More recently, three-dimensional (3D) sonography has provided a sensitive and noninvasive method for examining the hepatic vasculature for disease and for confirming hepatic vascular malformations. We describe a patient with Osler-Weber-Rendu disease in whom 3D sonograms reconstructed from power Doppler sonography were useful in establishing the diagnosis.
Osler-Rendu-Weber disease has multiple manifestations. Increased hepatic blood flow through the arteriovenous or portovenous fistulas in the liver may cause hepatomegaly, with the patient presenting with right upper quadrant pain. Left-to-right shunting through the hepatic vascular fistulas may lead to high-output cardiac failure. Rarely, hepatic arterioportal shunting may lead to portal hypertension, with the patient presenting with gastrointestinal variceal rupture or hepatic encephalopathy.
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Some patients respond to estrogen therapy, which can reduce bleeding episodes. Avoid taking blood-thinning medications.
Some patients may need to take antibiotics before having dental work or surgery. Ask your doctor what precautions you should take.
OWRD is most common in white individuals but has been observed in blacks and individuals of Asian and Arabic descent. Males and females are equally affected. The syndrome most often presents itself between the ages of 30 and 40, but may be clinically silent. Recurrent epistaxis (nosebleed), which often develops prior to the 20s, is the most common manifestation (Silver).
Some cases are so mild that they may never be diagnosed; about 20% of cases occur in individuals with no known family history. Symptoms of the disorder often first appear in childhood as recurrent nosebleeds due to ruptures in the mucous membranes that result in bleeding.
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