Osler-Weber-Rendu syndrome is an inherited disorder of the blood vessels that can cause excessive bleeding.
Hereditary hemorrhagic telangiectasia; HHT
Osler-Weber-Rendu syndrome is a condition passed down through families. It results from a problem in one of several genes. Scientists have identified some of the genes involved. They do not know exactly how the gene defects lead to problems seen in persons with this syndrome, but it involves proper development of blood vessels.
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.
Symptoms of this syndrome include:
- 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
Exams and Tests
An experienced health care provider can detect telangiectases during a physical examination. There is often a family history of hereditary hemorrhagic telangiectasia.
- 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
- Iron deficiency anemia
Genetic testing is available to look for changes in genes associated with this syndrome.
Treatments may include:
- Surgery to treat bleeding in some areas
- Electrocautery or laser surgery to treat frequent or heavy nosebleeds
- Endovascular embolization to treat abnormal blood vessels in the brain and other parts of the body
Some patients respond to estrogen therapy, which can reduce bleeding episodes. Avoid taking blood-thinning medications. Iron may also be given if there is a lot of blood loss leading to anemia. Some drugs that affect blood vessel development are being studied as possible future treatments.
Some patients may need to take antibiotics before having dental work or surgery. Ask your doctor what precautions you should take.
HHT Foundation International -- www.hht.org
People with this syndrome can live a completely normal lifespan, depending on the parts of the body where the AVMs are located.
- Heart failure
- High blood pressure in the lungs (pulmonary hypertension)
- Internal bleeding
- Shortness of breath
When to Contact a Medical Professional
Call your health care provider if you or your child has frequent nose bleeds or other signs of this disease.
Genetic counseling is recommended for couples who want to have children and who have a family history of hereditary hemorrhagic telangiectasia. Medical treatments can prevent certain types of strokes and heart failure.
McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med. 2011 Jul;13(7):607-16.
Last reviewed 5/7/2013 by Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.
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