Hereditary hemorrhagic telangiectasia

Overview

Hereditary hemorrhagic telangiectasia (tuh-lan-jee-uk-TAY-zhuh) is a condition that's passed through families, called inherited. It causes atypical links between arteries and veins called arteriovenous malformations (AVMs). The most common sites AVMs affect are the skin, nose, digestive system, lungs, brain and liver.

AVMs may get larger over time. They can bleed or burst. This can result in serious complications, including death.

Nosebleeds that happen for no known reason are the most common symptom. Nosebleeds can happen every day. Ongoing bleeding from the nose and the intestinal tract can result in serious iron deficiency anemia and poor quality of life.

Also called Osler-Weber-Rendu disease and HHT, hereditary hemorrhagic telangiectasia passes from parents to children. How bad it is can vary greatly from person to person, even within the same family.

If you have HHT and have children, you may want to have them checked for the condition. HHT can affect them even if they don't have symptoms.

Symptoms

Symptoms of HHT include:

• Nosebleeds. These can happen every day. They often start in childhood.
• Lacy red vessels or tiny red spots, mostly on the lips, face, fingertips, tongue and inside the mouth. These are called telangiectasias.
• Iron deficiency anemia due to bleeding from the nose or intestinal tract.
• Shortness of breath.
• Headaches.
• Seizures.
• Pus-filled swelling in the brain, called a brain abscess, and strokes.
• Infection in a bone, called osteomyelitis.

Causes

HHT is a condition of gene changes, called genetic, that you get from your parents. It is an autosomal dominant disorder. That means if one of your parents has HHT, you have a 50% chance of getting it. If you have HHT, each of your children has a 50% chance of getting it from you.

Risk factors

The major risk factor for hereditary hemorrhagic telangiectasia is having a parent with the condition.

Living with hereditary hemorrhagic telangiectasia?

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