Most people with this condition live a full, typical life, but it can be life threatening if a blood vessel ruptures in an internal organ and bleeds uncontrollably.
Osler-Weber-Rendu syndrome, which is also called hereditary hemorrhagic telangiectasia (HHT), is a rare genetic disorder that causes atypical blood vessels to form in your skin and mucous membranes, as well as in vital organs such as your lungs and brain.
It affects only about 1 in every 5,000 people in the world, but the actual number may be higher because some people have few or no symptoms and might not know they have the condition. It can affect people of all genders and ethnicities. Recurrent nosebleeds are often the first symptom.
Here we explain how Osler-Weber-Rendu syndrome can be life threatening and the overall outlook for living with it.
Osler-Weber-Rendu syndrome can be life threatening if a blood vessel ruptures in an internal organ and bleeds uncontrollably. However, death from this condition is more likely to occur if you don’t know you have it and are not receiving regular screenings and treatment.
When monitored and treated by a doctor, Osler-Weber-Rendu syndrome doesn’t affect life expectancy for most people.
Often, the first symptom of Osler-Weber-Rendu syndrome is a persistent nosebleed. Nosebleeds happen because small, fragile blood vessels (telangiectases) form in the membranes that line the inside of your nose. Though this requires treatment, it’s not likely to be life threatening.
Most other possible complications of this condition are also not life threatening, but they can vary in severity. They may include:
On the other hand, bleeding within your brain, lungs, and liver can be life threatening because it may happen suddenly.
If you have Osler-Weber-Rendu syndrome, some of your blood vessels lack capillaries. The capillaries help lower the pressure of your blood before it reaches your veins.
Without these capillaries, there’s nothing to lower the pressure of the blood before it enters your veins. As a result, your veins become strained and fragile and are prone to rupture (burst). These atypical veins are called arteriovenous malformations (AVMs).
Rupture of large AVMs can lead to extensive bleeding (hemorrhage), which can cause a stroke, a brain abscess, sepsis, or heart failure. Death can occur if a hemorrhage happens in any of the following areas:
- brain
- lungs
- liver
- gastrointestinal tract
Because Osler-Weber-Rendu syndrome is so rare and its presentation can vary widely from person to person, the mortality rate isn’t easy to estimate.
Without proper treatment, Osler-Weber-Rendu syndrome can reduce life expectancy because of the risk of severe bleeding from ruptured AVMs.
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Most people with Osler-Weber-Rendu syndrome will live a typical, healthy life with no change to their life expectancy.
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The HHT group had a life expectancy of 75.9 years, while the control group had a life expectancy of 79.3 years. While the life expectancy was higher in the control group, the difference wasn’t statistically significant to the researchers.
The outlook is less favorable in people who don’t receive screening and treatment. For this reason, current international HHT guidelines strongly recommend screening for AVMs in the lungs and brain.
Your doctor can monitor the ongoing symptoms of this condition through regular checkups. Brain and lung AVMs are treated with surgical procedures. If you have an AVM in your liver, you might need a liver transplant.
Osler-Weber-Rendu syndrome, which is also known as hereditary hemorrhagic telangiectasia (HHT), can be life threatening, but you’ll likely live a typical, full life if you follow your treatment plan and visit a doctor for regular screenings.