Hereditary hemorrhagic telangiectasia; HHT
People with Osler-Weber-Rendu syndrome 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 abnormal blood vessels can also develop in the brain, lungs, liver, intestines, or other areas.
Sym,ptoms of this syndrome include:
nosebleedsin children GI bleeding, including loss of blood in the stool or dark black stools Port wine stain Seizuresor unexplained, small strokes(from bleeding into the brain)
- Shortness of breath
Signs and tests
An experienced health care provider can detect telangiectases during a physical examination. There is often a family history of hereditary hemorrhagic
- Abnormal blood vessels that bleed easily in the throat, bowels, or airways
- AVM seen on
- Decreased oxygen levels in the blood
Heart failure Hepatomegaly Iron deficiency anemia
Blood gas tests
- Blood tests
Genetic testing may be available to look for changes in genes associated with this syndrome.