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Congenital hemorrhagic telangiectasia (Rundu-Osler-Weber Syndrome)
Last reviewed: 17.10.2021
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[Symptoms of congenital hemorrhagic telangiectasia (Rundu-Osler-Weber Syndrome)
The most characteristic lesions are small red-violet telangiectasias on the face, lips, nose and mouth mucous membranes, fingertips and toes. Similar lesions may be present on the gastrointestinal mucosa, leading to recurrent bleeding. Patients have frequent profuse nasal bleeding. Some patients have pulmonary arteriovenous fistulas. These fistulas lead to pronounced right-left shunting, which can cause shortness of breath, weakness, cyanosis and polycythemia. However, the first signs are brain abscesses, transient ischemic attacks or stroke as a result of an infected or uninfected embolism. In some families, there are cerebral or spinal telangiectasias that can cause subarachnoid hemorrhages, epileptic seizures or paraplegia.
The diagnosis is based on the detection of characteristic arteriovenous anomalies on the face, mouth, nose and gums. Sometimes it is necessary to perform endoscopy or angiography. In the presence of a family history of pulmonary or cerebral disorders, CT scans of the lungs and MRI of the head during puberty or at the end of adolescence are recommended. Laboratory studies usually show no abnormalities, with the exception of iron deficiency in most patients.
Treatment of congenital hemorrhagic telangiectasia (Randu-Osler-Weber Syndrome)
Treatment for most patients is only supportive, but available telangiectasias (for example, in the nose or GI tract at endoscopy) can be eliminated by laser ablation. With arteriovenous fistulas surgical resection or embolization can be used. In connection with the need for repeated blood transfusions, immunization with hepatitis B vaccine is important. In order to replace the losses from repeated mucosal bleeding, many patients need long-term therapy with iron preparations. Some patients need the injection of parenteral iron preparations. Fibrinolysis inhibiting drugs, such as aminocaproic acid, may be effective.