Sindrome di Osler-Weber-Rendu

What is Osler-Weber-Rendu syndrome?

People with Osler-Weber-Rendu syndrome can develop abnormal blood vessels in several areas of the body. These vessels are called arteriovenous malformations. The abnormal blood vessels in the skin are called telangiectasias. There are also abnormal connections between arteries and capillaries (called arteriovenous malformations, or AVMs). These AVMs particularly occur in the lungs, liver and brain.

Osler-Weber-Rendu syndrome is inherited, which means it is passed down through families. Scientists have identified four genes involved in this condition. All these genes appear to be important for blood vessels to develop properly.

Osler-Weber-Rendu syndrome is uncommon and occurs in about 1 in 6,000 people.

The symptoms will depend on the location of the abnormal blood vessels. The first symptom is often recurrent nosebleeds as a teenager. Abnormal blood vessels (telangiectasias) in the skin are often not seen until 20-30 years of age. Abnormal blood vessels also often occur on the lips, tongue and the lining of the nose. They may also occur on the white surface of the eye (conjunctiva), lining of the gut (gastrointestinal tract), lungs, brain and liver.

Therefore, the symptoms may include:

• Abnormal blood vessels on the skin, lips and white surface of your eyes.

• Bringing up (vomiting) blood or passing very dark stools (faeces) - bleeding from your gut.

• Headaches, fits (seizures) and bleeding into the brain (stroke).

• Coughing up blood - bleeding into the lungs (which is called haemoptysis).

• Tiredness, weakness and feeling faint (symptoms of anaemia caused by bleeding inside your body).

Abnormal blood vessels in the liver may cause increased blood flow in the liver. This may cause insufficienza cardiaca with shortness of breath.

Tests to diagnose Osler-Weber-Rendu syndrome include blood tests, scans of your heart (called an ecocardiogramma), using an endoscope to look at both ends of your gut (bowel), Scansioni TC e risonanza magnetica. Test genetici is used to look for changes in the genes associated with Osler-Weber-Rendu syndrome. Genetic testing can also be used to see if anyone else in your family also has an abnormal gene (mutation).

Severe bleeding may need a blood transfusion. Surgery, local intense heat treatment (electrocautery) or laser treatment may also be needed for areas of bleeding.

Arteriovenous malformations (AVMs) can be treated by injecting a substance into the blood vessel (embolisation) to block the abnormal blood vessel.

Female hormones (oestrogens) have been shown to be effective. The pillola contraccettiva orale combinata (containing oestrogen and progestogen) is often used for women who have Osler-Weber-Rendu syndrome.

The complications of Osler-Weber-Rendu Syndrome may include severe bleeding (haemorrhage), insufficienza cardiaca and high blood pressure in the lungs (pulmonary hypertension). Severe liver disease (cirrosi epatica) may occur in a small number of those with this condition.

There is usually no effect on lifespan. However, severe internal bleeding or severe liver disease (liver cirrhosis) may cause early death.