MedlinePlus Medical Encyclopedia: Osler-Weber-Rendu syndrome

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Osler-Weber-Rendu syndrome

Contents of this page:
Illustrations Alternative names Definition Causes, incidence, and risk factors Symptoms Signs and tests	Treatment Support Groups Expectations (prognosis) Complications Calling your health care provider Prevention

Illustrations

Circulatory system

Alternative names Return to top

Hereditary hemorrhagic telangiectasia

Definition Return to top

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

Causes, incidence, and risk factors Return to top

Hereditary hemorrhagic telangiectasia, also known as HHT or Osler-Weber-Rendu syndrome, is inherited as an autosomal dominant trait. Affected children develop red or reddish-purple collections of abnormal blood vessels called telangiectases (spider-like, macular, or papular spots).

The telangiectases can be seen on the lips and tongue and the nasal mucosa. Other areas such as the face and ears may be involved and internal vascular abnormalities can occur in the brain, lungs, throat and larynx, gastrointestinal tract, liver, bladder, and vagina.

Frequent nosebleeds in children may be an early sign but the easily visible, characteristic vascular lesions (telangiectases) on the tongue and lips may not appear until puberty. The telangiectases bleed easily. Bleeding into the head (brain hemorrhage, stroke) may cause varied neurological symptoms such as seizures. If severe, this brain hemorrhage may be fatal.

Some patients only discover that they have this condition when they cough up blood and a chest X-ray shows an abnormality called an arterio-venous malformation. Some patients have enough large or multiple arterio-venous malformations in the lungs to cause shortness of breath.

Symptoms Return to top

frequent nosebleeds in a child
GI bleeding -- i.e., loss of blood in stool or dark black stool (melena)
shortness of breath
the appearance of vascular lesions (telangiectases) during late childhood or early adolescence on the:
- tongue
- lips
- whites of the eyes
- ears
- finger tips and nail beds
- skin
coughing up blood, passing blood in the stool or unusually dark stool
port wine stain (occasionally present)
unexplained or multiple small strokes

Signs and tests Return to top

An experienced physician can find telangiectases on physical examination. There is often a family history of hereditary hemorrhagic telangiectasia.

Other signs include:

Chest X-ray may show a "spot on the lung" (arteriovenous malformation)
Echocardiogram may show "high-output" heart failure
iron deficiency anemia may result from repeated blood loss
specialized blood gas tests may show decreased levels of oxygen in blood
endoscopy may show numerous abnormal blood vessels that bleed easily(arteriovenous malformations) lining the throat, bowels, or airways
hepatomegaly
genetic testing may be available for mutations in the endoglin or ALK1 genes

Treatment Return to top

Bleeding in vital areas must be corrected surgically. Frequent or heavy nosebleeds (epistaxis) may be treated with electrocautery or laser surgery. Large collections of abnormal blood vessels (arterio-venous malformations) in the lungs may be deliberately "clotted off" in a procedure called "coiling" which is performed by an Interventional Radiologist. Some patients respond to estrogen therapy, which can reduce bleeding episodes.

Support Groups Return to top

HHT Foundation International, Inc. www.hht.org; 800-448-6389

Expectations (prognosis) Return to top

Barring a fatal intracranial hemorrhage, this syndrome is compatible with a normal lifespan. Many patients do not know that they have this condition until a family member is diagnosed with it.

Complications Return to top

internal hemorrhaging
marked increased risk for nose bleeds
coughing up blood
increased risk for strokes and infections of the brain
heart failure
shortness of breath
high blood pressure in the lungs (pulmonary hypertension)

Calling your health care provider Return to top

Call your health care provider if your child has frequent nose bleeds or other signs of this disease.

Prevention Return to top

Genetic counseling is recommended for prospective parents with a family history of hereditary hemorrhagic telangiectasia. Some strokes and high output heart failure can be prevented by clotting off the abnormal blood vessels in the lung (see above).

Update Date: 8/6/2003

Updated by: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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