Osler-Weber-Rendu syndrome radiology

What radiology tests might a doctor order for Osler-Weber-Rendu syndrome?

Osler-Weber-Rendu syndrome is an inherited condition that causesTrusted Source blood vessels to develop malformations and multiple telangiectasia. This can happen in the:

• mucous structures, such as the:
  • nose
  • lips
  • tongue
  • fingertips
  • buccal mucosa or the inner lining of the cheeks
• viscera, including organs like the:
  • gut
  • liver
  • lungs
  • brain

After a person has undergone genetic tests to diagnose this condition, healthcare professionals may order radiology tests to spot and evaluate any arteriovenous malformations that may cause health complications and potentially life threatening conditions, such as a brain hemorrhage.

These tests may includeTrusted Source:

• contrast echocardiography
• thoracic CT scan
• chest X-ray
• brain MRI scan
• angiography

Learn more about HHT.

What might radiology tests show?

Radiology tests can help spot any atypical blood vessel formations, especially in the main organs, such as the brain, liver, and lungs, and determine whether a person needs to undergo surgery or receive other types of medical treatment to prevent complications.

Brain

Imaging tests of the brain can show if a person has experienced a brain hemorrhage in the past and if they are likely to develop other ruptures in the near future.

This can help predict potential strokes and enable healthcare professionals to deliver appropriate treatment before any malformed blood vessels in the brain rupture.

Lungs

Radiology tests of the lungs can help detect the presence of fistulas between the pulmonary vein and artery and determine if a person is at risk of developing complications such as hypoxia, stroke, osteomyelitis, or a brain abscess.

These complications can occur due to a change in communication in the arteries and veins that results from fistulas. Blood movement is impaired and shunts from the right to the left side of the heart. It is diverted away from the capillaries, impairing gas exchange and preventing proper filtration.

Osteomyelitis or brain abscesses can occur when bacteria-laden blood clots get into arterial beds. However, these are less common than other complications, such as stroke.

Fistulas are atypical connections between an organ, intestine, or vessel and another organ, intestine, vessel, or the skin.

Liver

Imaging tests of the liver can help determine if a person with Osler-Weber-Rendu syndrome has a risk of developing heart failure or pulmonary hypertension due to any malformations of the blood vessels in this organ.

However, while liver vascular malformations are more common than lung and brain vascular malformations, they are also less likely to cause symptoms and health complications.

Next steps after radiology

After reviewing the results of the radiology tests, the healthcare professional will discussTrusted Source the findings and potential outlook of the condition with the individual. They will usually also recommend treatments, including surgery, and how often the individual should have check-ups and imaging tests to monitor the condition of their blood vessels.

Treatment for Osler-Weber syndrome

The treatment of Osler-Weber-Rendu syndrome depends onTrusted Source the symptoms and manifestations that occur in each individual. The primary focus is on limiting the bleeding from the nose and gastrointestinal tract to prevent excessive blood loss.

Doctors may prescribe iron supplementation and blood transfusions to treat anemia. They may also recommend nasal gels, air humidification, oral tranexamic acid, and saline spray to relieve nosebleeds. In some cases, they may advise to undergo laser ablation to reduce the risk of nosebleeds.

People who have severe gastrointestinal symptoms may need surgery to remove the portion of the gut that experiences bleeding if other treatments have not been successful.

Recently, healthcare professionals found that giving anti-vascular endothelial growth factor (anti-VEGF) agents may reduceTrusted Source the frequency of bleeding and the need for blood and iron transfusion. Examples of anti-VEGF drugs include:

• pazopanib
• thalidomide
• bevacizumab

However, these therapies may cause side effects, including:

• high blood pressure
• nerve pain (peripheral neuropathy)
• blood vessel obstruction (thromboembolism)

Outlook

About 50%Trusted Source of people with Osler-Weber-Rendu syndrome develop anemia over time due to severe and recurrent nosebleeds.

About one-third of people who develop anemia will need blood transfusions and iron infusions. As people age, they may also experience gastrointestinal bleeding.

In general, people with Osler-Weber-Rendu syndrome have a life expectancy similar to individuals without this condition. However, developing malformations in the blood vessels of the lungs or brain can be life threatening and requires treatment.

A 2020 studyTrusted Source found that the life expectancy of people with HHT who received appropriate treatment and attended regular screening appointments was 75.9 years. In comparison, people without HHT had a life expectancy of 79.3 years.

However, about 50% of people with Osler-Weber-Rendu syndrome will experience a disabling or life threatening complication due to arteriovenous malformations in the liver, lungs, or brain. These may include:

• stroke
• heart failure
• cerebral abscess

Summary

Radiology tests can help healthcare professionals detect the atypical blood vessel formations that can occur in people with Osler-Weber-Rendu syndrome.

The imaging tests can help determine whether a person requires immediate treatment to prevent health complications, such as stroke or brain hemorrhage.

The treatment of Osler-Weber-Rendu syndrome varies depending on a person’s manifestations. However, the main focus of treatment usually relies on reducing the frequency and severity of nose and gastrointestinal bleeding while managing and preventing anemia.