Osler-Weber-Rendu syndromeHereditary hemorrhagic telangiectasia; HHT
Osler-Weber-Rendu syndrome is a disorder of the blood vessels that can cause excessive bleeding.
Osler-Weber-Rendu syndrome is inherited, which means it is passed down through families. Scientists have identified 4 genes involved in this condition. All of these genes appear to be important for blood vessels to develop properly.
People with Osler-Weber-Rendu syndrome can develop abnormal blood vessels in several areas of the body. These vessels are called arteriovenous malformations (AVMs).
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
- Bleeding in the gastrointestinal tract (GI), including loss of blood in the stool, or dark or black stools
- Port wine stain (a type of birthmark)
- Seizures or unexplained, small strokes (from bleeding into the brain)
A seizure is the physical findings or changes in behavior that occur after an episode of abnormal electrical activity in the brain. The term "seizure...
- 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 this condition.
Telangiectasias are small, widened blood vessels on the skin. They are usually harmless, but may be associated with several diseases.
- 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
- Enlarged liver
- Iron deficiency anemia
- Blood gas tests
- Blood tests
- Imaging test of the heart called an echocardiogram
- Endoscopy, which uses a tiny camera attached to a thin tube to look inside your body
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 (heating tissue with electricity) or laser surgery to treat frequent or heavy nosebleeds
- Endovascular embolization (injecting a substance through a thin tube) to treat abnormal blood vessels in the brain and other parts of the body
Some people respond to estrogen therapy, which can reduce bleeding episodes. Iron may also be given if there is a lot of blood loss leading to anemia. Avoid taking blood-thinning medicines. Some drugs that affect blood vessel development are being studied as possible future treatments.
Some people may need to take antibiotics before having dental work or surgery. Ask your provider what precautions you should take.
Cure HHT -- www.curehht.org
People with this syndrome can live a completely normal lifespan, depending on where in the body the AVMs are located.
These complications can occur:
- Heart failure
- High blood pressure in the lungs (pulmonary hypertension)
- Internal bleeding
- Shortness of breath
When to Contact a Medical Professional
Call your 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. If you have this condition, medical treatments can prevent certain types of strokes and heart failure.
Ferri FF, Ferri H. Osler-Rendu-Weber syndrome. In: Ferri FF, ed. Ferri's Clinical Advisor 2015. 1st ed. Philadelphia, PA: Elsevier Mosby; 2014:section I.
McDonald J, Wooderchak-Donahue W, VanSant Webb C, Whitehead K, Stevenson DA, Bayrak-Toydemir P. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet. 2015;6(1):1-8.
Circulatory system - illustration
Blood used by the body is brought back to the heart and lungs by the veins of the body. Once the blood has gathered more oxygen from the lungs, it is pumped back out to the body through the arteries.
Review Date: 4/20/2015
Reviewed 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, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.