Hereditary hemorrhagic telangiectasia

Overview

Hereditary hemorrhagic telangiectasia (tuh-lan-jee-uk-TAY-zhuh) is an inherited disorder that causes abnormal connections, called arteriovenous malformations (AVMs), to develop between arteries and veins. The most common locations affected are the nose, lungs, brain and liver.

These AVMs may enlarge over time and can bleed or rupture, sometimes causing catastrophic complications.

Spontaneous and unprovoked nosebleeds, sometimes on a daily basis, are the most common feature. Persistent bleeding from the nose and the intestinal tract can result in severe iron deficiency anemia and poor quality of life.

Also known as Osler-Weber-Rendu disease, hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder that you inherit from your parents. Its severity can vary greatly from person to person, even within the same family.

If you have HHT, you may want to have your children checked for the disease because they can be affected even if they're not experiencing any symptoms.

Symptoms

Signs and symptoms of HHT include:

• Nosebleeds, sometimes on a daily basis and often starting in childhood
• Lacy red vessels or tiny red spots, particularly on the lips, face, fingertips, tongue and inside surfaces of the mouth
• Iron deficiency anemia
• Shortness of breath
• Headaches
• Seizures

Causes

HHT is a genetic disorder you inherit from your parents. It is an autosomal dominant disorder, which means that if one of your parents has HHT, you have a 50 percent chance of inheriting it. If you have HHT, each of your children has a 50 percent chance of inheriting it from you.

Living with hereditary hemorrhagic telangiectasia?

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