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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 of HHT include:
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.
The major risk factor for hereditary hemorrhagic telangiectasia is having a parent with the condition.
Your healthcare professional may diagnose HHT based on a physical exam, results of imaging tests and a family history. But some symptoms may not show up in children or young adults. Having genetic testing for HHT may confirm the diagnosis.
In HHT, atypical links called arteriovenous malformations, also called AVMs, happen between arteries and veins. HHT AVMs can be present in internal organs such as the lungs, brain and liver. One or more of the following imaging tests can help find AVMs:
If you or your child has HHT, if you can, seek treatment at an HHT Center of Excellence. HHT is a rare condition that is best managed at centers that treat all aspects of this condition at every age. So it can be hard to find a specialist to treat it.
In the United States, Cure HHT names HHT Centers of Excellence for being able to diagnose and treat all aspects of the condition. Mayo Clinic is an HHT Center of Excellence and cares for many people and their family members diagnosed with HHT.
Medicines that help stop the bleeding linked with HHT can be divided into three broad groups:
If you get iron deficiency anemia, you might get an iron replacement through a vein. This most often works better than taking iron pills.
Serious nosebleeds are one of the most common signs of HHT. These sometimes happen daily. They can cause so much blood loss that you become anemic. You might need to receive blood, called a transfusion, and iron through an arm vein.
Procedures to lower the number of nosebleeds and lessen how bad they are may include:
HHT most often affects the lungs, brain and liver. Procedures to treat AVMs in these organs may include:
To help prevent HHT nosebleeds, you may want to:
Here's some information to help you get ready for your appointment.
When you make the appointment, ask if there's anything you need to do before you arrive, such as fasting before having a certain test. Make a list of:
Take a family member or friend along, if possible, to help you remember what your healthcare team tells you.
Some basic questions to ask include:
Be sure to ask all the questions you have.
Your healthcare professional is likely to ask you questions, such as: