Osler-Weber-Rendu syndrome Health Article

Definition

Osler-Weber-Rendu syndrome is an inherited disorder of the blood vessels that can cause excessive bleeding.

Alternative Names

Hereditary hemorrhagic telangiectasia; HHT

Causes, incidence, and risk factors

Osler-Weber-Rendu syndrome is an inherited condition. It can affect males or females of any ethnic or racial group.

People with this condition can develop abnormal blood vessels called arteriovenous malformations (AVMs) in several areas of the body. If they are on the skin, they are called telangiectasias. The AVMs can also develop in other areas of the body, such as the brain, lungs, liver, or intestines.

The syndrome is genetic, which means it results from an abnormality in one of a few genes. Scientists have identified some of the genes involved. However, they do not know exactly how the gene defects lead to the abnormal blood vessels seen in persons with this syndrome.

Symptoms

• Frequent nosebleeds in children
• GI bleeding, including loss of blood in the stool or dark black stools
• Port wine stain
• Seizures or unexplained, small strokes (from bleeding into the brain)
• Shortness of breath
• Telangiectases on the tongue, lips, nasal mucosa, face, ears, fingertips, nails, whites of the eyes, and skin (they may bleed easily)

Signs and tests

An experienced health care provider can detect telangiectases during a physical examination. There is often a family history of hereditary hemorrhagic telangiectasia.

Signs include:

• Abnormal blood vessels that bleed easily in the throat, bowels, or airways
• AVM seen on chest x-ray
• Decreased oxygen levels in the blood
• Heart failure
• Hepatomegaly
• Iron deficiency anemia

Tests include:

• Blood gas tests
• Blood tests
• Echocardiogram
• Endoscopy

Genetic testing may be available for changes (mutations) in the endoglin or ALK1 genes.