Osler-Weber-Rendu disease: causes, symptoms and diagnosis

What is Osler-Weber-Rendu syndrome?

Osler-Weber-Rendu syndrome (OWR) is also known as hereditary hemorrhagic telangiectasia (HHT). It is a genetic disorder of the blood vessels that often leads to excessive bleeding. According to the International HHT Foundation, the syndrome affects approximately one in 5,000 people. However, many people with the disease do not know they have it, so this number could be higher.

The name Osler-Weber-Rendu syndrome is named after the doctors who worked on the investigation of this condition in the 1890s. They discovered that problems with blood clotting do not cause this condition, which was previously assumed. Instead, this condition is caused by problems with the blood vessels themselves.

In a healthy circulatory system, there are three types of blood vessels. There are arteries, capillaries and veins. Blood that moves away from your heart is transported through the arteries, which travel at a high pressure. The blood that goes to your heart is transported through the veins and travels at a lower pressure. Capillaries are found between these two types of blood vessels, and the narrow passage of the capillaries helps to decrease the pressure of the blood before it reaches the veins.

People with OWR lack capillaries in some of their blood vessels. These abnormal blood vessels are known as arteriovenous malformations (AVM).

Because there is nothing to decrease the blood pressure before it flows into the veins, people with OWR often experience tense veins that may break over time. When large AVMs occur, bleeding may occur. Hemorrhages in these areas can be life-threatening:

  • brain

  • lungs

  • the liver

  • the gastrointestinal tract

People with OWR also have abnormal blood vessels called "telangiectasias" near the skin and mucosal surfaces. These blood vessels are dilated or widened and are often visible as small red dots on the surface of the skin.

What are the symptoms of Osler-Weber-Rendu syndrome?

The symptoms and signs of OWR and its severity vary widely, including among family members.

A common sign of OWR is a large red birthmark, sometimes called port wine stain. A port wine stain is caused by a collection of dilated blood vessels, and may become darker in color as the person ages.

Telangiectasias are another common symptom of OWR. They are often small red spots and are prone to bleed. Marks may appear in young children or not until after puberty. Telangiectases can appear in the:

  • face

  • lips

  • language

  • ears

  • fingertips

  • the white of the eyes

  • gastrointestinal system

AVM can occur anywhere within the body. The most common sites are:

  • nose

  • lungs

  • the gastrointestinal tract

  • the liver

  • brain

  • the spine

The most common symptom of OWR is nosebleed caused by telangiectasias in the nose. In fact, this is often the earliest OWR symptom. Nosebleeds can occur daily or as rarely as twice a year.

When AVM forms in the lungs, they can affect lung function. A person with a pulmonary AVM may have difficulty breathing. They can cough up blood. Severe complications of pulmonary AVMs also include cerebrovascular accidents and infections in the brain. People with OWR can develop these complications because without the capillaries, blood clots and infections can travel directly from the rest of the body to the brain without a buffer.

A person with a gastrointestinal AVM may be prone to digestive problems, such as bloody stools. These are not usually painful. However, a loss of blood often leads to anemia. Gastrointestinal MVA can occur in the stomach, intestines or esophagus.

AVMs can be particularly dangerous when they occur in the brain. When one bleeds, it can cause seizures and minor strokes.

What causes Osler-Weber-Rendu syndrome?

People with OWR inherit an abnormal gene that causes their blood vessels to form incorrectly. OWR is an autosomal dominant disorder. This means that only one parent needs to have the abnormal gene to transmit it to their children. OWR does not skip a generation. However, the signs and symptoms can vary a lot between family members. If you have OWR, your child may have a lighter or more severe course than you.

In very rare cases, a child can be born with OWR even when neither parent has the syndrome. This happens when one of the genes that cause OWR mutates in an egg or sperm.

Diagnosis of Osler-Weber-Rendu syndrome

The presence of telangiectasias is an indication of OWR. Other clues that could lead to a diagnosis include:

  • frequent nosebleeds

  • anemia

  • stool with blood

  • have a father with the syndrome

If you have OWR, your doctor may want to perform additional tests. For example:

  • A blood test can detect anemia or iron deficiency in the blood.

  • A CT scan can show internal MVA, such as in the lungs, liver, and brain.

  • A gastrointestinal doctor can insert a small camera into your throat to check for AVM in your esophagus. This is called endoscopy.

  • An echocardiogram uses sound waves to control the flow of blood in and out of your heart.

If you have OWR, an AVM screening test must be done on the lungs and brain. This can help your doctor detect a potentially dangerous problem before something goes wrong. An MRI can detect problems in the brain. CT scans can detect lung AVM.

Your doctor can monitor the ongoing symptoms of this syndrome through regular check-ups.

Genetic tests are usually not necessary to diagnose OWR. These tests are expensive and may not be available in all circumstances. People with a family history of OWR who are interested in genetic testing should discuss their options with a genetic counselor.

Treatment of Osler-Weber-Rendu syndrome

The various symptoms of OWR each require their own types of treatment.


Nosebleeds are one of the most common manifestations of OWR. Fortunately, there are several types of treatments that can help. Non-invasive treatments include:

  • Use a humidifier to keep humid air in your home or workplace.

  • Keep the inside of the nose lubricated with ointment.

  • Take estrogen to potentially decrease bleeding episodes.

If non-invasive remedies fail, there are other options. Laser therapy heats and seals the edges of each telangiectasia. However, you may need to have repeated sessions for lasting relief of symptoms. Septal dermoplasty is also an option for people with severe nosebleeds. The goal of this procedure is to replace the mucous membrane, or thin lining of the nose, with a skin graft that provides a thicker lining. This reduces nosebleeds.

Internal AVM

More serious surgery may be required for AVMs in the lungs or brain. The objective is to take preventive measures before there are problems. Embolization is a surgical process that treats pulmonary AVMs by stopping the flow of blood to these abnormal blood vessels. It can be done in a few hours as outpatient surgery. This procedure involves the insertion of a material, such as a metal coil, a plug or glue, into the AVM to block it. Surgery is necessary for brain AVMs and depends on their size and location.

Embolization is much more complicated to perform in the liver. It can cause serious complications. Therefore, the treatment for hepatic AVMs is oriented towards the improvement of symptoms. If the medical administration fails, a person with OWR requires a liver transplant.


If intestinal bleeding causes anemia, your doctor will recommend iron replacement therapy. This will be in the form of a pill unless you are not absorbing enough iron. In that case, you may need to take iron intravenously. In severe cases, your doctor may order a hormone treatment or a blood transfusion.

Symptoms of the skin

Dermatologists can treat port wine brands with laser therapy if they bleed a lot or do not like their appearance.

Other complications of ORW syndrome

When bacteria from the mouth enter the bloodstream and pass through a lung AVM, they can cause a brain abscess. An abscess is a collection of infected material that contains immune cells and pus. This occurs more frequently during dental procedures. If you have AVM of lung or have not yet been examined, talk to your doctor about taking antibiotics before continuing with any dental work.

Perspective of the Osler-Weber-Rendu syndrome

Most people with OWR lead perfectly normal lives. The syndrome only endangers life when an internal AVM begins to bleed uncontrollably. Visit your doctor regularly, so they can control any internal AVM.

Reference: https: //www.healthline.com/health/osler-weber-rendu-syndrome


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