that inhibit the breakdown of blood clots (to help minimize bleeding).